uniparental disomy (UPD)
References:
|
----------------------------------- |
0. Liehr et al., Unpublished data
Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
Supernumerary marker chromosome (1) of paternal origin and maternal
uniparental disomy 1 in a developmentally delayed child.
J Med Genet. 2001 Dec;38(12):885-888.
Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.
FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::)
chromosome associated with multiple anomalies and bilateral cataracts.
Am J Med Genet. 2001 Nov 22;104(2):157-164.
Srebniak M, Noomen P, dos Santos P, Halley D, van de Graaf R, Govaerts L,
Wouters C, Galjaard RJ, Van Opstal D.
An incomplete trisomy 3 rescue resulting in a marker chromosome and
UPD(3)--difficulties in interpretation.
Prenat Diagn. 2008 Oct;28(10):967-970.
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth
M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S,
Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U,
Von Eggeling F, Liehr T.
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation
and classification.
Hum Genet. 2003 Dec;114(1):51-67.
Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U,
von Eggeling F, Liehr T.
First patient with trisomy 21 accompanied by an additional der(4)(:p11 -->
q11:) plus partial uniparental disomy 4p15-16.
Am J Med Genet. 2003 Jan 1;116A(1):26-30.
James
RS, Temple IK, Dennis NR, Crolla JA.
A search for uniparental disomy in carriers of supernumerary marker chromosomes.
Eur J Hum Genet. 1995;3(1):21-26.
Temple
IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD,
Shield JP.
An imprinted gene(s) for diabetes?
Nat Genet. 1995 Feb;9(2):110-112.
Crolla
JA, Long F, Rivera H, Dennis NR.
FISH and molecular study of autosomal supernumerary marker chromosomes
excluding those derived from chromosomes 15 and 22: I. Results of 26 new
cases.
Am
J Med Genet. 1998 Feb 3;75(4):355-366.
Eggermann T, Krause-Plonka I, Wollmann HA, Zerres K, Dai G, Meyer E, Bartsch
O.
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy
with growth retardation and triangular face.
Clin Dysmorphol. 2006 Jan;15(1):9-12.
Combi R, Sala E, Villa N, Crosti F, Beccaria L, Cogliardi A, Tenchini ML,
Dalprà L.
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome
7 in a child with Silver-Russell syndrome.
Clin Dysmorphol. 2008 Jan;17(1):35-39.
Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N.
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with
Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene
from a 7p13-q11 region.
J Med Genet. 1999 Apr;36(4):326-329.
Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE,
Preece MA.
Silver-Russell syndrome and ring chromosome 7.
J Med Genet. 2000 May;37(5):380.
Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman
F, Blennow E.
Detailed characterization of 12 supernumerary ring chromosomes using
micro-FISH and search for uniparental disomy.
Am J Med Genet. 2001 Mar 15;99(3):223-233.
Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjold M.
Characterization of supernumerary ring marker chromosomes by fluorescence in
situ hybridization (FISH).
Am J Hum Genet. 1993 Aug;53(2):433-442.
Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E,
Gillberg C, Nordenskjold M.
Fifty probands with extra
structurally abnormal chromosomes characterized by fluorescence in situ
hybridization.
Am J Med Genet. 1995 Jan 2;55(1):85-94.
Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A.
Maternal uniparental isodisomy 10 and mosaicism for an additional marker
chromosome derived from the paternal chromosome 10 in a fetus.
Prenat Diagn. 2002 May;22(5):418-421. Erratum in: Prenat Diagn 2002
Nov;22(11):1056.
Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G,
Kotzot D, Liehr T.
Maternal uniparental disomy 12 in a healthy girl with a
47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.
J Med Genet. 2002 Jul;39(7):519-521.
Liehr T, Nietzel A,
Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
Centromere-specific multicolor-FISH
(cenM-FISH) followed by analysis for uniparental disomy - a useful tool in
prenatal diagnosis.
In: Early prenatal diagnosis, fetal cells and DNA in the mother - present
state and perpectives.
The Karolinum Press, Prag, 2002, pp
293-300, ISBN: 80-246-0397-7.
Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA,
Prott EC, Wieczorek D, Gillessen-Kaesbach G.
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]?
Detection of 10 new patients by methylation-specific PCR.
Am J Med Genet A.
2006 Aug 11;140A(19):2039-2049.
Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
A patient with
Prader-Willi syndrome and a supernumerary marker chromosome
r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
Am J Med Genet. 2004 Aug 30;129A(2):176-179.
Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni
G, Larizza L.
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi
patients.
Am J Med Genet. 1997 Jan 10;68(1):99-104.
Doco-Fenzy M, Crolla A, Azemar V, Motte J, Gruson N,
Ulrich E, Adnet JJ.
Supernumerary mar(15) without Prader Willi/ Angelman syndrome critical region
(PWASCR) euchromatin, maternal heterodisomy and Prader Willi phenotype.
Cytogenet Cell Genet. 1997, 56 (Abstractno. P12).
Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C,
Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi
syndrome in patients with an additional small inv dup(15) chromosome.
J Med Genet. 1993 Sep;30(9):756-760.
Bettio D, Giardino D, Rizzi N, Riva P, Volpi L, Barantani E,
Tagliaferri A, Larizza L.
Isochromosome 15q of
maternal origin in a Prader-Willi patient with pituitary adenoma.
Acta Genet Med Gemellol (Roma).
1996;45(1-2):213-216.
Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale
F, Larizza L.
FISH analysis in Prader-Willi and Angelman syndrome patients.
Am J Med Genet. 1995 Mar 27;56(2):224-228.
Cheng SD, Spinner NB, Zackai EH, Knoll JH.
Cytogenetic and molecular
characterization of inverted duplicated chromosomes 15 from 11 patients.
Am J Hum Genet.
1994 Oct;55(4):753-759.
Constantinou M, Kaluzewski B, Helszer Z, Zajac E, Nowacka J.
Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing
Replication Test (TRT) and methylation analysis.
J Appl Genet.
2003;44(2):209-218.
Liehr T, Brude E, Gillessen-Kaesbach
G, König R, Mrasek K, von Eggeling F, Starke H.
Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and
maternal UPD 15 - case report plus review of similar cases.
Europ J Med Gen. 2005; 48:175-181.
Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M,
Giliberto F, Frechtel G, Francipane L, Szijan I.
Supernumerary marker 15
chromosome in a patient with Prader-Willi syndrome.
Clin Genet. 2004 Mar;65(3):242-3.
Wang YM, Chuang L, Wang BT, Kuo PL.
Maternal uniparental disomy in a patient with Prader-Willi syndrome with an
additional small inv dup(15) chromosome.
J Formos Med Assoc. 2004;103(12):943-947.
Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N,
Croquette MF, Mattei MG.
Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic
and molecular studies, search for an imprinting effect.
Eur J Hum Genet. 1996;4(2):88-100.
Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A,
Hansmann I, Claussen U.
Maternal UPD 20 in a hyperactive child with severe growth retardation.
Eur J Hum Genet. 1999 Jul;7(5):533-540.
Bartels I, Schlueter G, Liehr T, Von Eggeling F, Starke H, Glaubitz R,
Burfeind P.
Supernumerary
small marker chromosome (SMC) and uniparental disomy 22 in a child with
confined placental mosaicism of trisomy 22: Trisomy rescue due to marker
chromosome formation.
Cytogenet Genome Res., 2003;101(2):103-105.
Heidemann S, Plendl H, Vater I, Gesk S, Exeler-Telker JR, Grote W, Siebert
R, Caliebe A.
Maternal uniparental disomy 15 in a fetus resulting from a balanced familial
translocation t(2;15)(p11;q11.2).
Prenat Diagn. 2010 Jan
8;30(2):183-185.
Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E,
Sedlacek Z.
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced
chromosomal translocation.
Neuro Endocrinol Lett. 2006
Oct;27(5):579-85.
Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG.
Comprehensive 4-year follow-up on a case of maternal heterodisomy for
chromosome 16.
Am J Med Genet. 1996 Dec
11;66(2):204-8.
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu WT, Oeztas S,
Pepkowitz S, Graham JM Jr.
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.
Prenat Diagn. 1994
Apr;14(4):257-66.
Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T.
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically
normal female with two isochromosomes, i(2p) and i(2q).
J Med Genet. 2001 Mar;38(3):214.
Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T,
Solanellas J, Moreno F.
Uniparental disomy of chromosome 13q causing homozygosity for the 35delG
mutation in the gene encoding connexin26 (GJB2) results in prelingual
hearing impairment in two unrelated Spanish patients.
J Med Genet. 2003
Aug;40(8):636-9.
Shaffer LG, McCaskill C, Egli CA, Baker JC, Johnston KM.
Is there an abnormal phenotype associated with maternal isodisomy for
chromosome 2 in the presence of two isochromosomes?
Am J Hum Genet. 1997
Aug;61(2):461-2.
Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P,
Bennetts B, Edwards M.
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a
supernumerary marker chromosome 14.
Am J Med Genet A.
2007 Aug 13;143A(18):2165-2171.
Roberts S, Maggouta F, Thompson R, Price S, Thomas S.
A patient with a supernumerary marker chromosome (15), Angelman syndrome, and
uniparental disomy resulting from paternal meiosis II non-disjunction.
J Med Genet. 2002 Feb;39(2):E9.
Thompson RJ, Bolton PF.
Case report: Angelman syndrome in an individual with a small SMC(15) and
paternal uniparental disomy: a case report with reference to the assessment of
cognitive functioning and autistic symptomatology.
J Autism Dev Disord. 2003 Apr;33(2):171-176.
Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson
W, Hayden M.
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase
deficiency.
Am J Hum Genet. 1996
Aug;59(2):431-6.
Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ.
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis
of a patient with pycnodysostosis.
Am J Hum Genet. 1998 Apr;62(4):848-54.
Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, Uitto J.
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a
novel mechanism for Herlitz junctional epidermolysis bullosa.
J Invest Dermatol. 2000 Aug;115(2):307-11.
Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S,
Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y.
Complete paternal uniparental isodisomy for chromosome 1 revealed by
mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine
kinase for nerve growth factor in a patient with congenital insensitivity to
pain with anhidrosis.
Hum Genet. 2000 Sep;107(3):205-9.
Rivolta C, Berson EL, Dryja TP.
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in
a patient with retinitis pigmentosa without hearing loss and a missense
mutation in the Usher syndrome type II gene USH2A.
Arch Ophthalmol. 2002 Nov;120(11):1566-71.
Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath
D, Jacobson SG, Gal A.
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome
2, with homoallelism for mutations in RPE65 or MERTK, respectively.
Am J Hum Genet. 2002 Jan;70(1):224-9.
Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE,
McGrath JA.
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz
junctional epidermolysis bullosa.
Clin Exp Dermatol. 2005 Jan;30(1):71-4.
Chen H, Young R, Mu X, Nandi K, Miao S, Prouty L, Ursin S, Gonzalez J,
Yanamandra K.
Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short
stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.
Am J Med Genet. 1999 Jan 29;82(3):215-8.
Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M,
Roos JL, Gogos JA, Karayiorgou M.
Genomewide scan in families with schizophrenia from the founder population
of Afrikaners reveals evidence for linkage and uniparental disomy on
chromosome 1.
Am J Hum Genet. 2004 Mar;74(3):403-17.
Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.
Fumarase deficiency caused by homozygous P131R mutation and paternal partial
isodisomy of chromosome 1.
Am J Med Genet A. 2006 May 1;140(9):1004-9.
Fingert JH, Eliason DA, Phillips NC, Lotery AJ, Sheffield VC, Stone EM.
Case of Stargardt disease caused by uniparental isodisomy.
Arch Ophthalmol. 2006 May;124(5):744-5.
Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R,
Sidransky E.
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth
and Gaucher disease Type 3.
Neurology. 2008 Mar 18;70(12):976-8.
Al-Jasmi F, Abdelhaleem M, Stockley T, Lee KS, Clarke JT.
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a
patient with familial hemophagocytic lymphohistiocytosis.
J Pediatr Hematol Oncol. 2008
Aug;30(8):621-4.
Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr.
Maternal uniparental disomy for human chromosome 14, due to loss of a
chromosome 14 from somatic cells with t(13;14) trisomy 14.
Am J Hum Genet. 1993
Jun;52(6):1145-52.
Balmer D, Baumer A, Röthlisberger B, Schinzel A.
Severe intra-uterine growth retardation in a patient with maternal
uniparental disomy 22 and a 22-trisomic placenta.
Prenat Diagn. 1999
Nov;19(11):1061-4.
Bán Z, Nagy B, Papp C, Beke A, Tóth-Pál E, Papp Z.
Recurrent trisomy 21 and uniparental disomy 21 in a family.
Fetal Diagn Ther. 2003
Nov-Dec;18(6):454-8.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C,
Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet
CD, Craigen WJ, Antonarakis SE.
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one
form of situs inversus totalis and most likely primary ciliary dyskinesia.
Proc Natl Acad Sci U S A. 2002
Aug 6;99(16):10282-6.
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E,
Antonarakis SE, Mikkelsen M.
"Compensatory" uniparental disomy of chromosome 21 in two cases.
J Med Genet. 1994
Jul;31(7):534-40.
Bassett LL, Michaelis RC, Geiger MH, Tarleton J, Moore CL, Knops JF, Carroll
AJ, Proud VK.
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in
a boy with a balanced 3;21 translocation.
Am J Med Genet. 2001 Apr
15;100(1):85-6.
Bein G, Driller B, Schürmann M, Schneider PM, Kirchner H.
Pseudo-exclusion from paternity due to maternal uniparental disomy 16.
Int J Legal Med.
1998;111(6):328-30.
Beldjord C, Henry I, Bennani C, Vanhaeke D, Labie D.
Uniparental disomy: a novel mechanism for thalassemia major.
Blood. 1992 Jul 1;80(1):287-9.
Kalousek DK, Howard-Peebles PN,
Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD.
Confirmation of CVS mosaicism in term placentae and high frequency of
intrauterine growth retardation association with confined placental
mosaicism.
Prenat Diagn. 1991
Oct;11(10):743-50.
Robinson WP, Barrett IJ, Bernard
L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois
S, Kalousek DK.
Meiotic origin of trisomy in confined placental mosaicism is
correlated with presence of fetal uniparental disomy, high levels of trisomy
in trophoblast, and increased risk of fetal intrauterine growth restriction.
Am J Hum Genet. 1997
Apr;60(4):917-27.
Dworniczak B, Koppers B,
Kurlemann G, Holzgreve W, Horst J, Miny P.
Uniparental disomy with normal phenotype.
Lancet. 1992 Nov
21;340(8830):1285.
Sutcliffe MJ,
Mueller OT, Gallardo LA, Papenhausen PR, Tedesco TA.
Maternal isodisomy in a normal 46,XX following trisomic conception.
Am J Hum Genet 53:A1464.
O'Riordan S, Greenough A, Moore
GE, Bennett P, Nicolaides KH.
Case report: uniparental disomy 16 in association with congenital
heart disease.
Prenat Diagn. 1996
Oct;16(10):963-5.
Woo V, Bridge PJ, Bamforth JS.
Maternal uniparental heterodisomy for chromosome 16: case report.
Am J Med Genet. 1997 Jun 27;70(4):387-90.
Lindor NM, Jalal SM, Thibodeau
SN, Bonde D, Sauser KL, Karnes PS.
Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for
chromosome 16.
Clin Genet. 1993
Oct;44(4):185-9.
Davies GAL, Gad IK,
Diamond T, Papenhausen P.
Discordant maternal serum amniotic fluid alpha-fetoprotein results in
mosaic trisomy 16 pregnancies.
Am J Hum Genet 1995; 57:A278.
Paulyson KJ, Sherer DM,
Christian SL, Lewis KM, Ledbetter DH, Salafia CM, Meck JM.
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal
origin.
Prenat Diagn. 1996
Nov;16(11):1021-6.
Hsu LY, Yu MT, Neu RL, Van Dyke
DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang
H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ,
Wyatt P.
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome
other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
Prenat Diagn. 1997
Mar;17(3):201-42.
Berends MJ, Hordijk R, Scheffer
H, Oosterwijk JC, Halley DJ, Sorgedrager N.
Two cases of maternal uniparental disomy 14 with a phenotype
overlapping with the Prader-Willi phenotype.
Am J Med Genet. 1999 May
7;84(1):76-9.
Berend SA, Feldman GL, McCaskill
C, Czarnecki P, Van Dyke DL, Shaffer LG.
Investigation of two cases of paternal disomy 13 suggests timing of
isochromosome formation and mechanisms leading to uniparental disomy.
Am J Med Genet. 1999 Jan
29;82(3):275-81.
Berend SA, Horwitz J, McCaskill
C, Shaffer LG.
Identification of uniparental disomy following prenatal detection of
Robertsonian translocations and isochromosomes.
Am J Hum Genet. 2000 Jun;66(6):1787-93.
Berend SA, Bejjani BA, McCaskill
C, Shaffer LG.
Identification of uniparental disomy in phenotypically abnormal
carriers of isochromosomes or Robertsonian translocations.
