154 related articles for article (PubMed ID: 7888134)
21. 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]
22. 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]
23. [Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?].
Fernández-Novoa MC; Vargas MT; Vizmanos JL; Garnacho C; Martínez JJ; Sanz P; Lluch D
Rev Neurol; 2001 May 16-31; 32(10):935-8. PubMed ID: 11424049
[TBL] [Abstract][Full Text] [Related]
24. [A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi syndrome].
Barabash A; Robledo M; Sanz R; Renedo M; Ramos C; Ayuso C; Benítez J
Med Clin (Barc); 1997 Mar; 108(8):304-6. PubMed ID: 9121208
[TBL] [Abstract][Full Text] [Related]
25. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview.
Knoll JH; Wagstaff J; Lalande M
Am J Med Genet; 1993 Apr; 46(1):2-6. PubMed ID: 8388170
[TBL] [Abstract][Full Text] [Related]
26. Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome.
Vgontzas AN; Kales A; Seip J; Mascari MJ; Bixler EO; Myers DC; Vela-Bueno AV; Rogan PK
Am J Med Genet; 1996 Sep; 67(5):478-82. PubMed ID: 8886165
[TBL] [Abstract][Full Text] [Related]
27. Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Knoll JH; Glatt KA; Nicholls RD; Malcolm S; Lalande M
Am J Hum Genet; 1991 Jan; 48(1):16-21. PubMed ID: 1985457
[TBL] [Abstract][Full Text] [Related]
28. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy.
Dykens EM; Cassidy SB; King BH
Am J Ment Retard; 1999 Jan; 104(1):67-77. PubMed ID: 9972835
[TBL] [Abstract][Full Text] [Related]
29. Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader-Willi syndrome: an ERP study.
Stauder JE; Boer H; Gerits RH; Tummers A; Whittington J; Curfs LM
Clin Neurophysiol; 2005 Jun; 116(6):1464-70. PubMed ID: 15978509
[TBL] [Abstract][Full Text] [Related]
30. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
Nicholls RD; Knoll JH; Butler MG; Karam S; Lalande M
Nature; 1989 Nov; 342(6247):281-5. PubMed ID: 2812027
[TBL] [Abstract][Full Text] [Related]
31. 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.
Flori E; Biancalana V; Girard-Lemaire F; Favre R; Flori J; Doray B; Mandel JL
Eur J Hum Genet; 2004 Mar; 12(3):181-6. PubMed ID: 14694357
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.
Nicholls RD
Am J Med Genet; 1993 Apr; 46(1):16-25. PubMed ID: 8388169
[TBL] [Abstract][Full Text] [Related]
34. Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Saitoh S; Hosoki K; Takano K; Tonoki H
Clin Genet; 2007 Oct; 72(4):378-80. PubMed ID: 17850637
[No Abstract] [Full Text] [Related]
35. [Prader-Willi syndrome or Angelman syndrome? A question of maternal or paternal chromosome 15].
Ritzén M; Anvret M
Lakartidningen; 1992 May; 89(22):1985-6. PubMed ID: 1630213
[No Abstract] [Full Text] [Related]
36. Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
Klein OD; Cotter PD; Albertson DG; Pinkel D; Tidyman WE; Moore MW; Rauen KA
Clin Genet; 2004 Jun; 65(6):477-82. PubMed ID: 15151506
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. [Cytogenetic detection of Prader-Willi syndrome in infancy].
Götz J; Krüger G; Westphal BC; Pelz L
Kinderarztl Prax; 1989 May; 57(5):239-43. PubMed ID: 2747122
[TBL] [Abstract][Full Text] [Related]
39. Neonatal presentation of Prader Willi sindrome. Personal records.
Maggio MC; Corsello M; Piccione M; Piro E; Giuffrè M; Liotta A
Minerva Pediatr; 2007 Dec; 59(6):817-23. PubMed ID: 17978792
[TBL] [Abstract][Full Text] [Related]
40. [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
Li MR; Wang XZ; Liu XY; Yang YL; Bao XH; Zhang YH; Xiong H; Zhong N; Qin J; Wu XR; Pan H
Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3257-61. PubMed ID: 19159549
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]