174 related articles for article (PubMed ID: 17903679)
21. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD
Nature; 1993 Jan; 361(6407):72-6. PubMed ID: 8421497
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome.
Phadke SR; Sharda S
Am J Med Genet A; 2008 Aug; 146A(15):1999-2000. PubMed ID: 18627036
[No Abstract] [Full Text] [Related]
24. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.
Glenn CC; Nicholls RD; Robinson WP; Saitoh S; Niikawa N; Schinzel A; Horsthemke B; Driscoll DJ
Hum Mol Genet; 1993 Sep; 2(9):1377-82. PubMed ID: 8242060
[TBL] [Abstract][Full Text] [Related]
25. [Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
Zhou QJ; Gong P; Jiao XR; Yang ZX
Beijing Da Xue Xue Bao Yi Xue Ban; 2023 Feb; 55(1):181-185. PubMed ID: 36718709
[TBL] [Abstract][Full Text] [Related]
26. [Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].
Dupont JM; Cuisset L
Arch Pediatr; 1998 Apr; 5(4):418-24. PubMed ID: 9759164
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. [Variation analysis of the number of copies and methylene patterns in region 15q11-q13].
Laurito S; Roqué M
Medicina (B Aires); 2018; 78(1):1-5. PubMed ID: 29360068
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
Bürger J; Kunze J; Sperling K; Reis A
Am J Med Genet; 1996 Dec; 66(2):221-6. PubMed ID: 8958335
[TBL] [Abstract][Full Text] [Related]
30. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Mutirangura A; Jayakumar A; Sutcliffe JS; Nakao M; McKinney MJ; Buiting K; Horsthemke B; Beaudet AL; Chinault AC; Ledbetter DH
Genomics; 1993 Dec; 18(3):546-52. PubMed ID: 8307564
[TBL] [Abstract][Full Text] [Related]
31. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Christian SL; Fantes JA; Mewborn SK; Huang B; Ledbetter DH
Hum Mol Genet; 1999 Jun; 8(6):1025-37. PubMed ID: 10332034
[TBL] [Abstract][Full Text] [Related]
32. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
[TBL] [Abstract][Full Text] [Related]
33. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Engelen JJ; Loots WJ; Albrechts JC; Schrander-Stumpel CT; Dirckx R; Smeets HJ; Hamers AJ; Geraedts JP
Genet Couns; 1999; 10(2):123-32. PubMed ID: 10422004
[TBL] [Abstract][Full Text] [Related]
34. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
Dittrich B; Robinson WP; Knoblauch H; Buiting K; Schmidt K; Gillessen-Kaesbach G; Horsthemke B
Hum Genet; 1992 Nov; 90(3):313-5. PubMed ID: 1487250
[TBL] [Abstract][Full Text] [Related]
35. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Burrage LC; Person RE; Flores A; Villanos MT; Bi W; Wiszniewska J; Bacino CA
Am J Med Genet A; 2012 Oct; 158A(10):2557-63. PubMed ID: 22903639
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.
Yang J; Yang Y; Huang Y; Hu Y; Chen X; Sun H; Lv Z; Cheng Q; Bao L
BMC Med Genet; 2013 Jan; 14():9. PubMed ID: 23320815
[TBL] [Abstract][Full Text] [Related]
38. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.
Chang CW; Hsu HK; Kao CC; Huang JY; Kuo PL
Int J Gynaecol Obstet; 2014 Apr; 125(1):18-21. PubMed ID: 24434231
[TBL] [Abstract][Full Text] [Related]
39. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.
Smith A; Prasad M; Deng ZM; Robson L; Woodage T; Trent RJ
Arch Dis Child; 1995 May; 72(5):397-402. PubMed ID: 7618904
[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]