477 related articles for article (PubMed ID: 8872029)
1. Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?
Smith A
Acta Genet Med Gemellol (Roma); 1996; 45(1-2):179-89. PubMed ID: 8872029
[TBL] [Abstract][Full Text] [Related]
2. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Glenn CC; Driscoll DJ; Yang TP; Nicholls RD
Mol Hum Reprod; 1997 Apr; 3(4):321-32. PubMed ID: 9237260
[TBL] [Abstract][Full Text] [Related]
3. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.
Brøndum-Nielsen K
Acta Paediatr Suppl; 1997 Nov; 423():55-7. PubMed ID: 9401540
[TBL] [Abstract][Full Text] [Related]
4. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Glenn CC; Nicholls RD; Robinson WP; Saitoh S; Niikawa N; Schinzel A; Horsthemke B; Driscoll DJ
Hum Mol Genet; 1993 Sep; 2(9):1377-82. PubMed ID: 8242060
[TBL] [Abstract][Full Text] [Related]
5. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
[TBL] [Abstract][Full Text] [Related]
6. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.
Wu MY; Jiang M; Zhai X; Beaudet AL; Wu RC
PLoS One; 2012; 7(4):e34348. PubMed ID: 22496793
[TBL] [Abstract][Full Text] [Related]
7. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Driscoll DJ; Waters MF; Williams CA; Zori RT; Glenn CC; Avidano KM; Nicholls RD
Genomics; 1992 Aug; 13(4):917-24. PubMed ID: 1505981
[TBL] [Abstract][Full Text] [Related]
8. Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.
Fridman C; Koiffmann CP
Am J Med Genet; 2000 Sep; 94(3):249-53. PubMed ID: 10995513
[TBL] [Abstract][Full Text] [Related]
9. Prader-Willi syndrome: reflections on seminal studies and future therapies.
Chung MS; Langouët M; Chamberlain SJ; Carmichael GG
Open Biol; 2020 Sep; 10(9):200195. PubMed ID: 32961075
[TBL] [Abstract][Full Text] [Related]
10. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
Schulze A; Hansen C; Skakkebaek NE; Brøndum-Nielsen K; Ledbeter DH; Tommerup N
Nat Genet; 1996 Apr; 12(4):452-4. PubMed ID: 8630505
[TBL] [Abstract][Full Text] [Related]
11. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
Ginsburg C; Fokstuen S; Schinzel A
Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
[TBL] [Abstract][Full Text] [Related]
12. Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.
Liu S; Zhang K; Song F; Yang Y; Lv Y; Gao M; Liu Y; Gai Z
Cytogenet Genome Res; 2017; 152(1):1-8. PubMed ID: 28647735
[TBL] [Abstract][Full Text] [Related]
13. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K; Dittrich B; Gross S; Lich C; Färber C; Buchholz T; Smith E; Reis A; Bürger J; Nöthen MM; Barth-Witte U; Janssen B; Abeliovich D; Lerer I; van den Ouweland AM; Halley DJ; Schrander-Stumpel C; Smeets H; Meinecke P; Malcolm S; Gardner A; Lalande M; Nicholls RD; Friend K; Schulze A; Matthijs G; Kokkonen H; Hilbert P; Van Maldergem L; Glover G; Carbonell P; Willems P; Gillessen-Kaesbach G; Horsthemke B
Am J Hum Genet; 1998 Jul; 63(1):170-80. PubMed ID: 9634532
[TBL] [Abstract][Full Text] [Related]
14. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
Zeschnigk M; Schmitz B; Dittrich B; Buiting K; Horsthemke B; Doerfler W
Hum Mol Genet; 1997 Mar; 6(3):387-95. PubMed ID: 9147641
[TBL] [Abstract][Full Text] [Related]
15. [Prader-Willi syndrome and genomic imprinting].
Wang W; Wang DF; Cui YF; Ni JH; Dong ZY; Fu MF; Fu HM; Lu GQ; Chen FS
Zhonghua Er Ke Za Zhi; 2003 Jun; 41(6):453-6. PubMed ID: 14749005
[TBL] [Abstract][Full Text] [Related]
16. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.
Bittel DC; Kibiryeva N; Talebizadeh Z; Butler MG
J Med Genet; 2003 Aug; 40(8):568-74. PubMed ID: 12920063
[TBL] [Abstract][Full Text] [Related]
17. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
Liehr T; Brude E; Gillessen-Kaesbach G; König R; Mrasek K; von Eggeling F; Starke H
Eur J Med Genet; 2005; 48(2):175-81. PubMed ID: 16053909
[TBL] [Abstract][Full Text] [Related]
18. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
Park JP; Moeschler JB; Hani VH; Hawk AB; Belloni DR; Noll WW; Mohandas TK
Am J Med Genet; 1998 Jun; 78(2):134-9. PubMed ID: 9674903
[TBL] [Abstract][Full Text] [Related]
19. Gender influences monoallelic expression of ATP10A in human brain.
Hogart A; Patzel KA; LaSalle JM
Hum Genet; 2008 Oct; 124(3):235-42. PubMed ID: 18726118
[TBL] [Abstract][Full Text] [Related]
20. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
Procter M; Chou LS; Tang W; Jama M; Mao R
Clin Chem; 2006 Jul; 52(7):1276-83. PubMed ID: 16690734
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]