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A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondanéche MC, Fizame C, Ribiérre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL. Altare F, et al. Among authors: seboun e. Am J Hum Genet. 1998 Mar;62(3):723-6. doi: 10.1086/301750. Am J Hum Genet. 1998. PMID: 9497247 Free PMC article. No abstract available.
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.
Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, Pericak-Vance MA, Rimmler JB, Haynes CS, Roses AD, Lee A, Shaner B, Menold M, Seboun E, Fitoussi RP, Gartioux C, Reyes C, Ribierre F, Gyapay G, Weissenbach J, Hauser SL, Goodkin DE, Lincoln R, Usuku K, Oksenberg JR, et al. Haines JL, et al. Among authors: seboun e. Nat Genet. 1996 Aug;13(4):469-71. doi: 10.1038/ng0896-469. Nat Genet. 1996. PMID: 8696344
Linkage analysis of candidate myelin genes in familial multiple sclerosis.
Seboun E, Oksenberg JR, Rombos A, Usuku K, Goodkin DE, Lincoln RR, Wong M, Pham-Dinh D, Boesplug-Tanguy O, Carsique R, Fitoussi R, Gartioux C, Reyes C, Ribierre F, Faure S, Fizames C, Gyapay G, Weissenbach J, Dautigny A, Rimmler JB, Garcia ME, Pericak-Vance MA, Haines JL, Hauser SL. Seboun E, et al. Neurogenetics. 1999 Sep;2(3):155-62. doi: 10.1007/s100480050076. Neurogenetics. 1999. PMID: 10541588
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Belostotsky R, et al. Among authors: seboun e. Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023. Am J Hum Genet. 2010. PMID: 20797690 Free PMC article.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: seboun e. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Among authors: seboun e. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.
29 results