202 related articles for article (PubMed ID: 26064710)
21. De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.
Kitsiou-Tzeli S; Tzetis M; Sofocleous C; Vrettou C; Xaidara A; Giannikou K; Pampanos A; Mavrou A; Kanavakis E
Am J Med Genet A; 2010 Aug; 152A(8):1925-32. PubMed ID: 20575009
[TBL] [Abstract][Full Text] [Related]
22. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
Shao H; Lip V; Wu BL
Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):64-7. PubMed ID: 15719045
[TBL] [Abstract][Full Text] [Related]
23. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.
Borelina D; Engel N; Esperante S; Ferreiro V; Ferrer M; Torrado M; Goldschmidt E; Francipane L; Szijan I
J Biochem Mol Biol; 2004 Sep; 37(5):522-6. PubMed ID: 15479613
[TBL] [Abstract][Full Text] [Related]
24. Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13.
Kim BY; Lee JS; Kim YO; Koo SK; Park MH
Stem Cell Res; 2020 Jul; 46():101847. PubMed ID: 32474395
[TBL] [Abstract][Full Text] [Related]
25. The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Robinson WP; Dutly F; Nicholls RD; Bernasconi F; Peñaherrera M; Michaelis RC; Abeliovich D; Schinzel AA
J Med Genet; 1998 Feb; 35(2):130-6. PubMed ID: 9580159
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD).
Kim BY; Lee JS; Kim YO; Park MH; Koo SK
Stem Cell Res; 2019 Dec; 41():101647. PubMed ID: 31756696
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.
Lee S; Wevrick R
Am J Hum Genet; 2000 Mar; 66(3):848-58. PubMed ID: 10712201
[TBL] [Abstract][Full Text] [Related]
30. [Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].
Zhan SN; Wang CZ; Yang Y; Wang Y; Wu HL; Li H; He XY
Zhongguo Dang Dai Er Ke Za Zhi; 2012 Jun; 14(6):445-8. PubMed ID: 22738453
[TBL] [Abstract][Full Text] [Related]
31. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
Kim SJ; Miller JL; Kuipers PJ; German JR; Beaudet AL; Sahoo T; Driscoll DJ
Eur J Hum Genet; 2012 Mar; 20(3):283-90. PubMed ID: 22045295
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
Kubota T; Sutcliffe JS; Aradhya S; Gillessen-Kaesbach G; Christian SL; Horsthemke B; Beaudet AL; Ledbetter DH
Am J Med Genet; 1996 Dec; 66(1):77-80. PubMed ID: 8957518
[TBL] [Abstract][Full Text] [Related]
35. Prader-Willi Syndrome: Obesity due to Genomic Imprinting.
Butler MG
Curr Genomics; 2011 May; 12(3):204-15. PubMed ID: 22043168
[TBL] [Abstract][Full Text] [Related]
36. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Murthy SK; Nygren AO; El Shakankiry HM; Schouten JP; Al Khayat AI; Ridha A; Al Ali MT
Cytogenet Genome Res; 2007; 116(1-2):135-40. PubMed ID: 17268193
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.
Cintra HA; Rocha DN; da Costa ACC; Tyszler LS; Freitas S; de Araujo LA; Crozoe LI; de Paula LR; Correia PS; Gomes LHF; da Cunha Guida L
Orphanet J Rare Dis; 2024 Jun; 19(1):240. PubMed ID: 38902749
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader-Willi Syndrome in Thai Patients.
Prapasrat C; Onsod P; Korkiatsakul V; Rerkamnuaychoke B; Wattanasirichaigoon D; Chareonsirisuthigul T
J Pediatr Genet; 2023 Dec; 12(4):273-279. PubMed ID: 38162164
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]