Am J Med Genet. 2002 Sep
1;111(4):362-5.
Walter CA, Shaffer LG, Kaye CI,
Huff RW, Ghidoni PD, McCaskill C, McFarland MB, Moore CM.
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with
paternal isodisomy 14: 45,XY,idic(14)(p11).
Am J Med Genet. 1996 Nov
11;65(4):259-65.
Bernard LE, Peñaherrera MS, Van
Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.
Clinical and molecular findings in two patients with russell-silver
syndrome and UPD7: comparison with non-UPD7 cases.
Am J Med Genet. 1999 Nov
26;87(3):230-6.
Lindenbaum RH, Woods CG, Norbury CG,
Powey S, Rysteck G.
An individual with maternal disomy of chromosome 4 and iso(4p)
and iso(4q).
Am J Hum Genet 1991; 49 suppl; A285.
Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB.
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with
multiple anomalies.
Am J Med Genet A. 2004 Jan
30;124A(3):274-9.
Bilimoria KY, Rothenberg JM.
Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7
mosaic fetus.
Am J Med Genet A. 2003 Apr 1;118A(1):60-3.
Binder G, Seidel AK, Weber K,
Haase M, Wollmann HA, Ranke MB, Eggermann T.
IGF-II serum levels are normal in children with Silver-Russell
syndrome who frequently carry epimutations at the IGF2 locus.
J Clin Endocrinol Metab. 2006 Nov;91(11):4709-12.
Binder G, Seidel AK, Martin DD,
Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB.
The endocrine phenotype in silver-russell syndrome is defined by the
underlying epigenetic alteration.
J Clin Endocrinol Metab. 2008
Apr;93(4):1402-7.
Bischoff FZ, Feldman GL,
McCaskill C, Subramanian S, Hughes MR, Shaffer LG.
Single cell analysis demonstrating somatic mosaicism involving 11p in
a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.
Hum Mol Genet. 1995 Mar;4(3):395-9.
Bischoff FZ, Zenger-Hain J,
Moses D, Van Dyke DL, Shaffer LG.
Mosaicism for trisomy 12: four cases with varying outcomes.
Prenat Diagn. 1995 Nov;15(11):1017-26.
Björck EJ, Anderlid BM, Blennow
E.
Maternal isodisomy of chromosome 9 with no impact on the phenotype in
a woman with two isochromosomes: i(9p) and i(9q).
Am J Med Genet. 1999 Nov
5;87(1):49-52.
Blouin JL, Avramopoulos D,
Pangalos C, Antonarakis SE.
Normal phenotype with paternal uniparental isodisomy for chromosome
21.
Am J Hum Genet. 1993
Nov;53(5):1074-8.
Boer H, Holland A, Whittington
J, Butler J, Webb T, Clarke D.
Psychotic illness in people with Prader Willi syndrome due to
chromosome 15 maternal uniparental disomy.
Lancet. 2002 Jan
12;359(9301):135-6.
Bonet Alcaina M, García-Algar O,
Herrero Pérez S, Mombiela Vidal R, Pérez Jurado LA, Mur Sierra A.
[Transient neonatal diabetes associated with uniparental isodisomy of
chromosome 6]
An Esp Pediatr. 2002
Jun;56(6):567-70. Spanish.
Borelina D, Engel N, Esperante
S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I.
Combined cytogenetic and molecular analyses for the diagnosis of
Prader-Willi/Angelman syndromes.
J Biochem Mol Biol. 2004 Sep
30;37(5):522-6.
Bottani A, Robinson WP, DeLozier-Blanchet
CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A.
Angelman syndrome due to paternal uniparental disomy of chromosome
15: a milder phenotype?
Am J Med Genet. 1994 May
15;51(1):35-40.
Bruce S, Leinonen R, Lindgren
CM, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J.
Global analysis of uniparental disomy using high density genotyping
arrays.
J Med Genet. 2005 Nov;42(11):847-51.
Bruce S, Hannula-Jouppi K,
Lindgren CM, Lipsanen-Nyman M, Kere J.
Restriction site-specific methylation studies of imprinted genes with
quantitative real-time PCR.
Clin Chem. 2008 Mar;54(3):491-9.
Hannula K, Lipsanen-Nyman M,
Kontiokari T, Kere J.
A narrow segment of maternal uniparental disomy of chromosome
7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
Am J Hum Genet. 2001
Jan;68(1):247-53.
Hannula K, Lipsanen-Nyman M,
Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J.
Genetic screening for maternal uniparental disomy of chromosome 7 in
prenatal and postnatal growth retardation of unknown cause.
Pediatrics. 2002 Mar;109(3):441-8.
Höglund P, Holmberg C, de la
Chapelle A, Kere J.
Paternal isodisomy for chromosome 7 is compatible with normal growth
and development in a patient with congenital chloride diarrhea.
Am J Hum Genet. 1994
Oct;55(4):747-52.
Bruce S, Hannula-Jouppi K,
Peltonen J, Kere J, Lipsanen-Nyman M.
Clinically distinct epigenetic subgroups in Silver-Russell syndrome:
the degree of H19 hypomethylation associates with phenotype severity and
genital and skeletal anomalies.
J Clin Endocrinol Metab. 2009
Feb;94(2):579-87.
Bruyère H, Rupps R, Kuchinka BD,
Friedman JM, Robinson WP.
Recurrent trisomy 21 in a couple with a child presenting trisomy 21
mosaicism and maternal uniparental disomy for chromosome 21 in the euploid
cell line.
Am J Med Genet. 2000 Sep
4;94(1):35-41.
Bullman H, Lever M, Robinson DO,
Mackay DJ, Holder SE, Wakeling EL.
Mosaic maternal uniparental disomy of chromosome 11 in a patient with
Silver-Russell syndrome.
J Med Genet. 2008
Jun;45(6):396-9.
Butler MG, Hedges LK, Rogan PK,
Seip JR, Cassidy SB, Moeschler JB.
Klinefelter and trisomy X syndromes in patients with Prader-Willi
syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
Am J Med Genet. 1997 Oct
3;72(1):111-4.
Ferrante E, Brinchi V, Marioni
P, Galletti F.
[Prader-Labhart-Willi syndrome with 47,XXX karyotype.
Etio-pathogenetic considerations]
Minerva Pediatr. 1986 Apr
30;38(8):271-4. Italian.
Trent RJ, Volpato F, Smith A,
Lindeman R, Wong MK, Warne G, Haan E.
Molecular and cytogenetic studies of the Prader-Willi syndrome.
J Med Genet. 1991
Oct;28(10):649-54.
Cassidy SB, Lai LW, Erickson RP,
Magnuson L, Thomas E, Gendron R, Herrmann J.
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi
syndrome due to maternal disomy.
Am J Hum Genet. 1992
Oct;51(4):701-8.
Cassidy SB, Forsythe M, Heeger
S, Nicholls RD, Schork N, Benn P, Schwartz S.
Comparison of phenotype between patients with Prader-Willi syndrome
due to deletion 15q and uniparental disomy 15.
Am J Med Genet. 1997 Feb
11;68(4):433-40.
Castiglia D, Castori M,
Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C.
Trisomic rescue causing reduction to homozygosity for a novel ABCA12
mutation in harlequin ichthyosis.
Clin Genet. 2009 Oct;76(4):392-7.
Bakker B, Bikker H, Hennekam RC, Lommen EJ, Schipper MG, Vulsma T, de
Vijlder JJ.
Maternal isodisomy for chromosome 2p causing severe congenital
hypothyroidism.
J Clin Endocrinol Metab. 2001
Mar;86(3):1164-8.
Catchpoole D, Lam WW, Valler D,
Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
Epigenetic modification and uniparental inheritance of H19 in
Beckwith-Wiedemann syndrome.
J Med Genet. 1997
May;34(5):353-9.
Cavé H, Polak M, Drunat S,
Denamur E, Czernichow P.
Refinement of the 6q chromosomal region implicated in transient
neonatal diabetes.
Diabetes. 2000 Jan;49(1):108-13.
Chan CT, Clayton-Smith J, Cheng
XJ, Buxton J, Webb T, Pembrey ME, Malcolm S.
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
J Med Genet. 1993
Nov;30(11):895-902.
Chan Y, Silverman N, Jackson L,
Wapner R, Wallerstein R.
Maternal uniparental disomy of chromosome 16 and body stalk anomaly.
Am J Med Genet. 2000 Oct
2;94(4):284-6.
Chávez B, Valdez E, Vilchis F.
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
J Clin Endocrinol Metab. 2000
Sep;85(9):3147-50.
Chevalier-Porst F, Rolland MO,
Cochat P, Bozon D.
Maternal isodisomy of the telomeric end of chromosome 2 is
responsible for a case of primary hyperoxaluria type 1.
Am J Med Genet A. 2005 Jan
1;132A(1):80-3.
Chou YY, Chen CC, Kuo PL, Tsai
WH, Lin SJ.
Russell-Silver syndrome: molecular diagnosis of maternal uniparental
disomy of chromosome 7 using methylation-specific polymerase chain reaction
assay and single nucleotide polymorphisms genotyping.
J Formos Med Assoc. 2004
Oct;103(10):797-802.
Christian SL, Rich BH, Loebl C,
Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH.
Significance of genetic testing for paternal uniparental disomy of
chromosome 6 in neonatal diabetes mellitus.
J Pediatr. 1999 Jan;134(1):42-6.
Chu C, Schwartz S, McPherson E.
Paternal uniparental isodisomy for chromosome 14 in a patient
with a normal 46,XY karyotype.
Am J Med Genet A. 2004 Jun
1;127A(2):167-71.
Cockwell AE, Baker SJ, Connarty
M, Moore IE, Crolla JA.
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week
gestation fetus with atrioventricular septal defect.
Am J Med Genet A. 2006 Mar
15;140(6):624-7.
Cooper WN, Curley R, Macdonald
F, Maher ER.
Mitotic recombination and uniparental disomy in Beckwith-Wiedemann
syndrome.
Genomics. 2007 May;89(5):613-7.
Cooper WN, Luharia A, Evans GA,
Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J,
Schofield PN, Reik W, Macdonald F, Maher ER.
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann
syndrome.
Eur J Hum Genet. 2005
Sep;13(9):1025-32.
Cotter PD, Kaffe S, McCurdy LD,
Jhaveri M, Willner JP, Hirschhorn K.
Paternal uniparental disomy for chromosome 14: a case report and
review.
Am J Med Genet. 1997 May
2;70(1):74-9.
Coveler KJ, Yang SP, Sutton R,
Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG.
A case of segmental paternal isodisomy of chromosome 14.
Hum Genet. 2002
Mar;110(3):251-6.
Coviello DA, Panucci E, Mantero
MM, Perfumo C, Guelfi M, Borrone C, Dagna Bricarelli F.
Maternal uniparental disomy for chromosome 14.
Acta Genet Med Gemellol (Roma).
1996;45(1-2):169-72.
Cox H, Bullman H, Temple IK.
Maternal UPD(14) in the patient with a normal karyotype: clinical
report and a systematic search for cases in samples sent for testing for
Prader-Willi syndrome.
Am J Med Genet A. 2004 May
15;127A(1):21-5.
Dan B, Boyd SG, Christiaens F,
Courtens W, Van Maldergem L, Kahn A.
Atypical features in Angelman syndrome due to imprinting defect of
uniparental disomy of chromosome 15.
Neuropediatrics. 2000
Apr;31(2):109-10.
Damaj L, le Lorch M, Verkarre V,
Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP,
Bellanne-Chantelot C, de Lonlay P, Jaubert F.
Chromosome 11p15 paternal isodisomy in focal forms of neonatal
hyperinsulinism.
J Clin Endocrinol Metab. 2008
Dec;93(12):4941-7.
Das S, Lese CM, Song M, Jensen
JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM,
Ledbetter DH, Schnur RE.
Partial paternal uniparental disomy of chromosome 6 in an infant with
neonatal diabetes, macroglossia, and craniofacial abnormalities.
Am J Hum Genet. 2000
Dec;67(6):1586-91.
Abramowicz MJ, Andrien M, Dupont
E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E.
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia
and agenesis of pancreatic beta cells causing diabetes mellitus.
J Clin Invest. 1994
Jul;94(1):418-21.
de Pater JM, Schuring-Blom GH,
van den Bogaard R, van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P,
Leschot NJ.
Maternal uniparental disomy for chromosome 22 in a child with
generalized mosaicism for trisomy 22.
Prenat Diagn. 1997
Jan;17(1):81-6.
Depienne C, Moreno-De-Luca D,
Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP,
Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson
M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg
C, Betancur C.
Screening for genomic rearrangements and methylation abnormalities of
the 15q11-q13 region in autism spectrum disorders.
Biol Psychiatry. 2009 Aug
15;66(4):349-59.
Devriendt K, Matthijs G, Claes
S, Legius E, Proesmans W, Cassiman JJ, Fryns JP.
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic
triplo-X: a molecular analysis.
J Med Genet. 1997
Apr;34(4):318-22.
Diatloff-Zito C, Nicole A,
Marcelin G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ.
Genetic and epigenetic defects at the 6q24 imprinted locus in a
cohort of 13 patients with transient neonatal diabetes: new hypothesis
raised by the finding of a unique case with hemizygotic deletion in the
critical region.
J Med Genet. 2007
Jan;44(1):31-7.
Dorchy H.
[Neonatal diabetes mellitus caused by congenital absence of beta
cells associated with methylmalonic acidemia due to uniparental disomy of
chromosome 6]
Arch Pediatr. 1995 Feb;2(2):188.
Dupont JM, Cuisset L, Cartigny
M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M.
Familial reciprocal translocation t(7;16) associated with maternal
uniparental disomy 7 in a Silver-Russell patient.
Am J Med Genet. 2002 Sep
1;111(4):405-8.
Eggermann T, Marg W,
Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S.
Origin of uniparental disomy 6: presentation of a new case and review
on the literature.
Ann Genet. 2001
Jan-Mar;44(1):41-5.
Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis SE, Plouvier E, Herve P,
Tiberghien P.
Fortuitous detection of uniparental isodisomy of chromosome 6.
J Med Genet. 1997
Jan;34(1):77-8.
Dutly F, Baumer A, Kayserili H,
Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A.
Seven cases of Wiedmann-Beckwith syndrome, including the first
reported case of mosaic paternal isodisomy along the whole chromosome 11.
Am J Med Genet. 1998 Oct
12;79(5):347-53.
Eggermann T, Mergenthaler S,
Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA.
Identification of interstitial maternal uniparental disomy (UPD) (14)
and complete maternal UPD(20) in a cohort of growth retarded patients.
J Med Genet. 2001
Feb;38(2):86-9.
Eggermann T, Meyer E, Ranke MB,
Holder M, Spranger S, Zerres K, Wollmann HA.
Diagnostic proceeding in Silver-Russell syndrome.
Mol Diagn. 2005;9(4):205-9.
Eggermann T, Schönherr N,
Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G.
Use of multiplex ligation-dependent probe amplification increases the
detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
Clin Genet. 2008
Jan;73(1):79-84.
Eggermann T, Schönherr N, Jäger
S, Spaich C, Ranke MB, Wollmann HA, Binder G.
Segmental maternal UPD(7q) in Silver-Russell syndrome.
Clin Genet. 2008
Nov;74(5):486-9.
Bonaglia MC, Giorda R, Beri S,
Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R,
Deloukas P, Dunham I, Zuffardi O.
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental
isodisomy and gene conversion.
Eur J Hum Genet. 2009
Apr;17(4):426-33.
Conlin LK, Thiel BD, Bonnemann
CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H,
Spinner NB.
Mechanisms of mosaicism, chimerism and uniparental disomy identified
by single nucleotide polymorphism array analysis.
Hum Mol Genet. 2010;
19: 1263-1275.
Eggermann T, Gonzalez D,
Spengler S, Arslan-Kirchner M, Binder G, Schönherr N.
Broad clinical spectrum in Silver-Russell syndrome and consequences
for genetic testing in growth retardation.
Pediatrics. 2009
May;123(5):e929-31.
Falk MJ, Curtis CA, Bass NE,
Zinn AB, Schwartz S.
Maternal uniparental disomy chromosome 14: case report and literature
review.
Pediatr Neurol. 2005
Feb;32(2):116-20.
Fares F, David M, Lerner A,
Diukman R, Lerer I, Abeliovich D, Rivlin J.
Paternal isodisomy of chromosome 7 with cystic fibrosis and
overgrowth.
Am J Med Genet A. 2006 Aug
15;140(16):1785-8.
Fassihi H, Lu L, Wessagowit V,
Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio
JE, McGrath JA.
Complete maternal isodisomy of chromosome 3 in a child with recessive
dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
J Invest Dermatol. 2006
Sep;126(9):2039-43.
Pan Y, McCaskill CD, Harrison GM,
Hicks J, Casey B, Shaffer LG, Craigen WJ.
Paternal uniparental disomy of chromosome 7 associated with complete situs
inversus and immotile cilia.
Am J Hum Genet 59:547.
