Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity von Haro, Endika, Petit, Florence, Pira, Charmaine U., Spady, Conor D., Lucas-Toca, Sara, Yorozuya, Lauren I., Gray, Austin L., Escande, Fabienne, Jourdain, Anne-Sophie, Nguyen, Andy, Fellmann, Florence, Good, Jean-Marc, Francannet, Christine, Manouvrier-Hanu, Sylvie, Ros, Marian A., Oberg, Kerby C.

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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome von Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine

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Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss von Vaché, Christel, Baux, David, Bianchi, Julie, Baudoin, Corinne, Faugère, Valérie, Francannet, Christine, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise

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Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth‐defect registries von Laurichesse Delmas, Hélène, Kohler, Monique, Doray, Bérénice, Lémery, Didier, Francannet, Christine, Quistrebert, Jocelyn, Marie, Cécile, Perthus, