287 related articles for article (PubMed ID: 12563398)
1. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.
De Molfetta GA; Felix TM; Riegel M; Ferraz VE; de Pina Neto JM
Arq Neuropsiquiatr; 2002 Dec; 60(4):1011-4. PubMed ID: 12563398
[TBL] [Abstract][Full Text] [Related]
2. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
Chotai KA; Payne SJ
J Med Genet; 1998 Jun; 35(6):472-5. PubMed ID: 9643288
[TBL] [Abstract][Full Text] [Related]
3. Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
Runte M; Färber C; Lich C; Zeschnigk M; Buchholz T; Smith A; Van Maldergem L; Bürger J; Muscatelli F; Gillessen-Kaesbach G; Horsthemke B; Buiting K
Eur J Hum Genet; 2001 Jul; 9(7):519-26. PubMed ID: 11464243
[TBL] [Abstract][Full Text] [Related]
4. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.
Buchholz T; Jackson J; Robson L; Smith A
Hum Genet; 1998 Nov; 103(5):535-9. PubMed ID: 9860294
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.
Brant JO; Riva A; Resnick JL; Yang TP
Epigenetics; 2014 Nov; 9(11):1540-56. PubMed ID: 25482058
[TBL] [Abstract][Full Text] [Related]
8. FISH analysis in Prader-Willi and Angelman syndrome patients.
Bettio D; Rizzi N; Giardino D; Grugni G; Briscioli V; Selicorni A; Carnevale F; Larizza L
Am J Med Genet; 1995 Mar; 56(2):224-8. PubMed ID: 7625450
[TBL] [Abstract][Full Text] [Related]
9. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
Teshima I; Chadwick D; Chitayat D; Kobayashi J; Ray P; Shuman C; Siegel-Bartelt J; Strasberg P; Weksberg R
Am J Med Genet; 1996 Mar; 62(3):217-23. PubMed ID: 8882776
[TBL] [Abstract][Full Text] [Related]
10. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
Erdel M; Schuffenhauer S; Buchholz B; Barth-Witte U; Köchl S; Utermann B; Duba HC; Utermann G
Hum Genet; 1996 Jun; 97(6):784-93. PubMed ID: 8641697
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
Buiting K; Gross S; Lich C; Gillessen-Kaesbach G; el-Maarri O; Horsthemke B
Am J Hum Genet; 2003 Mar; 72(3):571-7. PubMed ID: 12545427
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Prader-Willi syndrome and Angelman syndrome.
Buiting K
Am J Med Genet C Semin Med Genet; 2010 Aug; 154C(3):365-76. PubMed ID: 20803659
[TBL] [Abstract][Full Text] [Related]
15. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
Hassan M; Butler MG
Eur J Med Genet; 2016 Nov; 59(11):584-589. PubMed ID: 27659713
[TBL] [Abstract][Full Text] [Related]
16. A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.
Maggouta F; Roberts SE; Dennis NR; Veltman MW; Crolla JA
J Med Genet; 2003 Jul; 40(7):e84. PubMed ID: 12843333
[No Abstract] [Full Text] [Related]
17. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
Clayton-Smith J; Driscoll DJ; Waters MF; Webb T; Andrews T; Malcolm S; Pembrey ME; Nicholls RD
Am J Med Genet; 1993 Oct; 47(5):683-6. PubMed ID: 8266996
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Buiting K; Saitoh S; Gross S; Dittrich B; Schwartz S; Nicholls RD; Horsthemke B
Nat Genet; 1995 Apr; 9(4):395-400. PubMed ID: 7795645
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]