Ferrer-Bolufer I, Dalmau J,
Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez
F.
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental
isodisomy 15.
J Inherit Metab Dis. 2009 Dec
23. [Epub ahead of print]
Feuk L, Kalervo A, Lipsanen-Nyman
M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk
MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB,
Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K.
Absence of a paternally inherited FOXP2 gene in developmental verbal
dyspraxia.
Am J Hum Genet. 2006
Nov;79(5):965-72.
Hannula K, Kere J, Pirinen S,
Holmberg C, Lipsanen-Nyman M.
Do patients with maternal uniparental disomy for chromosome 7 have a
distinct mild Silver-Russell phenotype?
J Med Genet. 2001
Apr;38(4):273-8.
Fokstuen S, Ginsburg C, Zachmann
M, Schinzel A.
Maternal uniparental disomy 14 as a cause of intrauterine growth
retardation and early onset of puberty.
J Pediatr. 1999
Jun;134(6):689-95.
Curtis L, Antonelli E, Vial Y,
Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S.
Prenatal diagnostic indicators of paternal uniparental disomy 14.
Prenat Diagn. 2006
Aug;26(8):662-6.
Barton DE, McQuaid S, Stallings R,
Griffin E, Geraghty M.
Further evidence for an emerging maternal uniparental disomy. analysis of a
phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier.
Am J Hum Genet 1996:59(Suppl): 698.
Desilets VA, Yong SL, Kalousek DK,
Pantzer TJ, Kwong LC, Siemens C, et al.
Maternal uniparental disomy for chromosome 14.
Am J Hum Genet 1997:61(Suppl): 691.
Morichon-Delvallez N, Seques B,
Pinson MP, Bérubé D, Dommerques M, Aubry MC, et al.
Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of
an initial trisomy.
Am J Hum Genet 1994;55(Suppl):2224.
Link L, McMilin K, Popovich B,
Magenis RE.
Maternal uniparental disomy for chromosome 14.
Am J Hum Genet 1996;59(Suppl):687.
Towner DR, Shaffer LG, Yang SP, Walgenbach DD.
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy
in association with elevated second trimester maternal serum human chorionic
gonadotrophin and third trimester fetal growth restriction.
Prenat Diagn. 2001
May;21(5):395-8.
Harrison KJ, Allingham-Hawkins DJ,
Hummel J, Meschino WS, Cox DW, Costa TM, et al.
Risk of uniparental disomy in Robertsonian translocation carriers:
identification of UPD14 in a small cohort.
Am J Hum Genet 1998;63(Suppl):51.
Font-Montgomery E, Stone KM,
Weaver DD, Vance GH, Das S, Thurston VC.
Clinical outcome and follow-up of the first reported case of
Russell-Silver syndrome with the unique combination of maternal uniparental
heterodisomy 7 and mosaic trisomy 7.
Birth Defects Res A Clin Mol Teratol.
2005 Aug;73(8):577-82.
Fremeaux-Bacchi V, Sanlaville D,
Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH.
Unusual clinical severity of complement membrane cofactor
protein-associated hemolytic-uremic syndrome and uniparental isodisomy.
Am J Kidney Dis. 2007
Feb;49(2):323-9.
Freeman SB, May KM, Pettay D,
Fernhoff PM, Hassold TJ.
Paternal uniparental disomy in a child with a balanced 15;15
translocation and Angelman syndrome.
Am J Med Genet. 1993 Mar
1;45(5):625-30.
Fritz B, Aslan M, Kalscheuer V,
Ramsing M, Saar K, Fuchs B, Rehder H.
Low incidence of UPD in spontaneous abortions beyond the 5th
gestational week.
Eur J Hum Genet. 2001
Dec;9(12):910-6.
Curtis L, Antonelli E, Vial Y,
Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S.
Prenatal diagnostic indicators of paternal uniparental disomy 14.
Prenat Diagn. 2006
Aug;26(8):662-6.
Fridman C, Koiffmann CP.
Origin of uniparental disomy 15 in patients with Prader-Willi or
Angelman syndrome.
Am J Med Genet. 2000 Sep
18;94(3):249-53.
Garber A, Carlson D, Schreck R,
Fischel-Ghodsian N, Hsu WT, Oeztas S, Pepkowitz S, Graham JM Jr.
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.
Prenat Diagn. 1994
Apr;14(4):257-66.
Gardner RJ, Robinson DO, Lamont
L, Shield JP, Temple IK.
Paternal uniparental disomy of chromosome 6 and transient neonatal
diabetes mellitus.
Clin Genet. 1998
Dec;54(6):522-5.
Gardner RJ, Mungall AJ, Dunham
I, Barber JC, Shield JP, Temple IK, Robinson DO.
Localisation of a gene for transient neonatal diabetes mellitus to an
18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.
J Med Genet. 1999
Mar;36(3):192-6.
Genuardi M, Tozzi C, Pomponi MG,
Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G.
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue
distribution, and uniparental disomy studies.
Eur J Hum Genet. 1999
May-Jun;7(4):421-6.
Giardina E, Peconi C, Cascella
R, Sinibaldi C, Nardone AM, Novelli G.
A multiplex molecular assay for the detection of uniparental disomy
for human chromosome 15.
Electrophoresis. 2008
Dec;29(23):4775-9.
Giardina E, Peconi C, Cascella
R, Sinibaldi C, Foti Cuzzola V, Nardone AM, Bramanti P, Novelli G.
A multiplex molecular assay for the detection of uniparental disomy
for human chromosome 7.
Electrophoresis. 2009
Jun;30(11):2008-11.
Gillessen-Kaesbach G, Albrecht
B, Passarge E, Horsthemke B.
Further patient with Angelman syndrome due to paternal disomy of
chromosome 15 and a milder phenotype.
Am J Med Genet. 1995 Apr
10;56(3):328-9.
Ginsburg C, Fokstuen S, Schinzel
A.
The contribution of uniparental disomy to congenital development
defects in children born to mothers at advanced childbearing age.
Am J Med Genet. 2000 Dec
18;95(5):454-60.
Schinzel A, Kotzot D, Brecevic
L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B.
Trisomy first, translocation second, uniparental disomy and partial
trisomy third: a new mechanism for complex chromosomal aneuploidy.
Eur J Hum Genet. 1997
Sep-Oct;5(5):308-14.
Grati FR, Turolla L, D'Ajello P,
Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L,
Boldorini R, Frate E, Surico N, Larizza L, Maggi
F, Simoni G.
Chromosome 11 segmental paternal isodisomy in amniocytes from two
fetuses with omphalocoele: new highlights on phenotype-genotype correlations
in Beckwith-Wiedemann syndrome.
J Med Genet. 2007
Apr;44(4):257-63.
Guettard E, Portnoi MF,
Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I,
Leu S, Apartis E, Vidailhet M, Klein C, Roze E.
Myoclonus-dystonia due to maternal uniparental disomy.
Arch Neurol. 2008
Oct;65(10):1380-5.
Gyftodimou J, Karadima G,
Pandelia E, Vassilopoulos D, Petersen MB.
Angelman syndrome with uniparental disomy due to paternal meiosis II
nondisjunction.
Clin Genet. 1999
Jun;55(6):483-6.
Hong M, Beischel L, Rakeach J,
Wallace D, Knops J, O'Connor K, Johnson J, Ibrahim J.
Prenatal detection of maternal uniparental disomy (UPD) of chromosome 6 and
'rescue' of Trisomy 6.
Abstrcats of the 57th annual meeting of theh ASHG 2007; Abstractno 2428
Hahnemann JM, Nir M, Friberg M,
Engel U, Bugge M.
Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn
infant with severe congenital malformations.
Am J Med Genet A. 2005 Oct
1;138A(2):150-4.
Hannula K, Lipsanen-Nyman M,
Kontiokari T, Kere J.
A narrow segment of maternal uniparental disomy of chromosome
7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
Am J Hum Genet. 2001
Jan;68(1):247-53.
Hannula K, Kere J, Pirinen S,
Holmberg C, Lipsanen-Nyman M.
Do patients with maternal uniparental disomy for chromosome 7 have a
distinct mild Silver-Russell phenotype?
J Med Genet. 2001
Apr;38(4):273-8.
Hannula K, Lipsanen-Nyman M,
Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P,
Holmberg C, Kere J.
Genetic screening for maternal uniparental disomy of chromosome 7 in
prenatal and postnatal growth retardation of unknown cause.
Pediatrics. 2002
Mar;109(3):441-8.
Hansen WF, Bernard LE, Langlois
S, Rao KW, Chescheir NC, Aylsworth AS, Smith DI, Robinson WP, Barrett IJ,
Kalousek DK.
Maternal uniparental disomy of chromosome 2 and confined placental
mosaicism for trisomy 2 in a fetus with intrauterine growth restriction,
hypospadias, and oligohydramnios.
Prenat Diagn. 1997
May;17(5):443-50.
Harrison K, Eisenger K,
Anyane-Yeboa K, Brown S.
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2
mosaicism in amniotic fluid culture.
Am J Med Genet. 1995 Aug
28;58(2):147-51.
Healey S, Powell F, Battersby M,
Chenevix-Trench G, McGill J.
Distinct phenotype in maternal uniparental disomy of chromosome 14.
Am J Med Genet. 1994 Jun
1;51(2):147-9.
Heide E, Heide KG, Rodewald A.
Maternal uniparental disomy (UPD) for chromosome 2 discovered by
exclusion of paternity.
Am J Med Genet. 2000 Jun
5;92(4):260-3.
Henderson DJ, Sherman LS,
Loughna SC, Bennett PR, Moore GE.
Early embryonic failure associated with uniparental disomy for human
chromosome 21.
Hum Mol Genet. 1994
Aug;3(8):1373-6.
Henry I, Puech A, Riesewijk A,
Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P, Junien
C.
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith
syndrome: a post-fertilization event.
Eur J Hum Genet.
1993;1(1):19-29.
Henry I, Bonaiti-Pellié C,
Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C.
Uniparental paternal disomy in a genetic cancer-predisposing
syndrome.
Nature. 1991 Jun
20;351(6328):665-7.
Hermann R, Laine AP, Johansson
C, Niederland T, Tokarska L, Dziatkowiak H, Ilonen J, Soltész G.
Transient but not permanent neonatal diabetes mellitus is associated
with paternal uniparental isodisomy of chromosome 6.
Pediatrics. 2000 Jan;105(1 Pt
1):49-52.
Hermann R, Soltész G.
Paternal uniparental isodisomy of chromosome 6 in transient neonatal
diabetes mellitus.
Eur J Pediatr. 1997
Sep;156(9):740.
Herzfeld T, Wolf N, Winter P,
Hackstein H, Vater D, Müller U.
Maternal uniparental heterodisomy with partial isodisomy of a
chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2
causes infantile-onset ascending spastic paralysis (IAHSP).
Neurogenetics. 2009
Feb;10(1):59-64.
Hoffman TL, Blanco E, Lane A,
Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
Glucose metabolism and insulin secretion in a patient with ABCC8
mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of
chromosome 3.
Clin Genet. 2007
Jun;71(6):551-7.
Honma A, Ishii R, Ito A, Kato M,
Saitoh S, Hayasaka K.
Prader-Willi syndrome in a child with XYY.
J Hum Genet. 1999;44(6):412-3.
Hordijk R, Wierenga H, Scheffer
H, Leegte B, Hofstra RM, Stolte-Dijkstra I.
Maternal uniparental disomy for chromosome 14 in a boy with a normal
karyotype.
J Med Genet. 1999
Oct;36(10):782-5.
Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C,
Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R.
Screening of DNA methylation at the H19 promoter or the distal region
of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in
Russell-Silver syndrome.
Am J Med Genet A. 2009
Nov;149A(11):2415-23.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ,
Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P,
Herbrick JA, Weksberg R, Scherer SW.
Molecular genetic studies of human chromosome 7 in Russell-Silver
syndrome.
Genomics. 2002 Feb;79(2):186-96.
Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S,
Lich C, Gillessen-Kaesbach G, Buiting K.
Somatic mosaicism for maternal uniparental disomy 15 in a girl with
Prader-Willi syndrome: confirmation by cell cloning and identification of
candidate downstream genes.
Hum Mol Genet. 2003 Oct
15;12(20):2723-32.
Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K,
Tohyama J, Ogata T, Saitoh S.
Maternal uniparental disomy 14 syndrome demonstrates prader-willi
syndrome-like phenotype.
J Pediatr. 2009
Dec;155(6):900-903.e1.
Hsu WT, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N,
Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang JC,
Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux CH, Trunca C, Bialer MG, Linn SK,
Schreck RR.
Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11
new cases.
Am J Med Genet. 1998 Dec
28;80(5):473-80.
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in
atypical diffuse congenital hyperinsulinism.
Diabetes. 2008 Jan;57(1):259-63.
Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S.
Non-chromosome 15 marker chromosome in a Prader-Willi syndrome
patient with uniparental disomy.
Pediatr Int. 2006
Feb;48(1):97-9.
Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V,
Brown DL, Brooks A, Endo F, Matsuda I.
Congenital insensitivity to pain with anhidrosis (CIPA): novel
mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a
linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate
kinase deficiency.
Hum Mutat. 2001
Oct;18(4):308-18.
Itoh N, Becroft DM, Reeve AE, Morison IM.
Proportion of cells with paternal 11p15 uniparental disomy correlates
with organ enlargement in Wiedemann-beckwith syndrome.
Am J Med Genet. 2000 May
15;92(2):111-6.
Jones C, Booth C, Rita D, Jazmines L, Spiro R, McCulloch B, McCaskill C,
Shaffer LG.
Identification of a case of maternal uniparental disomy of chromosome
10 associated with confined placental mosaicism.
Prenat Diagn. 1995
Sep;15(9):843-8.
Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S,
Ishino F, Kurosawa K, Ogata T.
Segmental and full paternal isodisomy for chromosome 14 in three
patients: narrowing the critical region and implication for the clinical
features.
Am J Med Genet A. 2005 Oct
1;138A(2):127-32.
Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
Placentomegaly in paternal uniparental disomy for human chromosome
14.
Placenta. 2008 Aug;29(8):760-1.
Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai
D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2
mutation due to complete chromosome 2 paternal isodisomy.
Am J Med Genet A. 2008 Jul
15;146A(14):1842-7.
Karanjawala ZE, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D,
Tuomilehto J, Valle T, Collins FS.
Complete maternal isodisomy of chromosome 8 in an individual with an
early-onset ileal carcinoid tumor.
Am J Med Genet. 2000 Jul
31;93(3):207-10.
Katahira M, Kayashima T, Kishino T, Niikawa N.
Maternal uniparental disomy for chromosome 14 with diabetes mellitus.
Intern Med. 2002
Sep;41(9):717-21.
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N,
Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T.
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
Am J Med Genet. 2002 Jul
22;111(1):38-42.
Keller MC, McRae AF, McGaughran JM, Visscher PM, Martin NG, Montgomery GW.
Non-pathological paternal isodisomy of chromosome 2 detected from a
genome-wide SNP scan.
Am J Med Genet A. 2009
Aug;149A(8):1823-6.
Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA.
Concurrent course of transient neonatal diabetes with cholestasis and
paucity of interlobular bile ducts: a case report.
Pediatr Dev Pathol. 2009
Sep-Oct;12(5):417-20.
Kim Y, Kim SS, Kim G, Park S, Park IS, Yoo HW.
Detection of maternal uniparental disomy at the two imprinted genes
on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient
using methylation-specific PCR assays.
Clin Genet. 2005
Mar;67(3):267-9.
Kirkels VG, Hustinx TW, Scheres JM.
Habitual abortion and translocation (22q;22q): unexpected
transmission from a mother to her phenotypically normal daughter.
Clin Genet. 1980
Dec;18(6):456-61.
Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I.
First confirmed case with paternal uniparental disomy of chromosome
16.
Am J Med Genet. 2000 Mar
20;91(3):190-1.
Kondo Y, Tsukishiro S, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S.
Maternal uniparental disomy of chromosome 16 in a case of spontaneous
abortion.
J Hum Genet. 2004;49(4):177-81.
Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N.
Diagnosis of maternal uniparental disomy of chromosome 7 with a
methylation specific PCR assay.
J Med Genet. 2000 Sep;37(9):E19.
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K,
Hamel BC, Otten BJ, Hergersberg M, E Werder, E Schoenle, A Schinzel.
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth
retardation.
Hum Mol Genet. 1995
Apr;4(4):583-7.
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H,
Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel
A.
Maternal uniparental disomy 7--review and further delineation of the
phenotype.
Eur J Pediatr. 2000
Apr;159(4):247-56.
Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek
DK, Robinson WP.
Two cases of confined placental mosaicism for chromosome 4, including
one with maternal uniparental disomy.
Prenat Diagn. 2001
Jan;21(1):36-9.
Lai LW, Erickson RP, Cassidy SB.
Clinical correlates of chromosome 15 deletions and maternal disomy in
Prader-Willi syndrome.
Am J Dis Child. 1993
Nov;147(11):1217-23.
Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK.
