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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: robert jj. Diabetes. 2004 Jul;53(7):1876-83. doi: 10.2337/diabetes.53.7.1876. Diabetes. 2004. PMID: 15220213
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Magré J, et al. Among authors: robert jj. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.
Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ. Diatloff-Zito C, et al. Among authors: robert jj. J Med Genet. 2007 Jan;44(1):31-7. doi: 10.1136/jmg.2006.044404. Epub 2006 Sep 13. J Med Genet. 2007. PMID: 16971482 Free PMC article.
216 results