A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India von Piccolo, F., Jeanpierre, M., Leturcq, F., Dodé, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tomé, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C.

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Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease von Heltianu, C, Costache, G, Azibi, K, Poenaru, L, Simionescu, M

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity von Piccolo, F, Chaouch, M, Jeanpierre, M, Romero, N.B, Campbell, K.P, Voit, T, Kaplan, J-C, El Kerch, F, Collin, H, Roberds, S.L, Eymard, B, Fardeau, M, Leturcq, F, Beckmann, J.S, Sefiani, A, Tomé, F.M.S, Azibi, K, Récan, D, Reghis, A, Merlini, L, Beldjord, C, Carrié, A

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Primary adhalinopathy (α-sarcoglycanopathy) : Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy von EYMARD, B, ROMERO, N. B, MERLINI, L, THEMAR-NOËL, C, PENISSON, I, MAYER, M, TANGUY, O, CAMPBELL, K. P, KAPLAN, J. C, TOME, F. M. S, FARDEAU, M, LETURCQ, F, PICCOLO, F, CARRIE, A, JEANPIERRE, M, COLLIN, H, DEBURGRAVE, N, AZIBI, K, CHAOUCH, M

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Association de mutations de deux gènes chez des patientes atteintes d’insuffisance ovarienne primaire von Bouilly, J, Barraud, S, Azibi, K, Beldjord, C, Dode, C, Hecart, A.C, Delemer, B, Young, J, Binart, N

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Insuffisance ovarienne primaire : nouvelle architecture génétique von Bouilly, J., Dr, Beau, I., Dr, Barraud, S, Bernard, V., Dr, Azibi, K., Dr, Fagart, J., Dr, Fèvre, A., Dr, Beldjord, C., Pr, Delemer, B., Pr, Dodé, C., Dr, Young, J., Pr, Binart, N., Dr

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Découverte par Next Generation Sequencing de l’implication de trois nouveaux gènes SOHLH1, FIGLA, LHX8 dans l’insuffisance ovarienne primaire von Beau, I., Dr, Bouilly, J., Dr, Barraud, S., Dr, Azibi, K., Dr, Fevre, A., Dr, Beldjord, C., Pr, Delemer, B., Pr, Dode, C., Dr, Young, J., Pr, Binart, N., Dr

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Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D) von Carrié, A, Piccolo, F, Leturcq, F, de Toma, C, Azibi, K, Beldjord, C, Vallat, J M, Merlini, L, Voit, T, Sewry, C, Urtizberea, J A, Romero, N, Tomé, F M, Fardeau, M, Sunada, Y, Campbell, K P, Kaplan, J C, Jeanpierre, M

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Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12 von Azlbi, Kemal, Bachner, Luclen, S.Beckmann, Jacques, Matsumura, Kllchlro, Hamouda, Elhadl, Chaouch, Mallka, Chaouch, Athmane, Alt-Ouarab, Rachlda, Vlgnal, Alaln, Welssenbach, Jean, Vinet, Marie-Claude, Leturcq, France, Collln, Huguette, M.S.Tomé, Fernando, Reghis, Abderrezak, Fardeau, Michel, P.Campbell, Kevin, Kaplan, Jean-Claude

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Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease von Germain, Dominique P., Salard, Dominique, Fellmann, Florence, Azibi, Kemal, Caillaud, Catherine, Bernard, Marie-Charlotte, Poenaru, Livia

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Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction von Heltianu, Constantina, Costache, Gabriela, Gafencu, Anca, Diaconu, Mihaela, Bodeanu, Mihaela, Cristea, Carmen, Azibi, Kemal, Poenaru, Livia, Simionescu, Maya

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy von Matsumura, Kiichiro, Tomé, Fernando M. S, Collin, Huguette, Azibi, Kemal, Chaouch, Malika, Kaplan, Jean-Claude, Fardeau, Michel, Campbell, Kevin P

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Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa von el Kerch, F, Sefiani, A, Azibi, K, Boutaleb, N, Yahyaoui, M, Bentahila, A, Vinet, M C, Leturcq, F, Bachner, L, Beckmann, J

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From adhalinopathies to alpha-sarcoglycanopathies: An overview von Jeanpierre, M., Carrié, A., Piccolo, F., Leturcq, F., Azibi, K., De Toma, C., Beldjord, C., Merlini, L., Voit, T., Romero, N., Sunada, Y., Tomé, F.M.S., Fardeau, M., Campbell, K.P., Kaplan, J.-C.

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Adhalin gene polymorphism von Allamand, V., Leturcq, F., Piccoto, F., Jeanpierre, M., Azibi, K., Roberds, S.L., Lim, L.E., Campbell, K.P., Beckmann, J.S., Kaplan, J.C.

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Nucleotide sequence of the bla(RTG-2) (CARB-5) gene and phylogeny of a new group of carbenicillinases von Choury, D, Szajnert, M F, Joly-Guillou, M L, Azibi, K, Delpech, M, Paul, G

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Characterization and Nucleotide Sequence of CARB-6, a New Carbenicillin-Hydrolyzing β-Lactamase from Vibrio cholerae von CHOURY, D, AUBERT, G, SZAJNERT, M.-F, AZIBI, K, DELPECH, M, PAUL, G

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Fabry disease: from clinical manifestations to molecular mechanisms von Azibi, K, Heltianu, C, Caillaud, C, Manicom, J, Puech, JP, Kahn, A, Poenaru, L

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Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 von Jung, Daniel, Leturcq, France, Sunada, Yoshihide, Duclos, Franck, Tomé, Fernando M.S., Moomaw, Carolyn, Merlini, Luciano, Azibi, Kemal, Chaouch, Malika, Slaughter, Clive, Fardeau, Michel, Kaplan, Jean-Claude, Campbell, Kevin P.

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Linkage of the gene for cystinosis to markers on the short arm of chromosome 17 von Stephenson, Leah A, Schneider, Jerry A, Mathew, Christopher G, van't Hoff, William, Gahl, William A, Weissenbach, Jean, Town, Margaret M, McDowell, Geraldine A, Polymeropoulos, Mihael H, Farrall, Martin

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