La lipodystrophie congénitale liée à des mutations de la cavine-1/PTRF: activation de l’autophagie et résistance à l’insuline von Salle-teyssieres, L, Auclair, M, Terro, F, Nemani, M, Elsayed, S.M, Délépine, M, Lascols, O, Capeau, J, Magré, J, Vigouroux, C

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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders von Mercati, O, Huguet, G, Danckaert, A, André-Leroux, G, Maruani, A, Bellinzoni, M, Rolland, T, Gouder, L, Mathieu, A, Buratti, J, Amsellem, F, Benabou, M, Van-Gils, J, Beggiato, A, Konyukh, M, Bourgeois, J-P, Gazzellone, M J, Yuen, R K C, Walker, S, Delépine, M, Boland, A, Régnault, B, Francois, M, Van Den Abbeele, T, Mosca-Boidron, A L, Faivre, L, Shimoda, Y, Watanabe, K, Bonneau, D, Rastam, M, Leboyer, M, Scherer, S W, Gillberg, C, Delorme, R, Cloëz-Tayarani, I, Bourgeron, T

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EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome von Delépine, Marc, Nicolino, Marc, Barrett, Timothy, Golamaully, Mahamadee, Mark Lathrop, G., Julier, Cécile

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy von Van Maldergem, L, Magré, J, Khallouf, T E, Gedde-Dahl, T, Delépine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C S, Bonnici, F, Panz, V R, Medina, J-L, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J-J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Mégarbané, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C R, Silveira, E L, D’Abronzo, F H, Grigorescu, F, Lathrop, M, Capeau, J, O’Rahilly, S

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Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 von Magré, Jocelyne, Delépine, Marc, Khallouf, Eliane, Gedde-Dahl, Tobias, Van Maldergem, Lionel, Sobel, Eric, Papp, Jeanette, Meier, Muriel, Mégarbané, André, BSCL Working Group, Lathrop, Mark, Capeau, Jacqueline

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Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10 von Julier, Cécile, Delépine, Marc, Keavney, Bernard, Terwilliger, Joseph, Davis, S., Weeks, Daniel E., Bui, Thuan, Jeunemaître, Xavier, Velho, Gilberto, Froguel, Philippe, Ratcliffe, Peter, Corvol, Pierre, Soubrier, Florent, Mark Lathrop, G.

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A polymorphism in the SOST promoter is associated with SOST expression in human bone and with fracture in osteogenesis imperfecta von Jehan, F, Domingues, A, Delepine, M, Boland, A, Zelznika, D, Hannouche, D, de Vernejoul, M.-C

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O18 L’absence de cavéoline-1 induit la lipodystrophie congénitale de Berardinelli-Seip von Kim, C.A, Delépine, M, Boutet, E, Le Lay, S, Nemani, M, Bridel, E, Semple, R.K, O’Rahilly, S, Dugail, I, Capeau, J, Lathrop, M, Magré, J

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Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus von DE WIT, M. C. Y, DE COO, I. F. M, JULIER, C, DELEPINE, M, LEQUIN, M. H, VAN DE LAAR, I, SIBBLES, B. J, BRUINING, G. J, MANCINI, G. M. S

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Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome llq von Hashimoto, L., Habita, C., Beressi, J. P., Delepine, M., Basse, C., Cambon-Thomsen, A., Deschamps, I., Rotter, J. I., Djoulah, S., James, M. R., Froguel, P., Weissenbach, J., Lathrop, G. M., Julier, C.

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Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6 von DELEPINE, M, POCIOT, F, NERUP, J, LATHROP, M, JULIER, C, HABITA, C, HASHIMOTO, L, FROGUEL, P, ROTTER, J, CAMBON-THOMSEN, A, DESCHAMPS, I, DJOULAH, S, WEISSENBACH, J

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SRPX2 mutations in disorders of language cortex and cognition von Roll, Patrice, Rudolf, Gabrielle, Pereira, Sandrine, Royer, Barbara, Scheffer, Ingrid E., Massacrier, Annick, Valenti, Maria-Paola, Roeckel-Trevisiol, Nathalie, Jamali, Sarah, Beclin, Christophe, Seegmuller, Caroline, Metz-Lutz, Marie-Noëlle, Lemainque, Arnaud, Delepine, Marc, Caloustian, Christophe, Martin, Anne de Saint, Bruneau, Nadine, Depétris, Danièle, Mattéi, Marie-Geneviève, Flori, Elisabeth, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Neubauer, Bernd A., Ravid, Rivka, Marescaux, Christian, Berkovic, Samuel F., Hirsch, Edouard, Lathrop, Mark, Cau, Pierre, Szepetowski, Pierre

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Fine-mapping of an ancestral recombination breakpoint in DCP1 von Farrall, Martin, Keavney, Bernard, McKenzie, Colin, Delépine, Marc, Matsuda, Fumihiko, Lathrop, G. Mark

