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Page 1
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Carrié A, et al. Among authors: de toma c. J Med Genet. 1997 Jun;34(6):470-5. doi: 10.1136/jmg.34.6.470. J Med Genet. 1997. PMID: 9192266 Free PMC article.
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Among authors: de toma c. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H. Dinçer P, et al. Among authors: de toma c. Ann Neurol. 1997 Aug;42(2):222-9. doi: 10.1002/ana.410420214. Ann Neurol. 1997. PMID: 9266733
Significant linkage to spondyloarthropathy on 9q31-34.
Miceli-Richard C, Zouali H, Said-Nahal R, Lesage S, Merlin F, De Toma C, Blanche H, Sahbatou M, Dougados M, Thomas G, Breban M, Hugot JP; Groupe Français d'Etude Génétique des Spondylarthropathies. Miceli-Richard C, et al. Among authors: de toma c. Hum Mol Genet. 2004 Aug 1;13(15):1641-8. doi: 10.1093/hmg/ddh179. Hum Mol Genet. 2004. PMID: 15234954
A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs.
Lonjou C, Borot N, Sekula P, Ledger N, Thomas L, Halevy S, Naldi L, Bouwes-Bavinck JN, Sidoroff A, de Toma C, Schumacher M, Roujeau JC, Hovnanian A, Mockenhaupt M; RegiSCAR study group. Lonjou C, et al. Among authors: de toma c. Pharmacogenet Genomics. 2008 Feb;18(2):99-107. doi: 10.1097/FPC.0b013e3282f3ef9c. Pharmacogenet Genomics. 2008. PMID: 18192896
22 results