928 related articles for article (PubMed ID: 11146466)
1. 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]
2. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Robinson WP; Langlois S; Schuffenhauer S; Horsthemke B; Michaelis RC; Christian S; Ledbetter DH; Schinzel A
Prenat Diagn; 1996 Sep; 16(9):837-44. PubMed ID: 8905898
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
Christian SL; Smith AC; Macha M; Black SH; Elder FF; Johnson JM; Resta RG; Surti U; Suslak L; Verp MS; Ledbetter DH
Prenat Diagn; 1996 Apr; 16(4):323-32. PubMed ID: 8734806
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
Kotzot D
Eur J Hum Genet; 2004 May; 12(5):343-6. PubMed ID: 14747835
[TBL] [Abstract][Full Text] [Related]
6. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
Calounova G; Novotna D; Simandlova M; Havlovicova M; Zumrová A; Kocarek E; Sedlacek Z
Neuro Endocrinol Lett; 2006 Oct; 27(5):579-85. PubMed ID: 17159828
[TBL] [Abstract][Full Text] [Related]
7. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
Nicholls RD; Pai GS; Gottlieb W; Cantú ES
Ann Neurol; 1992 Oct; 32(4):512-8. PubMed ID: 1360787
[TBL] [Abstract][Full Text] [Related]
8. [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
Mergenthaler S; Dobos M; Wollmann H; Eggermann K; Schwanitz G; Eggermann T
Orv Hetil; 2001 Jul; 142(29):1561-4. PubMed ID: 11494748
[TBL] [Abstract][Full Text] [Related]
9. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
Horsthemke B; Nazlican H; Hüsing J; Klein-Hitpass L; Claussen U; Michel S; Lich C; Gillessen-Kaesbach G; Buiting K
Hum Mol Genet; 2003 Oct; 12(20):2723-32. PubMed ID: 12944418
[TBL] [Abstract][Full Text] [Related]
10. Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder.
Dudley O; Muscatelli F
Early Hum Dev; 2007 Jul; 83(7):471-8. PubMed ID: 17055193
[TBL] [Abstract][Full Text] [Related]
11. Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.
Saitoh S; Wada T; Okajima M; Takano K; Sudo A; Niikawa N
Brain Dev; 2005 Aug; 27(5):389-91. PubMed ID: 16023557
[TBL] [Abstract][Full Text] [Related]
12. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
Cassidy SB; Forsythe M; Heeger S; Nicholls RD; Schork N; Benn P; Schwartz S
Am J Med Genet; 1997 Feb; 68(4):433-40. PubMed ID: 9021017
[TBL] [Abstract][Full Text] [Related]
13. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome.
Salavoura K; Kolialexi A; Sofocleous C; Kalaitzidaki M; Pampanos A; Kitsiou S; Mavrou A
Genet Couns; 2008; 19(2):219-24. PubMed ID: 18618997
[TBL] [Abstract][Full Text] [Related]
14. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
Camprubí C; Coll MD; Villatoro S; Gabau E; Kamli A; Martínez MJ; Poyatos D; Guitart M
Eur J Med Genet; 2007; 50(1):11-20. PubMed ID: 17095305
[TBL] [Abstract][Full Text] [Related]
15. Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
Schinzel A; Kotzot D; Brecevic L; Robinson WP; Dutly F; Dauwerse H; Binkert F; Baumer A; Ausserer B
Eur J Hum Genet; 1997; 5(5):308-14. PubMed ID: 9412788
[TBL] [Abstract][Full Text] [Related]
16. [Uniparental disomy: a review of causes and clinical sequelae].
Engel E
Ann Genet; 1995; 38(3):113-36. PubMed ID: 8540683
[TBL] [Abstract][Full Text] [Related]
17. Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.
Murthy SK; al-Nassar KE; Verghese L
Nutrition; 1995; 11(5 Suppl):650-2. PubMed ID: 8748243
[TBL] [Abstract][Full Text] [Related]
18. Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
Matsubara K; Murakami N; Nagai T; Ogata T
J Hum Genet; 2011 Aug; 56(8):566-71. PubMed ID: 21633360
[TBL] [Abstract][Full Text] [Related]
19. A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
Giardina E; Peconi C; Cascella R; Sinibaldi C; Nardone AM; Novelli G
Electrophoresis; 2008 Dec; 29(23):4775-9. PubMed ID: 19053076
[TBL] [Abstract][Full Text] [Related]
20. Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.
Papenhausen PR; Mueller OT; Johnson VP; Sutcliffe M; Diamond TM; Kousseff BG
Am J Med Genet; 1995 Nov; 59(3):271-5. PubMed ID: 8599348
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]