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Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease von Lambert, J-C, Grenier-Boley, B, Harold, D, Zelenika, D, Chouraki, V, Kamatani, Y, Sleegers, K, Ikram, M A, Hiltunen, M, Reitz, C, Mateo, I, Feulner, T, Bullido, M, Galimberti, D, Concari, L, Alvarez, V, Sims, R, Gerrish, A, Chapman, J, Deniz-Naranjo, C, Solfrizzi, V, Sorbi, S, Arosio, B, Spalletta, G, Siciliano, G, Epelbaum, J, Hannequin, D, Dartigues, J-F, Tzourio, C, Berr, C, Schrijvers, E M C, Rogers, R, Tosto, G, Pasquier, F, Bettens, K, Van Cauwenberghe, C, Fratiglioni, L, Graff, C, Delepine, M, Ferri, R, Reynolds, C A, Lannfelt, L, Ingelsson, M, Prince, J A, Chillotti, C, Pilotto, A, Seripa, D, Boland, A, Mancuso, M, Bossù, P, Annoni, G, Nacmias, B, Bosco, P, Panza, F, Sanchez-Garcia, F, Del Zompo, M, Coto, E, Owen, M, O'Donovan, M, Valdivieso, F, Caffara, P, Scarpini, E, Combarros, O, Buée, L, Campion, D, Soininen, H, Breteler, M, Riemenschneider, M, Van Broeckhoven, C, Alpérovitch, A, Lathrop, M, Trégouët, D-A, Williams, J, Amouyel, P

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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity von SENEE, Valérie, VATTEM, Krishna M, MICHAUD, Jacques L, BIN-ABBAS, Bassan, TAHA, Doris, ZABEL, Bernard, FRANCESCHINI, Piergiorgio, TOPALOGLU, A. Kemal, LATHROP, G. Mark, BARRETT, Timothy G, NICOLINO, Marc, WEK, Ronald C, DELEPINE, Marc, JULIER, Cécile, RAINBOW, Lynn A, HATON, Céline, LECOQ, Annick, SHAW, Nick J, ROBERT, Jean-Jacques, ROOMAN, Raoul, DIATLOFF-ZITO, Catherine

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Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 contr... von Keavney, Bernard, McKenzie, Colin, Parish, Sarah, Palmer, Alison, Clark, Sarah, Youngman, Linda, Delépine, Marc, Lathrop, Mark, Peto, Richard, Collins, Rory

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Mutations activatrices de mTOR en mosaïque dans l’hypomélanose d’Ito avec mégalencéphalie von Vabres, P., Parker, V., Courcet, J.-B., St-Onge, J., Duffourd, Y., Rodriguez, D., Mignot, C., Knox, R., Boland, A., Olaso, R., Delepine, M., Darmency-Stamboul, V., Vincent-Delorme, C., Catteau, B., Guibaud, L., Arzimanoglou, A., Keddar, M., Callier, P., Bessis, D., Geneviève, D., Deleuze, J.-F., Semple, R., Faivre, L., Rivière, J.-B.

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Polymorphisms in Type II SH2 Domain–Containing Inositol 5-Phosphatase (INPPL1, SHIP2) Are Associated With Physiological Abnormalities of the Metabolic Syndrome von KAISAKI, Pamela J, DELEPINE, Marc, SCHURMANS, Stéphane, LEVY, Jonathan C, LATHROP, Mark, FARRALL, Martin, GAUGUIER, Dominique, WORN, Peng Y, SEBAG-MONTEFIORE, Liam, WILDER, Steven P, MENZEL, Stephan, VIONNET, Nathalie, MARION, Evelyne, RIVELINE, Jean-Pierre, CHARPENTIER, Guillaume

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Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease von Lambert, J-c, Grenier-boley, B, Harold, D, Zelenika, D, Chouraki, V, Kamatani, Y, Sleegers, K, Ikram, M A, Hiltunen, M, Reitz, C, Mateo, I, Feulner, T, Bullido, M, Galimberti, D, Concari, L, Alvarez, V, Sims, R, Gerrish, A, Chapman, J, Deniz-naranjo, C, Solfrizzi, V, Sorbi, S, Arosio, B, Spalletta, G, Siciliano, G, Epelbaum, J, Hannequin, D, Dartigues, J-f, Tzourio, C, Berr, C, Schrijvers, E M C, Rogers, R, Tosto, G, Pasquier, F, Bettens, K, Van Cauwenberghe, C, Fratiglioni, L, Graff, C, Delepine, M, Ferri, R, Reynolds, C A, Lannfelt, L, Ingelsson, M, Prince, J A, Chillotti, C, Pilotto, A, Seripa, D, Boland, A, Mancuso, M, Bossù, P, Annoni, G, Nacmias, B, Bosco, P, Panza, F, Sanchez-garcia, F, Zompo, M Del, Coto, E, Owen, M, O'donovan, M, Valdivieso, F, Caffara, P, Scarpini, E, Combarros, O, Buée, L, Campion, D, Soininen, H, Breteler, M, Riemenschneider, M, Van Broeckhoven, C, Alpérovitch, A, Lathrop, M, Trégouët, D-a, Williams, J, Amouyel, P

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Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies von MAGRE, Jocelyne, DELEPINE, Marc, SEEMANOVA, Eva, BUCHANAN, Charles R, LACOMBE, Didier, VIGOUROUX, Corinne, LASCOLS, Olivier, KAHN, C. Ronald, CAPEAU, Jacqueline, LATHROP, Mark, VAN MALDERGEM, Lionel, ROBERT, Jean-Jacques, MAASSEN, J. Antonie, MEIER, Muriel, PANZ, Vanessa R, CHONG AE KIM, TUBIANA-RUFI, Nadia, CZERNICHOW, Paul

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