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Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. Telatar M, et al. Among authors: porras o. Am J Hum Genet. 1998 Jan;62(1):86-97. doi: 10.1086/301673. Am J Hum Genet. 1998. PMID: 9443866 Free PMC article.
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
Gatti RA, Lange E, Rotman G, Chen X, Uhrhammer N, Liang T, Chiplunkar S, Yang L, Udar N, Dandekar S, Sheikhavandi S, Wang Z, Yang HM, Polikow J, Elashoff M, Teletar M, Sanal O, Chessa L, McConville C, Taylor M, Shiloh Y, Porras O, Borresen AL, Wegner RD, Curry C, Gerken S, Lange K, Concannon P. Gatti RA, et al. Among authors: porras o. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S57-62. Int J Radiat Biol. 1994. PMID: 7836853
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: porras o. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767. Hum Mol Genet. 2001. PMID: 11532986
Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.
Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F, et al. Gerritsen EJ, et al. Among authors: porras o, o meara a. J Pediatr. 1994 Dec;125(6 Pt 1):896-902. doi: 10.1016/s0022-3476(05)82004-9. J Pediatr. 1994. PMID: 7996361 Clinical Trial.
83 results