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Cytogenetic and molecular analysis in Angelman syndrome.
Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA. Zackowski JL, et al. Among authors: nicholls rd. Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104. Am J Med Genet. 1993. PMID: 8098583
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. Saitoh S, et al. Among authors: nicholls rd. Am J Med Genet. 1997 Jan 20;68(2):195-206. Am J Med Genet. 1997. PMID: 9028458
Imprinting-mutation mechanisms in Prader-Willi syndrome.
Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD. Ohta T, et al. Among authors: nicholls rd. Am J Hum Genet. 1999 Feb;64(2):397-413. doi: 10.1086/302233. Am J Hum Genet. 1999. PMID: 9973278 Free PMC article.
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Lossie AC, et al. Among authors: nicholls rd. J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. J Med Genet. 2001. PMID: 11748306 Free PMC article.
142 results