Prenatal and postnatal growth failure associated with maternal heterodisomy
for chromosome 7.
J Med Genet. 1995
Nov;32(11):871-5.
Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP.
Skewed X-chromosome inactivation is common in fetuses or newborns
associated with confined placental mosaicism.
Am J Hum Genet. 1997
Dec;61(6):1353-61.
Lebre AS, Morinière V, Dunand O, Bensman A, Morichon-Delvallez N, Antignac
C.
Maternal uniparental heterodisomy of chromosome 17 in a patient with
nephropathic cystinosis.
Eur J Hum Genet. 2009
Aug;17(8):1019-23.
Le Caignec C, Isidor B, de Pontbriand U, David V, Audrezet MP, Ferec C,
David A.
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a
new patient presenting with normal growth.
Am J Med Genet A. 2007 Nov
15;143A(22):2696-9.
L'Herminé AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P,
Frydman R, Tachdjian G.
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for
chromosome 15.’
Prenat Diagn. 2003
Nov;23(11):938-43.
Li H, Meng S, Chen Z, Li H, Du M, Ma H, Wei H, Duan H, Zheng H, Wenren Q,
Song X.
Molecular genetic diagnostics of Prader-Willi Syndrome: a validation of
linkage analysis for the Chinese population.
J Genet Genomics. 2007
Oct;34(10):885-91.
López-Gutiérrez AU, Riba L, Ordoñez-Sánchez ML, Ramírez-Jiménez S, Cerrillo-Hinojosa
M, Tusié-Luna MT.
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase
deficiency: evidence of different genetic mechanisms involved in the
production of the disease.
J Med Genet. 1998
Dec;35(12):1014-9.
Lorda-Sanchez I, Binkert F, Hinkel KG, Moser H, Rosenkranz W, Maechler M,
Schinzel A.
Uniparental origin of sex chromosome polysomies.
Hum Hered. 1992;42(3):193-7.
Los FJ, van Opstal D, van den Berg C, Braat AP, Verhoef S, Wesby-van Swaay
E, van den Ouweland AM, Halley DJ.
Uniparental disomy with and without confined placental mosaicism: a model
for trisomic zygote rescue.
Prenat Diagn. 1998
Jul;18(7):659-68.
Van Opstal D, Van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE,
Halley DJ, Van den Ouweland AM, In 't Veld PA, Los FJ.
Prospective prenatal investigations on potential uniparental disomy in cases
of confined placental trisomy.
Prenat Diagn. 1998
Jan;18(1):35-44.
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JA, Jeffreys
AJ, Pembrey ME.
Uniparental paternal disomy in Angelman's syndrome.
Lancet. 1991 Mar
23;337(8743):694-7.
Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G,
Scholte HR, Genuardi M, Zammarchi E.
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental
isodisomy of the telomeric end of chromosome 16.
Ann Hum Genet. 2007 Nov;71(Pt
6):705-12.
Mansuet-Lupo A, Henke J, Henke L, Blank C, Ernsting A, Kozlowski P, Rouger
P, Van Huffel V.
A paternity case with three genetic incompatibilities between father and
child due to maternal uniparental disomy 21 and a mutation at the Y
chromosome.
Forensic Sci Int Genet. 2009
Mar;3(2):141-3.
Marquis E, Le Monnier de Gouville I, Bouvattier C, Robert JJ, Junien C,
Charron D, Hors J, Diatloff-Zito C.
HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal
diabetes mellitus. A study of 13 cases.
Tissue Antigens. 2000
Sep;56(3):217-22.
Marquis E, Robert JJ, Benezech C, Junien C, Diatloff-Zito C.
Variable features of transient neonatal diabetes mellitus with paternal
isodisomy of chromosome 6.
Eur J Hum Genet. 2000
Feb;8(2):137-40.
Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys
AJ, Ladda RL, Nicholls RD.
The frequency of uniparental disomy in Prader-Willi syndrome. Implications
for molecular diagnosis.
N Engl J Med. 1992 Jun
11;326(24):1599-607.
McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer
LG.
The importance of investigating for uniparental disomy in prenatally
identified balanced acrocentric rearrangements.
Prenat Diagn. 2002
Feb;22(2):141-3.
Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB,
Schwanitz G, Eggermann T.
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case
after trisomy 7 rescue. Presentation of own results and review of the
literature.
Ann Genet. 2000
Jan-Mar;43(1):15-21.
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke
MB.
Molecular studies in 37 Silver-Russell syndrome patients: frequency and
etiology of uniparental disomy.
Hum Genet. 1997
Sep;100(3-4):415-9.
Mergenthaler S, Sharp A, Ranke MB, Kalscheuer VM, Wollmann HA, Eggermann T.
Gene dosage analysis in Silver-Russell syndrome: use of quantitative
competitive PCR and dual-color FISH to estimate the frequency of
duplications in 7p11.2-p13.
Genet Test. 2001
Fall;5(3):261-6.
Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.
[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome]
Orv Hetil. 2001 Jul
22;142(29):1561-4.
Moraes LM, Cardoso LC, Moura VL, Moreira MA, Menezes AN, Llerena JC Jr,
Seuánez HN.
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.
Mol Cytogenet. 2009 Oct 7;2:20.
Middleton FA, Trauzzi MG, Shrimpton AE, Gentile KL, Morley CP, Medeiros H,
Pato MT, Pato CN.
Complete maternal uniparental isodisomy of chromosome 4 in a subject with
major depressive disorder detected by high density SNP genotyping arrays.
Am J Med Genet B Neuropsychiatr Genet.
2006 Jan 5;141B(1):28-32.
Milenkovic T, Zdravkovic D, Gardner RJ, Ignjatovic M, Jankovic B.
Transient neonatal diabetes mellitus in a child with paternal uniparental
disomy of chromosome 6.
J Pediatr Endocrinol Metab. 2001
Jul-Aug;14(7):893-5.
Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D.
Transient neonatal diabetes mellitus in an infant with paternal uniparental
disomy of chromosome 6 including heterodisomy for 6q24.
J Pediatr Endocrinol Metab. 2006
Nov;19(11):1353-7.
Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A.
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.
Am J Med Genet. 1996 Jan
22;61(3):269-73.
Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiù M, Radaelli T, Cassani
B, Persico T, Cetin I, Pardi G, Simoni G.
Post-zygotic origin of complete maternal chromosome 7 isodisomy and
consequent loss of placental PEG1/MEST expression.
Placenta. 2001
Nov;22(10):813-21.
Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N.
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine
growth retardation.
J Hum Genet. 1998;43(2):138-42.
Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T,
Numakura C, Takahashi S, Hayasaka K, Niikawa N.
Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for
chromosome 1.
Am J Med Genet. 2001 Dec
1;104(3):250-6.
Murthy SK, al-Nassar KE, Verghese L.
Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a
female with maternal uniparental disomy and a male with complex chromosomal
rearrangement.
Nutrition. 1995 Sep-Oct;11(5
Suppl):650-2.
Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti
A, Ledbetter DH.
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman
critical region (15q11-q13): molecular diagnosis and mechanism of
uniparental disomy.
Hum Mol Genet. 1993
Feb;2(2):143-51.
Nakamura Y, Nagai T, Iida T, Ozeki S, Nohara Y.
Epidemiological aspects of scoliosis in a cohort of Japanese patients with
Prader-Willi syndrome.
Spine J. 2009 Oct;9(10):809-16.
Nazarenko S, Sazhenova E, Baumer A, Schinzel A.
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an
infant with Prader-Willi syndrome.
Eur J Hum Genet. 2004
May;12(5):411-4.
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M,
Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand
AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C,
Cabrol S, Le Bouc Y.
11p15 imprinting center region 1 loss of methylation is a common and
specific cause of typical Russell-Silver syndrome: clinical scoring system
and epigenetic-phenotypic correlations.
J Clin Endocrinol Metab. 2007
Aug;92(8):3148-54. Epub 2007 May 15. Erratum in: J Clin Endocrinol Metab.
2007 Nov;92(11):4305.
Nicholls RD, Knoll JH, Butler, Karam S, Lalande M.
Genetic imprinting suggested by maternal heterodisomy in nondeletion
Prader-Willi syndrome.
Nature. 1989 Nov
16;342(6247):281-5.
Nicholls RD, Pai GS, Gottlieb W, Cantú ES.
Paternal uniparental disomy of chromosome 15 in a child with Angelman
syndrome.
Ann Neurol. 1992
Oct;32(4):512-8.
Noeker M, Wollmann HA.
Cognitive development in Silver-Russell syndrome: a sibling-controlled
study.
Dev Med Child Neurol. 2004
May;46(5):340-6.
Offiah AC, Cornette L, Hall CM.’
Paternal uniparental disomy 14: introducing the "coat-hanger" sign.
Pediatr Radiol. 2003
Jul;33(7):509-12.
Oiglane-Shlik E, Talvik T, Zordania R, Põder H, Kahre T, Raukas E, Ilus T,
Tasa G, Bartsch O, Väisänen ML, Ounap K.
Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian
children: sister syndromes not equally represented.
Am J Med Genet A. 2006 Sep
15;140(18):1936-43.
Olander E, Stamberg J, Steinberg L, Wulfsberg EA.
Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15
with mosaic trisomy 15.
Am J Med Genet. 2000 Jul
31;93(3):215-8.
Ouldim K, Sbiti A, Natiq A, El-Kerch F, Cherkaoui S, Sefiani A.
Unexpected fertility and paternal UPD 22.
Fertil Steril. 2008
Nov;90(5):2013.e13-5.
Palmer CG, Schwartz S, Hodes ME.
Transmission of a balanced homologous t(22q;22q) translocation from mother
to normal daughter.
Clin Genet. 1980
Jun;17(6):418-22.
Pálsson GI, Finnsdóttir V, Jóhannsson JH, Ingvarsson S.
[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann
syndrome. First reported case in Iceland]
Laeknabladid. 2005
Nov;91(11):837-40. Icelandic.
Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff
BG.
Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a
normal adult.
Am J Med Genet. 1995 Nov
20;59(3):271-5.
Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
Maternal disomy and Prader-Willi syndrome consistent with gamete
complementation in a case of familial translocation (3;15) (p25;q11.2).
Am J Med Genet. 1998 Jun
30;78(2):134-9.
Parker EA, Hovanes K, Germak J, Porter F, Merke DP.
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6
and X results in a child with 21-hydroxylase deficiency and Klinefelter
syndrome.
Am J Med Genet A. 2006 Oct
15;140(20):2236-40.
Splitt MP, Goodship JA.
Another case of maternal uniparental disomy chromosome 14 syndrome.
Am J Med Genet. 1997 Oct
17;72(2):239-40.
Splitt MP, Goodship JA.
Another case of maternal uniparental disomy chromosome 14 syndrome.
Am J Med Genet. 1997 Oct
17;72(2):239-40.
Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G,
Poüs C, Labrune P.
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I
syndrome.
Eur J Hum Genet. 2005
Mar;13(3):278-82.
Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B,
Danesino C, Schinzel A, Zuffardi O.
Ataxic gait and mental retardation with absence of the paternal chromosome 8
and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Hum Genet. 1997
Jun;99(6):766-71.
Potgieter S, Matthijs G, De Cock P, Fryns JP.
Preaxial polydactyly type 1 and severe language deficit in maternal
uniparental disomy of chromosome 7.
Eur J Pediatr. 2000
Dec;159(12):929-30.
Prasad C, Wagstaff J.
Genotype and phenotype in Angelman syndrome caused by paternal UPD 15.
Am J Med Genet. 1997 Jun
13;70(3):328-9.
Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE.
Maternal uniparental disomy 7 in Silver-Russell syndrome.
J Med Genet. 1997 Jan;34(1):6-9.
Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore
GE.
An analysis of the distribution of hetero- and isodisomic regions of
chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
J Med Genet. 1999
Jun;36(6):457-60.
Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW.
Uniparental disomy of the entire X chromosome in a female with Duchenne
muscular dystrophy.
Am J Hum Genet. 1997
Jan;60(1):160-5.
Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C,
Ewen K, Slater HR.
Maternal uniparental isodisomy for chromosome 14 detected prenatally.
Prenat Diagn. 1999
Jul;19(7):681-4.
Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L,
Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A.
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
Clin Genet. 2006
Sep;70(3):207-13.
Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ,
Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with
Stargardt disease.
Mol Vis. 2007 Jan 26;13:96-101.
Roberson ED, Pevsner J.
Visualization of shared genomic regions and meiotic recombination in
high-density SNP data.
PLoS One. 2009 Aug
21;4(8):e6711.
Schinzel AA, Robinson WP, Binkert F, Torresani T, Werder EA.
Exclusively paternal X chromosomes in a girl with short stature.
Hum Genet. 1993 Sep;92(2):175-8.
Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S,
Knoblauch H, Horsthemke B, Schinzel AA.
Increased parental ages and uniparental disomy 15: a paternal age effect?
Eur J Hum Genet.
1993;1(4):280-6.
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F,
Balicek P, Haluza R, Farah LM, Lüleci G, Schinzel AA.
A somatic origin of homologous Robertsonian translocations and
isochromosomes.
Am J Hum Genet. 1994
Feb;54(2):290-302.
Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D.
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent
methylation sites and non-isotopic detection of (CA)n dinucleotide repeat
polymorphisms.
Am J Med Genet. 1994 Aug
1;52(1):79-84.
Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD,
Best RG, Howard-Peebles PN, Langlois S, Kalousek DK.
Meiotic origin of trisomy in confined placental mosaicism is correlated with
presence of fetal uniparental disomy, high levels of trisomy in trophoblast,
and increased risk of fetal intrauterine growth restriction.
Am J Hum Genet. 1997
Apr;60(4):917-27.
Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S,
Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE,
Robinson WP.
Comparison of phenotype in uniparental disomy and deletion Prader-Willi
syndrome: sex specific differences.
Am J Med Genet. 1996 Oct
16;65(2):133-6.
Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer
S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH.
Somatic segregation errors predominantly contribute to the gain or loss of a
paternal chromosome leading to uniparental disomy for chromosome 15.
Clin Genet. 2000
May;57(5):349-58.
Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E,
Horsthemke B.
Genotype-phenotype correlation in a series of 167 deletion and non-deletion
patients with Prader-Willi syndrome.
Hum Genet. 1995
Dec;96(6):638-43.
Butler MG.
Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and
molecular genetic data including parent of origin dependent methylation DNA
patterns.
Am J Med Genet. 1996 Jan
11;61(2):188-90.
Rogan PK, Sabol DW, Punnett HH.
Maternal uniparental disomy of chromosome 21 in a normal child.
Am J Med Genet. 1999 Mar
5;83(1):69-71.
Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F,
Maggi F, Simoni G.
Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo
heterologous Robertsonian translocations.
Prenat Diagn. 2004 Dec
15;24(12):997-1000.
Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni
A, Larizza L.
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1
biallelic expression.
Clin Dysmorphol. 2000
Jul;9(3):157-62.
Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N.
Uniparental disomy and imprinting defects in Japanese patients with Angelman
syndrome.
Brain Dev. 2005
Aug;27(5):389-91.
Salafsky IS, MacGregor SN, Claussen U, von Eggeling F.
Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.
Prenat Diagn. 2001
Oct;21(10):860-3.
Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou
S, Mavrou A.
Complex rearrangements of chromosome 15 in two patients with mild/atypical
Prader Willi syndrome.
Genet Couns. 2008;19(2):219-24.
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S,
Munnich A, Vekemans M, Morichon-Delvallez N.
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism
and clinical follow up.
J Med Genet. 2000
Jul;37(7):525-8.
Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP.
Maternal uniparental disomy 22 has no impact on the phenotype.
Am J Hum Genet. 1994
Jan;54(1):21-4.
Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert
F, Baumer A, Ausserer B.
Trisomy first, translocation second, uniparental disomy and partial trisomy
third: a new mechanism for complex chromosomal aneuploidy.
Eur J Hum Genet. 1997
Sep-Oct;5(5):308-14.
Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG.
Comprehensive 4-year follow-up on a case of maternal heterodisomy for
chromosome 16.
Am J Med Genet. 1996 Dec
11;66(2):204-8.
Schollen E, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G.
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal
isodisomy UPD3(q21.3-qter).
Eur J Med Genet. 2005
Apr-Jun;48(2):153-8.
Sellner LN, Price PJ.
Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in
a female.
Br J Haematol. 2005
Nov;131(3):410-1.
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D.
Uniparental disomy in fetuses diagnosed with balanced Robertsonian
translocations: risk estimate.
Prenat Diagn. 2002
Aug;22(8):649-51.
Sirchia SM, De Andreis C, Pariani S, Grimoldi MG, Molinari A, Buscaglia M,
Simoni G.
Chromosome 14 maternal uniparental disomy in the euploid cell line of a
fetus with mosaic 46,XX/47,XX,+14 karyotype.
Hum Genet. 1994 Oct;94(4):355-8.
Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft
FM, Temple IK, Ellard S.
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a
patient with permanent neonatal diabetes and hemihypertrophy.
Diabetes. 2008 Jan;57(1):255-8.
