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Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C. Senée V, et al. Among authors: delepine m. Diabetes. 2004 Jul;53(7):1876-83. doi: 10.2337/diabetes.53.7.1876. Diabetes. 2004. PMID: 15220213
Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group.
Esposito L, Hill NJ, Pritchard LE, Cucca F, Muxworthy C, Merriman ME, Wilson A, Julier C, Delepine M, Tuomilehto J, Tuomilehto-Wolf E, Ionesco-Tirgoviste C, Nistico' L, Buzzetti R, Pozzilli P, Ferrari M, Bosi E, Pociot F, Nerup J, Bain SC, Todd JA. Esposito L, et al. Among authors: delepine m. Diabetes. 1998 Nov;47(11):1797-9. doi: 10.2337/diabetes.47.11.1797. Diabetes. 1998. PMID: 9792551 No abstract available.
SRPX2 mutations in disorders of language cortex and cognition.
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. Roll P, et al. Among authors: delepine m. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497722
57 results