Resultats de la cerca - François Cartault

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  1. 1
    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome per François Cartault, Patrick Munier, Marie‐Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, J.-M. Laville, Arnold Münnich, Valérie Cormier‐Daire

    Publicat 2014
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  2. 2
    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype per Éric Pasmant, Audrey Sabbagh, Nadine Hanna, Julien Masliah‐Planchon, Emmitt R. Jolly, P. Goussard, P Ballerini, François Cartault, S. Barbarot, Judith Landman‐Parker, Nadem Soufir, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Dominique Vidaud, R N F France

    Publicat 2009
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  3. 3
    Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

    Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients per Isabelle Callebaut, Rozenn Joubrel, Serge Pissard, Caroline Kannengiesser, V. Gérolami, Cécile Ged, E. Cadet, François Cartault, C. Ka, Isabelle Gourlaouen, Lénaïck Gourhant, Claire Oudin, Michel Goossens, Bernard Grandchamp, Hubert de Verneuil, Jacques Rochette, Claude Férec, Gérald Le Gac

    Publicat 2014
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  4. 4
    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island per Alice Hadchouel, Thomas Wieland, Matthias Griese, Enrico Baruffini, Bettina Lorenz‐Depiereux, Laurent Enaud, Elisabeth Graf, J.‐C. Dubus, S. Halioui-Louhaichi, Aurore Coulomb, Christophe Delacourt, Gertrud Eckstein, Ralf Zarbock, Thomas Schwarzmayr, François Cartault, Thomas Meitinger, Tiziana Lodi, J. de Blic, Tim M. Strom

    Publicat 2015
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  5. 5
    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium per José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Mennat Mehrez, Eulalia Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda‐Arenas, Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Publicat 2015
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  6. 6
    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH per Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy

    Publicat 2015
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  7. 7
    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype per Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean‐Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Éric Bieth, Marie Pierre Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne‐Lise Delezoide, Delphine Dupin‐Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin–Coignard, Jéléna Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quēlin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier‐Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou

    Publicat 2015
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  8. 8
    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats per Kaye N. Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz M. Achakzai, Maria João Anjos, Qasim Ayub, Jože Balažič, Jack Ballantyne, David Ballard, Burkhard Berger, Cecilia Bobillo, Mehdi Bouabdellah, Haran Burri, Tomas Capal, Stefano Caratti, Jorge Cárdenas, François Cartault, Elizeu Fagundes de Carvalho, M. Carvalho, Baowen Cheng, Michael D. Coble, David Comas, Daniel Corach, María Eugenia D’Amato, Sean Davison, Peter de Knijff, Maria Corazon A. De Ungria, Ronny Decorte, Tadeusz Dobosz, Berit Myhre Dupuy, Samir Elmrghni, Mateusz Gliwiński, Sara C. Gomes, Laurens J.W. Grol, Cordula Haas, Erin Hanson, Jürgen Henke, Lotte Henke, Fabiola Herrera-Rodríguez, Carolyn R. Hill, Gunilla Holmlund, Katsuya Honda, Uta‐Dorothee Immel, Shota Inokuchi, Mark A. Jobling, Mahmoud Kaddura, Jong S. Kim, Soon H Kim, Wook Kim, Turi King, Eva Klausriegler, Daniel Kling, Lejla Kovačević, Leda Kovatsi, Paweł Krajewski, С. А. Кравченко, Maarten Larmuseau, Eun Young Lee, Р. Лессиг, Л. А. Лившиц, Damir Marjanović, Marek Minárik, Natsuko Mizuno, Helena Moreira, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nie, Premlaphat Nilasitsataporn, Takeki Nishi, Hye Hyun Oh, Jill K. Olofsson, Valerio Onofri, Jukka U. Palo, Horolma Pamjav, Walther Parson, Michal Petlach, Christopher Phillips, Rafał Płoski, Samayamantri P. R. Prasad, Dragan Primorac, Gludhug A. Purnomo, Josephine Purps, Héctor Rangel‐Villalobos, Krzysztof Rębała, Budsaba Rerkamnuaychoke, Danel Rey González, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila, Andrea Sala, Jazelyn M. Salvador, Paula Sanz, Cornelia Schmitt, Añil Sharma, Silva Da, Kyoung‐Jin Shin

    Publicat 2014
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