24 results for author:"Kaplan J.-C." in Literature citations
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| Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Daoud F., Angeard N., Demerre B., Martie I., Benyaou R., Leturcq F., Cossee M., Deburgrave N., Saillour Y., Tuffery S. et al. Hum. Mol. Genet. 18:3779-3794(2009) · Mapped (67) |
| Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Beroud C., Carrie A., Beldjord C., Deburgrave N., Llense S., Carelle N., Peccate C., Cuisset J.M., Pandit F., Carre-Pigeon F. et al. Neuromuscul. Disord. 14:10-18(2004) · Mapped (67) |
| CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. Keyeux G., Rodas C., Bienvenu T., Garavito P., Vidaud D., Sanchez D., Kaplan J.C., Aristizabal G. Hum. Mutat. 22:259-259(2003) · Mapped (45) |
| A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C., Beldjord C., Kaplan J.-C. Hum. Mutat. 12:213-214(1998) · UniProtKB (1) |
| Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Urtasun M., Saenz A., Roudaut C., Poza J.J., Urtizberea J.A., Cobo A.-M., Richard I., Garcia Bragado F., Leturcq F., Kaplan J.-C. et al. Brain 121:1735-1747(1998) · UniProtKB (1) |
| Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Duclos F., Broux O., Bourg N., Straub V., Feldman G.L., Sunada Y., Lim L.E., Piccolo F., Cutshall S., Gary F. et al. Neuromuscul. Disord. 8:30-38(1998) · UniProtKB (1) |
| A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Dincer P., Leturcq F., Richard I., Piccolo F., Yalnizoglu D., de Toma C., Akcoeren Z., Broux O., Deburgrave N., Brenguier L. et al. Ann. Neurol. 42:222-229(1997) · UniProtKB (1) |
| Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Carrie A., Piccolo F., Leturcq F., de Toma C., Azibi K., Beldjord C., Vallat J.-M., Merlini L., Voit T., Sewry C. et al. J. Med. Genet. 34:470-475(1997) · UniProtKB (1) · Mapped (1) |
| A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Piccolo F., Jeanpierre M., Leturcq F., Dode C., Azibi K., Toutain A., Merlini L., Jarre L., Navarro C., Krishnamoorthy R. et al. Hum. Mol. Genet. 5:2019-2022(1996) · UniProtKB (1) |
| Sequence analysis of the CAG triplet repeats region in the Huntington disease gene (IT15) in several mammalian species. Pecheux C., Gall A.L., Kaplan J.C., Dode C. Ann. Genet. 39:81-86(1996) · UniProtKB (1) |
| Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L., Barreiro C., Kaplan J.-C. Hum. Mutat. 7:376-377(1996) · UniProtKB (1) |
| Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. Jung D., Leturcq F., Sunada Y., Duclos F., Tome F.M., Moomaw C., Merlini L., Azibi K., Chaouch M., Slaughter C. et al. FEBS Lett. 381:15-20(1996) |
| G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. Nafa K., Reghis A., Osmani N., Baghli L., Benabadji M., Kaplan J.-C., Vulliamy T.J., Luzzatto L. Hum. Mol. Genet. 2:81-82(1993) · UniProtKB (1) |
| Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons. Mota Vieira L., Kaplan J.-C., Kahn A., Leroux A. Eur. J. Biochem. 220:729-737(1994) · UniProtKB (1) |
| A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C. Hum. Mutat. 3:395-396(1994) · UniProtKB (1) |
| Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Roberds S.L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R.D., Lim L.E., Lee J.C., Tome F.M.S., Romero N.B. et al. |
| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W. et al. Nature 372:672-676(1994) · UniProtKB (1) |
| Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. Vieira L.M., Kaplan J.-C., Kahn A., Leroux A. Blood 85:2254-2262(1995) · UniProtKB (1) |
| Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Piccolo F., Roberds S.L., Jeanpierre M., Leturcq F., Azibi K., Beldjord C., Carrie A., Recan D., Chaouch M., Reghis A. et al. Nat. Genet. 10:243-245(1995) · UniProtKB (1) |
| A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Sebillon P., Beldjord C., Kaplan J.-C., Brody E., Marie J. Nucleic Acids Res. 23:3419-3425(1995) · UniProtKB (1) |
| The isolation of a human Ig V lambda gene from a recombinant library of chromosome 22 and estimation of its copy number. Anderson M.L.M., Szajnert M.F., Kaplan J.C., McColl L., Young B.D. Nucleic Acids Res. 12:6647-6661(1984) · UniProtKB (2) |
| Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Hugnot J.P., Gilgenkrantz H., Vincent N., Chafey P., Morris G.E., Monaco A.P., Berwald-Netter Y., Koulakoff A., Kaplan J.C., Kahn A. Proc. Natl. Acad. Sci. U.S.A. 89:7506-7510(1992) · UniProtKB (1) |
| Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene. Gilgenkrantz H., Hugnot J.P., Lambert M., Chafey P., Kaplan J.C., Kahn A. J. Biol. Chem. 267:10823-10830(1992) · Mapped (7) |
| A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M. Hum. Mutat. 1:77-78(1992) · UniProtKB (1) |