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM.
Maternal uniparental disomy of chromosome 13 in a phenotypically normal
child.
J Med Genet. 1994
Aug;31(8):644-6.
Slater H, Shaw JH, Bankier A, Forrest SM, Dawson G.
UPD 13: no indication of maternal or paternal imprinting of genes on
chromosome 13.
J Med Genet. 1995 Jun;32(6):493.
Slater HR, Vaux C, Pertile M, Burgess T, Petrovic V.
Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation
analysis--uniparental disomy and the significance of residual trisomy 15.
Prenat Diagn. 1997
Feb;17(2):109-13.
Slater HR, Ralph A, Daniel A, Worthington S, Roberts C.
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally
and the related problem of residual trisomy.
Prenat Diagn. 2000
Nov;20(11):930-2.
Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher
ER.
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
J Med Genet. 1994
Oct;31(10):749-53.
Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T,
Trent RJ.
Fluorescence in-situ hybridisation and molecular studies used in the
characterisation of a Robertsonian translocation (13q15q) in Prader-Willi
syndrome.
Clin Genet. 1993 Jan;43(1):5-8.
Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez D, Ballesta F.
Paternal isodisomy 13 in a normal newborn infant after trisomy rescue
evidenced by prenatal diagnosis.
Am J Med Genet. 2000 Feb
14;90(4):291-3.
Sonnappa S, Prescott K, Adler B, Dinwiddie R, Wallis C.
Cystic fibrosis and Russell-Silver syndrome in a child with maternal
isodisomy of chromosome 7.
Pediatr Pulmonol. 2005
Aug;40(2):166-8.
Soong YK, Wang TH, Lee YS, Chen CP, Chang CL, Ho SY, Chao AS, Cheng PJ,
Chang SD.
Genome-wide detection of uniparental disomy in a fetus with intrauterine
growth restriction using genotyping microarrays.
Taiwan J Obstet Gynecol. 2009
Jun;48(2):152-8.
Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, Tenchini
ML.
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4
containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene.
Eur J Hum Genet. 2004
Nov;12(11):891-8.
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik
JF, Pollack MS, O'Brien WE, Beaudet AL.
Uniparental disomy as a mechanism for human genetic disease.
Am J Hum Genet. 1988
Feb;42(2):217-26.
Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M.
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein
deficiency due to homozygous alpha-subunit mutations.
Hum Mutat. 2002
Dec;20(6):447-51.
Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N,
Rosenfield RL.
Intrauterine growth retardation associated with maternal uniparental disomy
for chromosome 6 unmasked by congenital adrenal hyperplasia.
Pediatr Res. 1999
Nov;46(5):510-3.
Stallard R, Krueger S, James RS, Schwartz S.
Uniparental isodisomy 13 in a normal female due to transmission of a
maternal t(13q13q).
Am J Med Genet. 1995 May
22;57(1):14-8.
Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N.
Paternal uniparental disomy of chromosome 14: confirmation of a
clinically-recognizable phenotype.
Am J Med Genet A. 2004 Sep
15;130A(1):88-91.
Stratakis CA, Taymans SE, Schteingart D, Haddad BR.
Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms:
implications for UPD and other genetic studies of chromosome 2.
J Med Genet. 2001
Feb;38(2):106-9.
Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, el-Rifai W, Ruuskanen O, de
la Chapelle A, Kaitila I.
Uniparental disomy in cartilage-hair hypoplasia.
Eur J Hum Genet. 1997
Jan-Feb;5(1):35-42.
Surh LC, Wang H, Hunter AG.
Deletion and uniparental disomy involving the same maternal chromosome 15.
N Engl J Med. 1994 Feb
24;330(8):572-3.
Takahashi I, Takahashi T, Utsunomiya M, Takada G, Koizumi A.
Long-acting gonadotropin-releasing hormone analogue treatment for central
precocious puberty in maternal uniparental disomy chromosome 14.
Tohoku J Exp Med. 2005
Dec;207(4):333-8.
Talseth-Palmer BA, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K,
Liebelt J, Bratkovic D, Haan E, Yu S, Scott RJ.
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a
complex translocation detected in children with abnormal phenotypes using
new SNP array technology.
Cytogenet Genome Res.
2009;124(1):94-101.
Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P.
Maternal uniparental disomy for chromosome 14.
J Med Genet. 1991
Aug;28(8):511-4.
Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE.
The impact of imprinting: Prader-Willi syndrome resulting from chromosome
translocation, recombination, and nondisjunction.
Am J Hum Genet. 1996
May;58(5):1008-16.
Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT,
Ruczinski I, Thomas GH, Pevsner J.
Visualization of uniparental inheritance, Mendelian inconsistencies,
deletions, and parent of origin effects in single nucleotide polymorphism
trio data with SNPtrio.
Hum Mutat. 2007
Dec;28(12):1225-35.
Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L,
Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O.
A rapid microarray based whole genome analysis for detection of uniparental
disomy.
Hum Mutat. 2005 Aug;26(2):153-9.
Bastepe M, Lane AH, Jüppner H.
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes
in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
Am J Hum Genet. 2001
May;68(5):1283-9.
Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire
V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M,
Carter NP, Munnich A, Colleaux L.
Genome-wide screening using automated fluorescent genotyping to detect
cryptic cytogenetic abnormalities in children with idiopathic syndromic
mental retardation.
Clin Genet. 2004
Aug;66(2):122-7.
Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi
M, Fried M.
Leigh syndrome transmitted by uniparental disomy of chromosome 9.
J Med Genet. 1999
Dec;36(12):927-8.
Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW, Whelan DT.
Maternal uniparental isodisomy of human chromosome 14 associated with a
paternal t(13q14q) and precocious puberty.
Eur J Hum Genet.
1996;4(3):153-9.
Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA.
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of
chromosome 4.
J Med Genet. 2001 Jun;38(6):E18.
Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN.
Robertsonian (15q;15q) translocation in a child with Angelman syndrome:
evidence of uniparental disomy.
Am J Med Genet. 1996 Dec
30;66(4):426-8.
Lin HY, Lin SP, Yen JL, Lee YJ, Huang CY, Hung HY, Hsu CH, Kao HA, Chang JH,
Chiu NC, Ho CS, Chao MC, Niu DM, Tsai LP, Kuo PL.
Prader-Willi syndrome in Taiwan.
Pediatr Int. 2007
Jun;49(3):375-9.
Tsai AC, Gibby T, Beischel L, McGavran L, Johnson JP.
A child with Angelman syndrome and trisomy 13 findings due to associated
paternal UPD 15 and segmental UPD 13.
Am J Med Genet A. 2004 Apr
15;126A(2):208-12.
Tsukishiro S, Li QY, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S.
Paternal uniparental disomy of chromosome 14 and unique exchange of
chromosome 7 in cases of spontaneous abortion.
J Hum Genet. 2005;50(3):112-7.
Valente KD, Fridman C, Varela MC, Koiffmann CP, Andrade JQ, Grossmann RM,
Kok F, Marques-Dias MJ.
Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy,
but has no influence on EEG patterns.
Epilepsy Res. 2005
Dec;67(3):163-8.
van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A,
Geraedts J.
Uniparental maternal disomy 6 in a renal transplant patient.
Hum Immunol. 1996
Jan;45(1):46-51.
Van den Berg C, Ramlakhan SK, Van Opstal D, Brandenburg H, Halley DJ, Los FJ.
Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies.
Prenat Diagn. 1997
Oct;17(10):933-40.
van Riesen AK, Antonicka H, Ohlenbusch A, Shoubridge EA, Wilichowski EK.
Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase
deficiency caused by homozygous SURF1 mutation.
Neuropediatrics. 2006
Apr;37(2):88-94.
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP.
Impact of molecular mechanisms, including deletion size, on Prader-Willi
syndrome phenotype: study of 75 patients.
Clin Genet. 2005
Jan;67(1):47-52.
Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H,
Neitzel H, Sperling K, Kroisel PM.
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Am J Med Genet A. 2007 Jan
1;143(1):92-4.
Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Monroy S, Martínez-Cruz
V, Todd-Quiñones C, González-Del Angel A.
Low allelic heterogeneity in a sample of Mexican patients with classical
galactosaemia.
J Inherit Metab Dis. 2008 Oct
29.
Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M,
Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E,
Petersen MB.
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism:
clinical, cytogenetic and molecular analysis.
Eur J Hum Genet. 2002
Nov;10(11):694-8.
Vogels A, Matthijs G, Legius E, Devriendt K, Fryns JP.
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi
syndrome.
J Med Genet. 2003
Jan;40(1):72-3.
Walter CA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill C, McFarland
MB, Moore CM.
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with
paternal isodisomy 14: 45,XY,idic(14)(p11).
Am J Med Genet. 1996 Nov
11;65(4):259-65.
Wand D, Glaser C, Brun-Heath I,
Thiele H, Hermann A, Musil A, Hansmann I, Mornet E.
Hypophosphatasia and homozygosity for a parental heterozygous G403S TNSALP
mutation due to segmental paternal isodisomy for chromosome 1p.
Abstracts of the ASHG meeting 2004; Abstractno. 593.
Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK.
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal
familial balanced 13/14 Robertsonian translocation carrier.
Am J Hum Genet. 1991
Jun;48(6):1069-74.
Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT.
Centromeric DNA break in a 10;16 reciprocal translocation associated with
trisomy 16 confined placental mosaicism and maternal uniparental disomy for
chromosome 16.
Am J Med Genet. 1998 Dec
4;80(4):418-22.
Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y.
Two novel gap junction protein alpha 12 gene mutations in two Chinese
patients with Pelizaeus-Merzbacher-like disease.
Brain Dev. 2010
Mar;32(3):236-43.
Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J,
Yanatatsaneejit P, Rattanatanyong P, Munkongdee T, Fucharoen S, Mutirangura
A.
Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's
hydrops fetalis.
Clin Genet. 2008
Sep;74(3):284-7.
Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J.
A case of paternal uniparental disomy for chromosome 11.
Prenat Diagn. 1995
Aug;15(8):773-7.
Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J.
Maternal uniparental disomy for chromosome 2 in association with confined
placental mosaicism for trisomy 2 and severe intrauterine growth
retardation.
Prenat Diagn. 1996
Oct;16(10):958-62.
Webb T, Maina EN, Soni S, Whittington J, Boer H, Clarke D, Holland A.
In search of the psychosis gene in people with Prader-Willi syndrome.
Am J Med Genet A. 2008 Apr
1;146(7):843-53.
Wegener R, Weirich V, Dauber EM, Mayr WR.
Mother-child exclusion due to paternal uniparental disomy 6.
Int J Legal Med. 2006
Sep;120(5):282-5.
Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA.
Uniparental isodisomy 6 associated with deficiency of the fourth component
of complement.
J Clin Invest. 1990
Aug;86(2):675-8.
Wenda S, Dauber EM, Schwartz DW, Jungbauer C, Weirich V, Wegener R, Mayr WR.
ACTBP2 (alias ACTBP8) is localized on chromosome 6 (band 6q14).
Forensic Sci Int. 2005 Mar
10;148(2-3):207-9.
Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ,
Tolmie JL.
Paternal uniparental disomy for chromosome 6 causes transient neonatal
diabetes.
J Med Genet. 1997
Feb;34(2):167-8.
Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK.
A case of maternal uniparental disomy of chromosome 9 in association with
confined placental mosaicism for trisomy 9.
Prenat Diagn. 1996
Apr;16(4):371-4.
Willatt LR, Davison BC, Goudie D, Alexander J, Dyson HM, Jenks PE,
Ferguson-Smith ME.
A male with trisomy 9 mosaicism and maternal uniparental disomy for
chromosome 9 in the euploid cell line.
J Med Genet. 1992
Oct;29(10):742-4
Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E.
The clinical phenotype of mosaicism for genome-wide paternal uniparental
disomy: two new reports.
Am J Med Genet A. 2008 Jan
15;146A(2):137-48.
Weise A, Gross M, Mrasek K, Mkrtchyan H, Horsthemke B, Jonsrud C, Von
Eggeling F, Hinreiner S, Witthuhn V, Claussen U, Liehr T.
Parental-origin-determination fluorescence in situ hybridization
distinguishes homologous human chromosomes on a single-cell level.
Int J Mol Med. 2008
Feb;21(2):189-200.
Wiszniewski W, Lewis RA, Lupski JR.
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect
and is responsible for the visual phenotype in the original report of
uniparental disomy 14.
Hum Genet. 2007
May;121(3-4):433-9.
Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA.
Maternal uniparental heterodisomy for chromosome 2: detection through
'atypical' maternal AFP/hCG levels, with an update on a previous case.
Prenat Diagn. 2001
Oct;21(10):813-7.
Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM,
Graham D, Rogan PK, Seip JR, Smith A,.
Bloom syndrome and maternal uniparental disomy for chromosome 15.
Am J Hum Genet. 1994
Jul;55(1):74-80.
Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW.
Paternal uniparental isodisomy of the entire chromosome 3 revealed in a
person with no apparent phenotypic disorders.
Hum Mutat. 2006 Feb;27(2):133-7.
Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.
Placental hypoplasia in maternal uniparental disomy for chromosome 7.
Am J Med Genet A. 2008 Feb
15;146A(4):514-6.
Yan D, Ouyang XM, Angeli SI, Du LL, Liu XZ.
Paternal uniparental disomy of chromosome 13 causing homozygous 35delG
mutation of the GJB2 gene and hearing loss.
Am J Med Genet A. 2007 Feb
15;143(4):385-6.
Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H.
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q
containing an intron 9 splice acceptor mutation in the microsomal
triglyceride transfer protein gene.
Arterioscler Thromb Vasc Biol.
1999 Aug;19(8):1950-5.
Zhang YW, Jia HY, Hong J, Ge Y, Zhang HJ, Shen CF, Ye L, Cui B, Li XY, Gu WQ,
Zhang YF, Wang WQ, Ning G.
Clinical and genetic analysis for four Chinese families with Prader-Willi
syndrome.
Endocrine. 2009 Aug;36(1):37-44.
Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B.
Intracytoplasmic sperm injection may increase the risk of imprinting
defects.
Am J Hum Genet. 2002
Jul;71(1):162-4.
Martin RA, Sabol DW, Rogan PK.
Maternal uniparental disomy of chromosome 14 confined to an interstitial
segment (14q23-14q24.2).
J Med Genet. 1999
Aug;36(8):633-6.
Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis MO, Stehelin D,
Turleau C, de Grouchy J.
Maternal origin of a de novo balanced t(21q21q) identified by ets-2
polymorphism.
Hum Genet. 1987 Aug;76(4):396-8.
Vidaud D, Vidaud M, Plassa F,
Gazengel C, Noel B, Goossens B.
Grundy P, Telzerow P, Paterson MC, Haber D, Berman B, Li F, Garber J.
Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms.
Lancet. 1991 Oct
26;338(8774):1079-80.
Bennett P, Vaughan J, Henderson D, Loughna S, Moore G.
Association between confined placental trisomy, fetal uniparental disomy,
and early intrauterine growth retardation.
Lancet. 1992 Nov
21;340(8830):1284-5.
N'go KY, Lee J, Dixon B, Liu D,
Jones OW.
Paternal uniparental iso-disomy in a hydrops fetalis, alpha-thalassemia
fetus.
Am J Hum Genet 1993; 53: A1207.
Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S,
Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, et al.
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
Am J Hum Genet. 1994
Mar;54(3):482-8.
Miny P, Koppers B, Bogadanova N,
Schulte-VAllentin M, Horst J, Dworniczak B.
Paternal uniparental disomy 22.
Am J Med Genet 1995; 7: 216.
Hehr U, Dörr S, Hagemann M, Hansmann I, Preiss U, Brömme S.
Silver-Russell syndrome and cystic fibrosis associated with maternal
uniparental disomy 7.
Am J Med Genet. 2000 Mar
20;91(3):237-9.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR,
Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB,
Boehnke M, Glover TW, Collins FS.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford
progeria syndrome.
Nature. 2003 May
15;423(6937):293-8.
Kotzot D, Röthlisberger B, Riegel M, Schinzel A.
Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally
retarded female with partial trisomy mosaicism 11q13qter.
J Med Genet. 2001
Dec;38(12):876-81.
Towner D, Yang SP, Shaffer LG.
Prenatal ultrasound findings in a fetus with paternal uniparental disomy
14q12-qter.
Ultrasound Obstet Gynecol. 2001
Sep;18(3):268-71.
de Ravel TJ, Matthijs G, Fryns J.
An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21
associated with maternal isodisomy 18pter-->18q12.2.
Ann Genet. 2001
Apr-Jun;44(2):63-6.
Carpenter NJ, Say B, Barber ND.
A homozygote for pericentric inversion of chromosome 4.
J Med Genet. 1982
Dec;19(6):469-71.
Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N.
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype
analyses of 50 patients.
Am J Med Genet. 1991 Oct
1;41(1):54-63.
Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PR, Duffy B,
Johnston H, Leigh D, McDonald B.
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.
Am J Hum Genet. 1992
Jun;50(6):1348-50.
Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey
S.
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for
heterogeneity.
Am J Hum Genet. 1996
Oct;59(4):855-63.
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V,
Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S,
Vekemans M, Munnich A, Colleaux L.
Automated fluorescent genotyping detects 10% of cryptic subtelomeric
rearrangements in idiopathic syndromic mental retardation.
J Med Genet. 2002
Apr;39(4):266-70.
Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH,
van Oost BA.
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a
translocation between chromosomes 6 and 15.
N Engl J Med. 1992 Mar
19;326(12):807-11.
Smith A, Deng ZM, Beran R, Woodage T, Trent RJ.
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy
in Angelman syndrome.
Hum Genet. 1994 Apr;93(4):471-3.
Woodage T, Deng ZM, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter
DH, Robson L, Smith A, Trent RJ.
A variety of genetic mechanisms are associated with the Prader-Willi
syndrome.
Am J Med Genet. 1994 Sep
15;54(3):219-26.
Kotzot D, Holland H, Keller E, Froster UG.
Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth
retardation.
Am J Med Genet. 2001 Aug
1;102(2):169-72.
Järvelä I, Savukoski M, Ammälä P, von Koskull H.
Prenatally detected paternal uniparental chromosome 13 isodisomy.
Prenat Diagn. 1998
Nov;18(11):1169-73.
Freund M, Dahan K, Liebaers I,
Hubimont C, Verellen-Dumoulin C.
Prenatal diagnosis of the Prader-Willi syndrome through a 15;15
isochromosome and maternal disomy.
Europ J Hum 2000, 8 (Suppl. 1): P109.
Guitart M, Escudero T, Gabau E,
Dorminguez MC, Jimenez MD, Mila M, Coll MD.
Two new cases of Angelman syndrome with a balanced 15;15 translocation and
paternal uniparental disomy.
Cytogenet Cell Genet 1997; 77 (Suppl ): P227.
Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J.
A case of Angelman syndrome arising as a result of a de novo Robertsonian
translocation.
Acta Genet Med Gemellol (Roma).
1996;45(1-2):255-61.
Turleau C, Viot G, Burglen L,
Caillez D, Layet V, Chauveau P, Faivre L, Morichon N, Delezoide AL, Prieur
M, Munnich A, Vekemans M.
Uniparental disomy of chromosome 8 due to pseudodicentric chromosome:
possible mechanism and consequences.
Am J Hum Genet. 1998, 63: A153 (abstract 865)
Christian SL,
Mills P, Das D, Ledbetter DH.
High risk of uniparental disomy 15 associated with amniotic fluid
containing de novo small supernumerary marker 15 chromosomes.
Am J Hum Genet. 1998, 63: A11 (abstract 52).
Ebrahim SAD, Feldman B, Knaus A, Gyi K, Mills PL,
Johnson MP, Evans MI.
Prenatal diagnosis of maternal uniparental disomy of chromsome 15 in
association with de novo supernumerary marker chromosome 15.
Am J Hum Genet. 1998, 63: A162 (abstract 916).
Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H.
Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1
segregation, and maternal heterodisomy of chromosome 22.
J Med Genet. 1996
Nov;33(11):952-6.
Haag MM, Beischel LS, McCann CL,
Reynolds JF, Phillips SM, Tunby ML, Hansen JC, Johnson JP.
Molecular rescue by mititic recombination as an explanation for
recurrence of 11q- Jacobsen syndrome in two brothers.
Am J Hum Genet. 2001, 69: 586 (abstract 2382).
Giunti L, Lapi E, Guarducci S,
Ricci U, Cecconi A, Andreucci E, Ottavianai M, Uzielli MLG.
Maternal heterodisomy for chromosome 14 and 13/14 Robertsonian
translocation in a female with normal mental development, short stature and
dysmorphic features.
Europ J Hum Genet 2002, 10 (Suppl 1): P0214.
Krabchi K, Ferland M, Halal F,
Russel L, Duncan AMV, Drouin R.
unusual clinical features observed in a young girl having an
inherited maternal translocation (13;14) with a mixed maternal uniparental
hetero and isodisomy.
Am J Hum Genet. 2005, 77(Suppl. 1): abstract 843.
Rocha MG, Pinto-Basto J, Garcia E,
Reis Lima M, Pinto M, Fortuna A.
Maternal uniparental disomy of chromosome [mUPD(14)] in a boy with
rob(13;14)mat.
Europ J Hum Genet 2006: 14(Suppl.1):139 (abstract P0182).
Worley KA, Rundus VR, Lee EB,
Hannig VL, Hedges LK, Tsuchiya K, Phillips III JA.
Maternal uniparental disomy 14 presenting as language delay.
Am J Hum Genet. 2001, 69(Suppl. 1): abstract 738.
Yano S, Li L, Owen S, Wu S, Tran T.
A further delineation of the paternal uniparental disomy (UPD) 14:
The fifth reported case.
Am J Hum Genet. 2001, 69(Suppl. 1): abstract 739.
Stucke-Sontheimer A, Chaoui R,
unger M, Ramel C, von Eggeling F, Thiel G, Hoeltzenbein M.
Fetal left isomerism (polysplenia) and maternal uniparental isodisomy
14: evidence for a recessive gene for heterotaxia on chromosome 14?
Medgen 2007; 18:68 (abstract P022).
Kron A, Trübenbach J, Liehr T, Decker J, Steinberger D.
Characterization of a prenatally diagnosed de novo small supernumerary marker
harbouring material of chromosome 16.
MedGen 2007, Vol. 19, pp 85-86 (Abstractnr.P089).
Bartsch O, Rasi S, Hoffmann K, Blin N.
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically
relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
Eur J Hum Genet.
2005 Mar 9; 13(5): 592-599.
Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G.
Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples:
chromosomal distribution, clinical findings, and UPD studies.
Eur J Hum Genet.
2005; 13(11):1192-204.
Bryke CR, Garber T, Israel J.
Evolution of a complex phenotype in a unique patient with a paternal
uniparental disomy for every chromosome cell line and a normal biparental
inheritance cell line.
Am J Hum Genet. 2004, 75(Suppl. 1): abstract 831.
Yamanaka M, Ishikawa H, Saito K, Maruyama Y, Ozawa K, Shibasaki J, Nishimura
G, Kurosawa K.
Prenatal findings of paternal uniparental disomy 14: Report of four
patients.
Am J Med Genet A. 2010
Mar;152A(3):789-91.
Ozawa K, Ishikawa H, Maruyama Y,
Nagata T, Nagase H, Furuya N, Yoshihashi H, Kurosawa K, Shibazaki J,
Yamanaka M.
A case of prenatally suspected as paternal uniparental disomy 14.
Jpn J Genet Counsel 2009, 30:19-22.
Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T,
Matsuo M, Imaizumi K, Kuroki Y, Nishimura G.
Paternal UPD14 is responsible for a distinctive malformation complex.
Am J Med Genet. 2002 Jul
1;110(3):268-72.
Manzoni MF, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo
R.
A patient with maternal chromosome 14 UPD presenting with a mild phenotype
and MODY.
Clin Genet. 2000
May;57(5):406-8.
Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N.
Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients
previously diagnosed erroneously as cytogenetic deletions.
Am J Med Genet. 1994 Mar
1;50(1):64-7.
Niikawa N, Ishikiriyama S.
Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of
phenotype-karyotype correlation.
Hum Genet. 1985;69(1):22-7.
Fridman C, Varela MC, Nicholls RD, Koiffmann CP.
Unusual clinical features in an Angelman syndrome patient with uniparental
disomy due to a translocation 15q15q.
Clin Genet. 1998
Oct;54(4):303-8.
Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi
T, Nakahata T.
Parental origin of normal X chromosomes in Turner syndrome patients with
various karyotypes: implications for the mechanism leading to generation of
a 45,X karyotype.
Am J Med Genet. 2002 Aug
1;111(2):134-9.
Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ.
Netherton syndrome: mutation analysis of two Taiwanese families.
Arch Dermatol Res. 2007
Jun;299(3):145-50.
Seal JL, Gornick MC, Gogtay N, Shaw P, Greenstein DK, Coffey M, Gochman PA,
Stromberg T, Chen Z, Merriman B, Nelson SF, Brooks J, Arepalli S, Wavrant-De
Vrièze F, Hardy J, Rapoport JL, Addington AM.
Segmental uniparental isodisomy on 5q32-qter in a patient with
childhood-onset schizophrenia.
J Med Genet. 2006
Nov;43(11):887-92.
Zühlke CH, Spranger M, Spranger S, Voigt R, Lanz M, Gehlken U, Hinrichs F,
Schwinger E.
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy
6.
Eur J Hum Genet. 2003
Aug;11(8):629-32.
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala
E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S,
Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M,
Dagna-Bricarelli F, Calzolari E.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy
(UPD) risk: an Italian multicentric prenatal survey.
Prenat Diagn. 2004
Aug;24(8):647-52.
Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel
JL.
Difficulties of genetic counseling and prenatal diagnosis in a
consanguineous couple segregating for the same translocation (14;15)
(q11;q13) and at risk for Prader-Willi and Angelman syndromes.
Eur J Hum Genet. 2004
Mar;12(3):181-6.
Gutkowska A, Tylki-Szymańska A, Popowska E, Bielińska B, Jurkiewicz D,
Krajewska-Walasek M.
A case described as translocation 15;15 revised: maternal 15 UPD, resulting
from isochromosome 15, in a PWS patient.
Eur J Med Genet. 2005
Apr-Jun;48(2):207-9.
Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A.
Initial maternal meiotic I error leading to the formation of a maternal
i(2q) and a paternal i(2p) in a healthy male.
Cytogenet Genome Res.
2007;118(1):38-41.
Saitoh S, Hosoki K, Takano K, Tonoki H.
Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi
syndrome phenotype with uniparental disomy.
Clin Genet. 2007
Oct;72(4):378-80.
Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
A novel MSP/DHPLC method for the investigation of the methylation status of
imprinted genes enables the molecular detection of low cell mosaicisms.
Hum Mutat. 2001
May;17(5):423-30.
Valerio G, Franzese A, Palmieri A, Mackay DJ, Gardner RJ, Temple IK.
Central precocious puberty in a girl with triple X syndrome and neonatal
diabetes mellitus associated with paternal isodisomy of chromosome 6.
J Pediatr Endocrinol Metab. 2001
Jul-Aug;14(7):897-900.
Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati
G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert
F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P.
Congenital hyperinsulinism and mosaic abnormalities of the ploidy.
J Med Genet. 2006
Mar;43(3):248-54.
Surti U, Hoffner L, Kolthoff M, Dunn J, Hunt J, Sniezek L, Macpherson T.
Persistent gestational trophoblastic disease after an androgenetic/biparental
fetal chimera: a case report and review.
Int J Gynecol Pathol. 2006
Oct;25(4):366-72.
Engel E.
A new genetic concept: uniparental disomy and its potential effect,
isodisomy.
Am J Med Genet.
1980;6(2):137-43.
Shuman C, Weksberg
R, Nedelcu R, Northey A, Scherer S.
Chromosome 7 uniparental disomy in Silver-Russell syndrome.
Am JHum Genet 1996, 59(Suppl):1648.
Dupont JM, Cuisset
L, Le Tessier D, Vasseur C, Re´can D, Cartigny M, Despert F, Bougne`re P,
Jeanpierre M, Rabineau D.
Cytogenetic and molecular studies in 32 Silver Russell syndrome
patients (SRS).
Eur J Hum Genet 1998; 6 (Suppl 1):2–113.
European Collaborative Research on Mosaicism in CVS (EUCROMIC).
Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD:
Prenat Diagn. 1999
Jan;19(1):29-35.
Jay AM, Roberts E, Davies T, Barnes I, Curtis M, Healey K, Davison EV.
Prenatal testing for uniparental disomy (UPD).
Prenat Diagn. 2001
Jun;21(6):513.
Pereira CR, Kennedy DL, Maktam E,
Rezaie A, Skuterud M, Steer J, Tzountzouris JP, Allingham-Hawkins DJ.
Uniparental disomy testing in a clinical setting.
Am J Hum Genet 2000, 67(Suppl 2):1927.
Sánchez JM, Moya G.
Adding another "hatched pink" chromosome.
Genet Med. 2002 Mar-Apr;4(2):95.
Félix TM, Tansey MJ, Patil SR, Murray JC, Dagle JM.
Double paternal nondisjunction in an infant with transient neonatal diabetes
mellitus and Klinefelter syndrome.
Am J Med Genet A. 2007 Apr
15;143A(8):895-8.
Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J,
Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L,
Lyonnet S, Abel L, Ruga EM, Casanova JL.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome
including complete IFN-gamma receptor 1 deficiency.
Am J Med Genet A. 2010
Mar;152A(3):622-9.
Aviram R, Kidron D, Silverstein S, Lerer I, Abeliovich D, Tepper R, Dolfin
Z, Markovitch O, Arnon S.
Placental mesenchymal dysplasia associated with transient neonatal diabetes
mellitus and paternal UPD6.
Placenta. 2008 Jul;29(7):646-9.
Papenhausen PR, Tepperberg JH,
Mowrey PN, Gadi IK, Shah HO, Sherman J, Pulijaal V, Nitowsky H, Sachs G, Lin
JH.
UPD risk assessment: three cytogenetic subgroups.
Am J Hum Genet 1999, 65: A353 (abstract 1996).
Makrydimas G, Sebire NJ, Thornton SE, Zagorianakou N, Lolis D, Fisher RA.
Complete hydatidiform mole and normal live birth: a novel case of confined
placental mosaicism: case report.
Hum Reprod. 2002
Sep;17(9):2459-63.
Surti U, Hill LM, Dunn J, Prosen T, Hoffner L.
Twin pregnancy with a chimeric androgenetic and biparental placenta in one
twin displaying placental mesenchymal dysplasia phenotype.
Prenat Diagn. 2005
Nov;25(11):1048-56.
Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF,
Lefebvre L, Rao KW, Robinson WP.
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.
J Med Genet. 2006
Feb;43(2):187-92.
Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE.
Origin and outcome of pregnancies affected by androgenetic/biparental
chimerism.
Hum Reprod. 2007
Apr;22(4):1114-22.
Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper
BJ, Fantes J, Zori RT, Driscoll DJ.
Lack of X inactivation associated with maternal X isodisomy: evidence for a
counting mechanism prior to X inactivation during human embryogenesis.
Am J Hum Genet. 1996
Jan;58(1):161-70.
Neiswanger K, Hohler PM, Hively-Thomas LB, McPherson EW, Hogge WA, Surti U.
Variable outcomes in mosaic trisomy 16: five case reports and literature
analysis.
Prenat Diagn. 2006
May;26(5):454-61.
Mutter GL.
Role of imprinting in abnormal human development.
Mutat Res. 1997 Dec
12;396(1-2):141-7.
Coullin P.
[From human andro- and parthenogenesis (hydatidiform moles and benign
ovarian teratomas) to cancer]
Gynecol Obstet Fertil. 2005
Jul-Aug;33(7-8):469-82.
Amor DJ, Halliday J.
A review of known imprinting syndromes and their association with assisted
reproduction technologies.
Hum Reprod. 2008
Dec;23(12):2826-34.
Betz A, Turleau C, de Grouchy J.
[Heterozygosity and homozygosity for a pericentric inversion of human
chromosome 3]
Ann Genet. 1974 Jun;17(2):79-80.
Obersztyn E,
Helias-Rodzewicz Z, Sobcynska-Tomaszewska A, Bocian E, Mazurczak T.
Maternal UPD7 in the case of cystic fibrosis.
Europ J Hum Genet 2002, 10 (Suppl 1):P0286.
Ravine D,
Lazarou LP, Fisher PJ, Doull IJM, Mac Donald M, Thompson PW, Gill H,
Meredith AL, Clarke A, Little E.
Uniparental disomy, molecular and social difficulties in
interpretation.
J Med Genet 2000; 37 (Suppl):4.37.
Van der Hagen CB,
Eiklid K, Orstavik KH, Braaten O, Prescott T, Kroken M, Husby H, Helbig A,
Solberg R.
Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental
disomy 9 in the child.
Europ J Hum Genet 2003; 11(Suppl):P409.
Kaiser-Rogers KA,
Robinson WP, Knops JF, Vargo D, Livasy CA, Bailit J, Rao KW.
A rare mosaicism for paternal UPD 9 in a dizygotic twin pregnancy.
Am J Hum Genet 2002, 71(Suppl 4):782.
Kousseff BG,
Gallardo LA, Mueller OT.
Unusual clinical presentation associated with uniparental disomy of
chromosome 10 in a child presymptomatic for multiple endocrine neoplasia
type 2A.
Am J Hum Genet
1992, 51(Suppl):863.
Blayau M. Odent S,
Dubourg C, Dabadie A, David V.
Alpha 1-antitrypsin deficiency due to maternal uniparental disomy for
chromosome 14.
Europ J Hum Genet 2002; 10 (Suppl 1):P0974.
Duba H, Silye R,
Hayba¨ck J, Janecke A, Gu¨nther B, Arzt W.
