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Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Hughes-Benzie RM, et al. Among authors: pagon ra. Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958336
Autosomal dominant inheritance of Barber-Say syndrome.
Dinulos MB, Pagon RA. Dinulos MB, et al. Among authors: pagon ra. Am J Med Genet. 1999 Sep 3;86(1):54-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10440829
Mother to son transmission of del(1) (q42.1q42.3).
Sanford Hanna JA, Ball S, Pagon RA, Donlan M. Sanford Hanna JA, et al. Among authors: pagon ra. Am J Med Genet. 2001 Jan 1;98(1):103-6. Am J Med Genet. 2001. PMID: 11426447
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Malzac P, et al. Among authors: pagon ra. Am J Hum Genet. 1998 Jun;62(6):1353-60. doi: 10.1086/301877. Am J Hum Genet. 1998. PMID: 9585605 Free PMC article.
924 results