154 related articles for article (PubMed ID: 7888134)
1. Family studies in Prader-Willi syndrome.
Webb T; Hardy CA; Dahlitz M; Watkiss E; Clarke D
Genet Couns; 1994; 5(4):329-36. PubMed ID: 7888134
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.
Gunay-Aygun M; Heeger S; Schwartz S; Cassidy SB
Am J Med Genet; 1997 Jul; 71(1):106-10. PubMed ID: 9215778
[TBL] [Abstract][Full Text] [Related]
4. Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
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
Am J Med Genet; 1996 Oct; 65(2):133-6. PubMed ID: 8911605
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
Saitoh S; Buiting K; Cassidy SB; Conroy JM; Driscoll DJ; Gabriel JM; Gillessen-Kaesbach G; Glenn CC; Greenswag LR; Horsthemke B; Kondo I; Kuwajima K; Niikawa N; Rogan PK; Schwartz S; Seip J; Williams CA; Nicholls RD
Am J Med Genet; 1997 Jan; 68(2):195-206. PubMed ID: 9028458
[TBL] [Abstract][Full Text] [Related]
8. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
Knoll JH; Nicholls RD; Magenis RE; Graham JM; Lalande M; Latt SA
Am J Med Genet; 1989 Feb; 32(2):285-90. PubMed ID: 2564739
[TBL] [Abstract][Full Text] [Related]
9. Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?
Kim HJ; Cho HJ; Jin DK; Kwon EK; Ki CS; Kim JW; Kim SH
Clin Genet; 2004 Oct; 66(4):368-72. PubMed ID: 15355442
[No Abstract] [Full Text] [Related]
10. Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family.
Webb T; Malcolm S; Pembrey ME; Clayton-Smith J
Genet Couns; 1993; 4(1):1-6. PubMed ID: 8471216
[TBL] [Abstract][Full Text] [Related]
11. The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
Mascari MJ; Gottlieb W; Rogan PK; Butler MG; Waller DA; Armour JA; Jeffreys AJ; Ladda RL; Nicholls RD
N Engl J Med; 1992 Jun; 326(24):1599-607. PubMed ID: 1584261
[TBL] [Abstract][Full Text] [Related]
12. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
Varela MC; Kok F; Setian N; Kim CA; Koiffmann CP
Clin Genet; 2005 Jan; 67(1):47-52. PubMed ID: 15617548
[TBL] [Abstract][Full Text] [Related]
13. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
Gilhuis HJ; van Ravenswaaij CM; Hamel BJ; Gabreëls FJ
Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104
[TBL] [Abstract][Full Text] [Related]
14. Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.
Orstavik KH; Tangsrud SE; Kiil R; Hansteen IL; Steen-Johnsen J; Cassidy SB; Martony A; Anvret M; Tommerup N; Bröndum-Nielsen K
Am J Med Genet; 1992 Nov; 44(4):534-8. PubMed ID: 1442901
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
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. 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]
20. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
L'Herminé AC; Aboura A; Brisset S; Cuisset L; Castaigne V; Labrune P; Frydman R; Tachdjian G
Prenat Diagn; 2003 Nov; 23(11):938-43. PubMed ID: 14634983
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