Maternal isodisomy 22 in a fetus with malformations.
Europ J Hum Genet 2003; 11(Suppl):P416.
Desilets VA, Yong
SL, Langlois S, Wilson RD, Kalousek DK, Pantzar TJ.
Trisomy 22 mosaicism and maternal uniparental disomy.
Am J Hum Genet 1996; 59(Suppl):1859.
Crowe CA, Schwartz S, Black CJ, Jaswaney V.
Mosaic trisomy 22: a case presentation and literature review of trisomy 22
phenotypes.
Am J Med Genet. 1997 Sep
5;71(4):406-13.
Bulli C, Battistella PA, Bordignon M, Bramanti P, Novelli G, Sangiuolo F.
Recessive congenital myotonia resulting from maternal isodisomy of
chromosome 7: a case report.
Cases J. 2009 Apr 29;2:7111.
Lecumberri B, Fernandez-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A,
Pallardo LF, Jimenez Bustos JM, Castano L, De Santiago M, Hiort O, Perez de
Nanclares G, Bastepe M.
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib)
in the same kindred with independent Gs{alpha} coding mutations and GNAS
imprinting defects.
J Med Genet. 2009 Nov 4. [Epub
ahead of print]
López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J.
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation
and paternal isodisomy of chromosome 2.
Clin Genet. 2009
Dec;76(6):552-7.
Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel LK, Trifiro
MA, Van Vliet G.
Molecular studies of a patient with complete androgen insensitivity and a
47,XXY karyotype.
J Pediatr. 2009
Sep;155(3):439-43.
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B,
McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM,
Kulkarni S, Cole FS.
Inherited surfactant deficiency caused by uniparental disomy of rare
mutations in the surfactant protein-B and ATP binding cassette, subfamily a,
member 3 genes.
J Pediatr. 2009
Dec;155(6):854-859.e1.
Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H,
Tuncbilek E, Liehr T.
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to
8p12 including maternal isodisomy of 8p23.3: a case report.
Mol Cytogenet. 2009 Jun 30;2:14.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ,
Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.
Incidence of neonatal diabetes in Austria-calculation based on the Austrian
Diabetes Register.
Pediatr Diabetes. 2009 Jun 3. [Epub
ahead of print]
Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S,
Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E,
Bassi MT.
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis
(LINCL) reveals aspects of CLN8 neurobiological function.
Hum Mutat. 2009
Jul;30(7):1104-16.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva
DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano
V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM,
van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab
A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M,
Munnich A, Cormier-Daire V.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Eur J Hum Genet. 2009
Mar;17(3):395-400.
Callahan N, Modesto A, Deeley K, Meira R, Vieira AR.
Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and
evidence of segmental uniparental isodisomy.
Eur J Oral Sci. 2009
Feb;117(1):20-6.
Schimmel U.
Long-standing sulfonylurea therapy after pubertal relapse of neonatal
diabetes in a case of uniparental paternal isodisomy of chromosome 6.
Diabetes Care. 2009
Jan;32(1):e9.
Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse
M, Gläser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U,
Marahrens Y, Lupski JR, Hansmann I.
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2)
translocation.
Am J Med Genet A. 2006 Mar
1;140(5):442-52.
Chang JG, Tsai WC, Chong IW, Chang CS, Lin CC, Liu TC.
{beta}-thalassemia major evolution from {beta}-thalassemia minor is
associated with paternal uniparental isodisomy of chromosome 11p15.
Haematologica. 2008
Jun;93(6):913-6.
Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I,
Castiglia D.
Complete maternal isodisomy causing reduction to homozygosity for a novel
LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
J Dermatol Sci. 2008
Jul;51(1):58-61.
Yamada T, Matsuda T, Kudo M, Yamada T, Moriwaki M, Nishi S, Ebina Y, Yamada
H, Kato H, Ito T, Wake N, Sakuragi N, Minakami H.
Complete hydatidiform mole with coexisting dichorionic diamniotic twins
following testicular sperm extraction and intracytoplasmic sperm injection.
J Obstet Gynaecol Res. 2008
Feb;34(1):121-4.
Stone EM.
Leber congenital amaurosis - a model for efficient genetic testing of
heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Am J Ophthalmol. 2007
Dec;144(6):791-811.
Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali
LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George
A, Crosby AH.
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia
(Raine syndrome), highlighting a crucial molecule in bone development.
Am J Hum Genet. 2007
Nov;81(5):906-12.
Yellore VS, Sonmez B, Chen MC, Rayner SA, Thonar EJ, Aldave AJ.
An unusual presentation of macular corneal dystrophy associated with
uniparental isodisomy and a novel Leu173Pro mutation.
Ophthalmic Genet. 2007
Sep;28(3):169-74.
Hon KL, Burd A, Choi PC, Luk NM.
Epidermolysis bullosa in three Chinese neonates.
J Dermatolog Treat.
2007;18(5):306-11.
Goh DL, Zhou Y, Chong SS, Ngiam NS, Goh DY.
Novel CFTR gene mutation in a patient with CBAVD.
J Cyst Fibros. 2007 Nov
30;6(6):423-5.
Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J.
Analysis and visualization of chromosomal abnormalities in SNP data with
SNPscan.
BMC Bioinformatics. 2006 Jan
18;7:25.
Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory
JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B,
Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects
in the function of pancreatic beta-cell adenosine triphosphate-sensitive
potassium channels.
J Clin Endocrinol Metab. 2005
Jul;90(7):4376-82.
Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S,
Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H.
Epidermolysis bullosa simplex associated with pyloric atresia is a novel
clinical subtype caused by mutations in the plectin gene (PLEC1).
J Mol Diagn. 2005
Feb;7(1):28-35.
Latronico AC, Billerbeck AE, Pinto EM, Brazil D'Alva C, Arnhold IJ, Mendonca
BB.
Maternal isodisomy causing homozygosity for a dominant activating mutation
of the luteinizing hormone receptor gene in a boy with familial male-limited
precocious puberty.
Clin Endocrinol (Oxf). 2003
Oct;59(4):533-4.
Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P,
Polak M; NDM French Study Group. Neonatal diabetes mellitus.
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent
cases.
J Pediatr. 2002
Oct;141(4):483-9.
Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL,
Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving
PA, Gal A.
Genetics and phenotypes of RPE65 mutations in inherited retinal
degeneration.
Invest Ophthalmol Vis Sci. 2000
Dec;41(13):4293-9.
Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ.
Two decades of screening for congenital hypothyroidism in The Netherlands:
TPO gene mutations in total iodide organification defects (an update).
J Clin Endocrinol Metab. 2000
Oct;85(10):3708-12.
Algar EM, Deeble GJ, Smith PJ.
CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele
imbalance.
J Med Genet. 1999
Jul;36(7):524-31.
Jacobsen J, King BH, Leventhal BL, Christian SL, Ledbetter DH, Cook EH Jr.
Molecular screening for proximal 15q abnormalities in a mentally retarded
population.
J Med Genet. 1998
Jul;35(7):534-8.
Nuytinck L, Dalgleish R, Spotila L, Renard JP, Van Regemorter N, De Paepe A.
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains
of type I collagen results in different clinical and biochemical phenotypes.
Hum Genet. 1996 Mar;97(3):324-9.
Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ.
Mutation in a gene for type I procollagen (COL1A2) in a woman with
postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap
with mild osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1991
Jun 15;88(12):5423-7.
Lurie IW, Schwartz MF, Schwartz S, Cohen MM.
Trisomy 7p resulting from isochromosome formation and whole-arm
translocation.
Am J Med Genet. 1995 Jan
2;55(1):62-6.
Ferrier RA, Lowry RB, Lemire EG, Stoeber GP, Howard J, Parboosingh JS.
Father-to-son transmission of an X-linked gene: a case of paternal sex
chromosome heterodisomy.
Am J Med Genet A. 2009
Dec;149A(12):2871-3.
Vasudevan PC, Quarrell OW.
Prader-Willi and Klinefelter syndrome: a coincidence or not?
Clin Dysmorphol. 2007
Apr;16(2):127-9.
Moradkhani K, Puechberty J, Blanchet P, Coubes C, Lallaoui H, Lewin P,
Lefort G, Sarda P.
Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and
genetic mechanisms.
Prenat Diagn. 2006
Dec;26(12):1179-82.
Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray
B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V.
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's
disease in a child with Silver-Russell syndrome.
Eur J Hum Genet. 2005
Sep;13(9):1013-8.
de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I,
Matthijs G, Fryns JP, Vermeesch JR.
Post-zygotic origin of isochromosome 12p.
Prenat Diagn. 2004; 24(12):984-988.
Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno
AV, Rogan PK.
Relationship of sleep abnormalities to patient genotypes in Prader-Willi
syndrome.
Am J Med Genet. 1996 Sep
20;67(5):478-82.
Christian SL, Smith AC, Macha M, Black SH, Elder FF, Johnson JM, Resta RG,
Surti U, Suslak L, Verp MS, Ledbetter DH.
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
Prenat Diagn. 1996
Apr;16(4):323-32.
Kokkonen H, Kähkönen M, Leisti J.
A molecular and cytogenetic study in Finnish Prader-Willi patients.
Hum Genet. 1995
May;95(5):568-71.
Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton
M, Creswell C, McGurk R, Jacobs PA.
Evidence from Turner's syndrome of an imprinted X-linked locus affecting
cognitive function.
Nature. 1997 Jun
12;387(6634):705-8.
Gardner
RJ, Sutherland GR.
Chromosome abnormalities and genetic counseling.
Oxford University Press, 2004, p330.
Smith A, Marks R, Haan E, Dixon J, Trent RJ.
Clinical features in four patients with Angelman syndrome resulting from
paternal uniparental disomy.
J Med Genet. 1997
May;34(5):426-9.
Zackai EH,
McDonald-McGinn DM, Bason L, Bikngham P, Pellegrino J, Biegel J, Wolff DJ,
Younkin D, Chance PF, Spinner NB.
Molecular genetics gudes clinical geneticist: bedside to bensch-now a
two way street.
Am J Hum Genet 1995; 57:A106 (abstract 587).
Harpey JP, Heron D, Prudent M, Lesourd S, Henry I, Royer-Legrain G, Munnich
A, Bonnefont JP.
Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.
Am J Med Genet. 1998 Feb
26;76(1):103-4.
Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen
K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S,
Michaelis RC, Langlois S, Hassold TJ.
Maternal meiosis I non-disjunction of chromosome 15: dependence of the
maternal age effect on level of recombination.
Hum Mol Genet. 1998
Jun;7(6):1011-9.
Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm
S, Morris MA, Schinzel AA.
Nondisjunction of chromosome 15: origin and recombination.
Am J Hum Genet. 1993
Sep;53(3):740-51.
Robinson WP.
Mechanisms leading to uniparental disomy and their clinical consequences.
Bioessays. 2000 May;22(5):452-9.
Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray
B, Boerkoel C, Langlois S, Robinson WP.
Methylation profiling in individuals with Russell-Silver syndrome.
Am J Med Genet A. 2010
Feb;152A(2):347-55.
Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M.
[Prader Willi syndrome patients: study of 77 patients]
Med Clin (Barc). 2009 Nov
7;133(17):649-56.
Holsen LM, Zarcone JR, Chambers R, Butler MG, Bittel DC, Brooks WM, Thompson
TI, Savage CR.
Genetic subtype differences in neural circuitry of food motivation in
Prader-Willi syndrome.
Int J Obes (Lond). 2009
Feb;33(2):273-83.
Russel LJ, Bialer MG, Kelly TE.
Sequencial meiotic non-disjunction in 49,XXXXY and 48,XXYY: confirmation
using RFLPs.
Am J Hum Genet 1989; 45: A89.
Hassold T, Pettay D, May K, Robinson A.
Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy.
Hum Genet. 1990
Oct;85(6):648-50.
Deng HX, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada I, Fukushima Y,
Niikawa N.
Parental origin and mechanism of formation of polysomy X: an XXXXX case and
four XXXXY cases determined with RFLPs.
Hum Genet. 1991 Apr;86(6):541-4.
Villamar M, Benitez J, Fernández E, Ayuso C, Ramos C.
Parental origin of chromosomal nondisjunction in a 49,XXXXY male using
recombinant-DNA techniques.
Clin Genet. 1989
Sep;36(3):152-5.
Plaha DS, Duckett DP, Collacott RA, Young ID.
Origin of the X chromosomes in a patient with the 49,XXXXY syndrome.
J Med Genet. 1990
Mar;27(3):203-4.
Huang TH, Greenberg F, Ledbetter DH.’
Determination of the origin of nondisjunction in a 49,XXXXY male using
hypervariable dinucleotide repeat sequences.
Hum Genet. 1991
Apr;86(6):619-20.
Abdelhedi F, Lebbar A,
Cuisset L, Tsatsaris V, Viot G, Menard A, Sauto J, Druart L, Dupont JM.
Neonatal Silver-Russell syndrome with the unique combination of maternal UPD
7 and mosaic trisomy 7.
Europ J Hum Genet 2010, Vol 18 Suppl 1: 159 (Abstractnr. P05.59).
Ginglinger E, Montoya
E, Cordier C, Jeandidier E.
Confined placental mosaicism of 22 trisomy with normal prenatal
echosonography and normal eutrophic babyborn : trisomy rescue demonstrated
by presence of fetal uniparental isodisomy.
Europ J Hum Genet 2010, Vol 18 Suppl 1: 162 (Abstractnr. P05.70).
Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M,
Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D,
Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ,
Pérez-Jurado LA.
Mosaic uniparental disomies and aneuploidies as large structural variants of
the human genome.
Am J Hum Genet. 2010 Jul
9;87(1):129-38.
Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard
D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.
Chediak-Higashi syndrome with early developmental delay resulting from
paternal heterodisomy of chromosome 1.
Am J Med Genet A. 2010
Jun;152A(6):1474-83.
Estrada Veras JI, Markello TC, Tifft CJ.
A normal appearing child with developmental delay and uniparental maternal
disomy for all of chromosome 21 including a region of isodisomy.()
(5:00PM-6:00PM on Wed)
ASHG 2010; abstract 1303 - only online.
Mucha-Le Ny BE, Kalish JM, Spinner NB,
Zackai EH, Conlin LK.
Paternal UPD14 diagnosed by whole genome array: clinical and
radiological features.
ASHG 2010; abstract 782 - only online.
Harteveld CL, Rifaldi C, Giambona A,. Ruivenkamp C, Hoffer M,
Borgnia-Pignatti C, Maggio A, Cappellini M, Giordano PC.
Uniparental disomy and progressive clonal selection a common mechanism
causing late onset β-thalassemia major?
ASHG 2010; abstract 2383 - only online.
Nagai T, Matsubara K, Ogata T, Obata K,
Sakazume S, Kido Y, Murakami N.
Advanced maternal age increases the proportion of UPD in Prader-Willi
syndrome.
ASHG 2010; abstract 926 - only online.
Whittington JE, Butler JV, Holland AJ.
Changing rates of genetic subtypes of Prader-Willi syndrome in the UK.
Eur J Hum Genet. 2007
Jan;15(1):127-30.
Chen CP, Lin HM, Su YN, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Lee MS,
Pan CW, Wang W.
Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic
Analyses.
Taiwan J Obstet Gynecol. 2010
Sep;49(3):341-350.
Dawson A, Chernos J, McGowan-Jordan J, Lavoie J, Shetty S, Steinraths M, Jia-Chi
W, Xu J.
CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental
disomy.
Clin Genet. 2010 Sep 16. doi:
10.1111/j.1399-0004.2010.01547.x.
Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H.
Paternal uniparental isodisomy of the entire chromosome 20 as a molecular
cause of pseudohypoparathyroidism type Ib (PHP-Ib).
Bone. 2010 Oct 19. [Epub ahead
of print]
Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O,
Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard
S, Hussain K.
Familial Focal Congenital Hyperinsulinism.
J Clin Endocrinol Metab. 2010
Oct 13. [Epub ahead of print]
Toutain J, Labeau-Gaüzere C, Barnetche T, Horovitz J, Saura R.
Confined placental mosaicism and pregnancy outcome: a distinction needs to
be made between types 2 and 3.
Prenat Diagn. 2010 Oct 8. [Epub
ahead of print]
Anesi L, de Gemmis P, Pandolfo M, Hladnik U.
Two novel homozygous SACS mutations in unrelated patients including the
first reported case of paternal UPD as an etiologic cause of ARSACS.
J Mol Neurosci. 2010 Sep 18. [Epub
ahead of print]
Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi
F, Orduña R; Spanish PHP Group, Castaño L, Pérez de Nanclares G.
New mechanisms involved in paternal 20q disomy associated with
pseudohypoparathyroidism.
Eur J Endocrinol. 2010
Dec;163(6):953-962.
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R,
Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird
LM, Peters SU.
A neurodevelopmental survey of angelman syndrome with genotype-phenotype
correlations.
J Dev Behav Pediatr. 2010
Sep;31(7):592-601.
Dubé V, Chun K, Osborne R, Sherman C, Nofech-Mozes S, Ismiil N, Saad RS,
Khalifa MA.
Androgenetic complete mole with trisomy 13: report of a case with
microsatellite genotyping and review of the literature.
Pathol Res Pract. 2010 Nov
15;206(11):776-81.
Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT,
Curfs LM.
Sleep disturbances and behavioural problems in adults with Prader-Willi
syndrome.
J Intellect Disabil Res. 2010 Oct;54(10):906-17.
Sinnema M, van Roozendaal KE, Maaskant MA, Smeets HJ, Engelen JJ,
Jonker-Houben N, Schrander-Stumpel CT, Curfs LM.
Different distribution of the genetic subtypes of the Prader-Willi syndrome
in the elderly.
Eur J Hum Genet. 2010
Sep;18(9):993-8.
Swensen JJ, Agarwal AM, Esquilin JM, Swierczek S, Perumbeti A, Hussey D, Lee
M, Joiner CH, Pont-Kingdon G, Lyon E, Prchal JT.
Sickle cell disease resulting from uniparental disomy in a child who
inherited sickle cell trait.
Blood. 2010 Oct
14;116(15):2822-5.
Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N,
Ogata T.
Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like
phenotype.
J Med Genet. 2010
Nov;47(11):782-5.
Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R.
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy
of chromosome 7.
Am J Med Genet A. 2010
Sep;152A(9):2342-5.
Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel
A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B,
Antonarakis SE.
Methylation profiling in individuals with uniparental disomy identifies
novel differentially methylated regions on chromosome 15.
Genome Res. 2010
Sep;20(9):1271-8.
Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, Imakado S,
Akiyama M, Shimizu H.
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis
bullosa with pyloric atresia.
J Invest Dermatol. 2010
Nov;130(11):2671-4.
Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN,
Oakey RJ.
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal
methylation elicits the characteristic features of complete patUPD14.
Am J Med Genet A. 2010
Aug;152A(8):1942-50.
Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka
K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical
interaction and distinct functional properties as imprinting control
centers.
PLoS Genet. 2010 Jun
17;6(6):e1000992.
Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA.
Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated
cleft lip and palate.
Am J Med Genet A. 2010
Jul;152A(7):1818-21.
Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal
isodisomy of chromosome 1.
Am J Med Genet A. 2010
Jul;152A(7):1812-7.
Baskin B, Geraghty M, Ray PN.
Paternal isodisomy of chromosome 2 as a cause of long chain
3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Am J Med Genet A. 2010
Jul;152A(7):1808-11.
Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de
Leeuw N.
Identification of clinically significant, submicroscopic chromosome
alterations and UPD in fetuses with ultrasound anomalies using genome-wide
250k SNP array analysis.
J Med Genet. 2010
Sep;47(9):586-94.
Eggermann T, Begemann M, Binder G, Spengler S.
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Orphanet J Rare Dis. 2010 Jun
23;5:19.
Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S,
Raymond FL, Schwabe J, Gurnell M, Chatterjee VK.
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1
mutation in syndromic congenital hypothyroidism.
J Clin Endocrinol Metab. 2010
Aug;95(8):4031-6.
Castanet M, Polak M.
Spectrum of Human Foxe1/TTF2 Mutations.
Horm Res Paediatr.
2010;73(6):423-9.
Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH,
MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T,
Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM.
Epigenotype-phenotype correlations in Silver-Russell syndrome.
J Med Genet. 2010
Nov;47(11):760-8.
Ivanov PL, Bin'ko IA, Orekhov VA.
[An unusual case of investigation into the child's disputable descent
complicated by manifestation of a rare genomic mutation (disomy)]
Sud Med Ekspert. 2010
Jan-Feb;53(1):38-43. Russian.
Lennerz JK, Timmerman RJ, Grange DK, DeBaun MR, Feinberg AP, Zehnbauer BA.
Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann
syndrome (BWS) increases the diagnostic yield.
J Mol Diagn. 2010
Sep;12(5):576-88.
Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M,
Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG.
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and
heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: KATP
channel inactivation mechanism and clinical management.
Diabetes. 2011 Jan;60(1):209-17.
Epub 2010 Oct 27.
Glaser B, Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE,
Thornton PS.
Hyperinsulinism caused by paternal-specific inheritance of a recessive
mutation in the sulfonylurea-receptor gene.
Diabetes. 1999 Aug;48(8):1652-7.
Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş
S, Engelen J, Dundar M, Cağlayan AO.
Maternal uniparental isodisomy is responsible for serious molybdenum
cofactor deficiency.
Dev Med Child Neurol. 2010
Sep;52(9):868-72.
Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi
Y, Mukai T, Fujieda K.
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins
with transient neonatal diabetes mellitus and macroglossia.
Clin Genet. 2010
Dec;78(6):580-4.
Schinzel A.
Catalogue of unbalanced chromosome aberrations in man.
De Gruyter, 2001:19-22.
Bellon-Harn ML.
Clinical management of a child with Prader-Willi Syndrome from maternal
uniparental disomy (UPD) genetic inheritance.
J Commun Disord. 2005
Nov-Dec;38(6):459-72.
Dudley O, Muscatelli F.
Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a
genetically imprinted neurodevelopmental disorder.
Early Hum Dev. 2007
Jul;83(7):471-8.
Beardsmore A, Dorman T, Cooper SA, Webb T.
Affective psychosis and Prader-Willi syndrome.
J Intellect Disabil Res. 1998
Dec;42 ( Pt 6):463-71.
Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A,
Verhoeven W, Fryns JP.
Prader-Willi syndrome: new insights in the behavioural and psychiatric
spectrum.
J Intellect Disabil Res. 2002
Jan;46(Pt 1):41-50.
Dykens EM, Cassidy SB.
Correlates of maladaptive behavior in children and adults with Prader-Willi
syndrome.
Am J Med Genet. 1995 Dec
18;60(6):546-9.
Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF.
Prader-Willi syndrome--a study comparing deletion and uniparental disomy
cases with reference to autism spectrum disorders.
Eur Child Adolesc Psychiatry.
2004 Feb;13(1):42-50.
Hou JW, Wang TR, Chuang SM.
An epidemiological and aetiological study of children with intellectual
disability in Taiwan.
J Intellect Disabil Res. 1998
Apr;42 ( Pt 2):137-43.
Veltman MW, Craig EE, Bolton PF.
Autism spectrum disorders in Prader-Willi and Angelman syndromes: a
systematic review.
Psychiatr Genet. 2005
Dec;15(4):243-54.
Ceylaner G, Ceylaner S, Danişman N, Ergün A, Ekici E, Schinzel A, Baumer A.
Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy
(UPD): a case report.
Prenat Diagn. 2007
Nov;27(11):1072-4.
Vendrame M, Maski KP, Chatterjee M, Heshmati A, Krishnamoorthy K, Tan WH,
Kothare SV.
Epilepsy in Prader-Willi syndrome: Clinical characteristics and correlation
to genotype.
Epilepsy Behav.
2010 Nov;19(3):306-10. Epub 2010 Aug 21.
Bonanni P, Gobbo A, Nappi S, Moret O, Nogarol A, Santin M, Randazzo G,
Martinuzzi A.
Functioning and disability in patients with Angelman syndrome: utility of
the International Classification of functioning disability and health,
children and youth adaptation framework.
Disabil Rehabil. 2009;31 Suppl
1:S121-7.
Schuetzle MN, Uphoff TS, Hatten BA, Dawson DB.
Utility of microsatellite analysis in evaluation of pregnancies with
placental mesenchymal dysplasia.
Prenat Diagn. 2007
Dec;27(13):1238-44.
Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH,
Kennedy GC.
High-resolution identification of chromosomal abnormalities using
oligonucleotide arrays containing 116,204 SNPs.
Am J Hum Genet. 2005
Nov;77(5):709-26. Epub 2005 Sep 16. Erratum in: Am J Hum Genet. 2006
Mar;78(3):526.
Dimitropoulos A, Schultz RT.
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent
findings.
Curr Psychiatry Rep. 2007
Apr;9(2):159-64.
Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy
M, Curran SR, Sporikou CM, Bolton PF.
Prader-Willi syndrome: intellectual abilities and behavioural features by
genetic subtype.
J Child Psychol Psychiatry. 2005
Oct;46(10):1089-96.
Lewis BA, Freebaim L, Heeger S,
Cassady SB.
Speech and language skills of individuals with Prader-Willi syndrome.
Am J Speech-Language Pathol 2002; 11:285-294.
Schejbel L, Schmidt IM, Kirchhoff M, Andersen CB, Marquart HV, Zipfel P,
Garred P.
Complement factor H deficiency and endocapillary glomerulonephritis due to
paternal isodisomy and a novel factor H mutation.
Genes Immun.
2011 Mar;12(2):90-9.
Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura
KI, Harada N.
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing
a CUL7 gene mutation causing 3M syndrome.
Clin Genet. 2010 Nov 20. doi:
10.1111/j.1399-0004.2010.01599.x. [Epub ahead of print]
Yamazawa K, Nakabayashi K, Matsuoka K, Masubara K, Hata K, Horikawa R, Ogata
T.
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann
syndrome-like and upd(14)pat-like phenotypes.
J Hum Genet. 2011 Jan;56(1):91-3.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R,
F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE,
García-Miñaur S, Lapunzina P.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the
recombination breakpoints and evaluation of several techniques.
Eur J Hum Genet. 2011 Apr;19(4):416-21.
Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara
M.
Prenatal findings of paternal uniparental disomy 14: Delineation of further
patient.
Am J Med Genet A. 2010
Dec;152A(12):3189-92.
Yang XY, Zou LP, Song F, Zhang LP, Zheng H, Wu HS, Xiao J.
[Clinical manifestation and EEG characteristics of Angelman syndrome].
Zhonghua Er Ke Za Zhi. 2010
Oct;48(10):783-6. Chinese.
Hou A, Lin SP, Ho SY, Chen CF, Lin HY, Chen YJ, Huang CY, Chiu HC, Chuang
CK, Chen KS.
Genetic studies of prader-willi patients provide evidence for conservation
of genomic architecture in proximal chromosome 15q.
Ann Hum Genet. 2011 Mar;75(2):211-21
Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O,
Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B.
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy
in a child with pigmentary mosaicism and Russell- Silver syndrome.
Clin Genet. 2010 Dec 28. doi:
10.1111/j.1399-0004.2010.01621.x. [Epub ahead of print].
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R,
F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE,
García-Miñaur S, Lapunzina P.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the
recombination breakpoints and evaluation of several techniques.
Eur J Hum Genet. 2011 Apr;19(4):416-21. Epub 2011 Jan 19.
Morales C, Soler A, Badenas C, Rodríguez-Revenga L, Nadal A, Martínez JM,
Mademont-Soler I, Borrell A, Milà M, Sánchez A.
Reproductive consequences of genome-wide paternal uniparental disomy
mosaicism: description of two cases with different mechanisms of origin and
pregnancy outcomes.
Fertil Steril. 2009 Jul;92(1):393.e5-9.
Behnecke A, Janssen JWG, Hinderhofer K, Jauch A, Moog
U.
Familial reciprocal translocation t(7;13) associated with maternal
uniparental disomy 7 in a Silver-Russel-patient.
MedGen 2011, 23(1):100-101.
Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
A patient with
Prader-Willi syndrome and a supernumerary marker chromosome
r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
Am J Med Genet. 2004 Aug 30;129A(2):176-179.
Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH,
Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A.
Pericentric inversion of chromosome 18 in parents leading to a
phenotypically normal child with segmental uniparental disomy 18.
Eur J Hum Genet. 2011 May;19(5):555-560.
Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore
M, Gastier-Foster JM, Pyatt R.
Maternal uniparental disomy of chromosome 4 in a patient with limb girdle
muscular dystrophy 2E confirmed by SNP array technology.
Clin Genet. 2011 Apr 11 [Epub ahead of
print]
Sinnema M, Boer H, Collin P, Maaskant MA, van Roozendaal KE,
Schrander-Stumpel CT, Curfs LM.
Psychiatric illness in a cohort of adults with Prader-Willi syndrome.
Res
Dev Disabil. 2011 Sep-Oct;32(5):1729-35. Epub 2011 Mar 31.
Mussa A, Ferrero GB, Ceoloni B, Basso E, Chiesa N, De Crescenzo A, Pepe E,
Silengo M, de Sanctis L.
Neonatal hepatoblastoma in a newborn with severe phenotype of
Beckwith-Wiedemann syndrome.
Eur J Pediatr. 2011 Mar 30. [Epub ahead of
print]
Miyazaki O, Nishimura G, Kagami M, Ogata T.
Radiological evaluation of dysmorphic thorax of paternal uniparental disomy
14.
Pediatr Radiol. 2011
Aug;41(8):1013-9.
Michieletto P, Bonanni P, Pensiero S.
Ophthalmic findings in Angelman syndrome.
J AAPOS. 2011 Apr;15(2):158-61.
Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD,
Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J.
UPD detection using homozygosity profiling with a SNP genotyping microarray.
Am J Med Genet A. 2011 Apr;155(4):757-68. doi:
10.1002/ajmg.a.33939. Epub 2011 Mar 15.
Sinnema M,
Schrander-Stumpel CTRM, Maaskant AM, Curfs LMG.l
Ageing in Prader-Willi syndrome: Twelve
persons over the age of 50 years.
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 24 (Abstractnr. C02.4)
Jongmans MCJ, Kuiper R, Heijdra Y,
Vulliamy T, Kamping E, BongersE, van Leeuwen F, van Gassen K, van Krieken H,
Geurts van Kessel A, Dokal I, Ligtenberg M, Hoogerbrugge N.
Revertant somatic mosaicism in Dyskeratosis
Congenita by mitotic recombination.
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. C04.5)
Tańska A, Ciara
E, Marczak-Hałupka A, Kugaudo M, Kalina M, Jurkiewicz D, Borucka-Mankiewicz
M, Kowalski P, Łuczak S,
Pelc M, Piekutowska-Abramczuk D, Trubicka J, Krajewska-Walasek M,
ChrzanowskaK.
Molecular investigations of Polish patients with Silver-Russell
syndrome
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 121 (Abstractnr. P02.226)
Platzer K, Stefanova I, Buiting K,
Purmann S, Gillessen-Kaesbach G.
A six year old boy with Temple syndrome due to
segmental maternal uniparental disomy 14 and clinical features of Prader
Willi syndrome.
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 123 (Abstractnr. P02.234)
Kuhn KE, Essop F, Krause A.
Paternal uniparental disomy (UPD) 14 is an
important cause of infantile hypotonia in a South African cohort.
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 125 (Abstractnr. P02.241)
Kolotii AD, Vorsanova SG, Voinova VY,
Kurinnaia OS, Demidova IA, Beresheva AK, Kravets VS, Soloviev IV, Yurov YB,
Iourov IY.
Rare case of 46,X,idic(X)(p11.2)/46,XX mosaicism
in an autistic child with developmental delay: a karyotypic marker of X
chromosome isodisomy and an X-linked mutation.
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. P03.098)
Matsubara K, Murakami N, Sakazume S,
Ooto Y, Ogata T, Nagai T.
Risk assessment of ART and its related factors in
the development of Prader - Willi syndrome
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 167 (Abstractnr. P04.35)
Meddeb R, Trabelsi M, Chaabouni M,
Laaribi Y, Maazoul F, Ouertani I, Ben Jemaa L, Khouja N, Fdhila F, Bouhamed
Chaabouni H, Mrad R.
Molecular analysis of Prader-Willi and Angelman
syndromes: A study of twenty Tunisian patients
Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 260 (Abstractnr. P08.58)
Matsubara K, Murakami N, Nagai T, Ogata T.
Maternal age effect on the development of Prader-Willi syndrome resulting
from upd(15)mat through meiosis 1 errors.
J Hum Genet. 2011 Jun 2. [Epub ahead of
print]
Vardi O, Davidovitch M, Vinkler C, Michelson M, Lerman-Sagie T, Lev D.
Autistic regression in a child with Silver-Russell Syndrome and maternal UPD
7.
Eur J Paediatr Neurol. 2011 Jul 11. [Epub
ahead of print]
Boisseau P, Giraud M, Ternisien C, Veyradier A, Fressinaud E, Lefrancois A,
Bezieau S, Fouassier M.
An unexpected transmission of von Willebrand disease type 3: the first case
of maternal uniparental disomy 12.
Haematologica. 2011 Jul 12. [Epub ahead of
print]
Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T,
Surti U.
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel
placental findings.
Am J Med Genet A. 2011
Aug;155(8):1996-2002.
Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V,
Antignac C, Heidet L.
Maternal uniparental disomy of chromosome 16 in a patient with adenine
phosphoribosyltransferase deficiency.
Clin Genet. 2011 Aug;80(2):199-201.
Schaaf
CP, Wiszniewska J, Beaudet AL.
Copy number and SNP arrays in clinical diagnostics.
Annu Rev Genomics Hum
Genet. 2011 Sep 22;12:25-51.
|
----------------------------------- |
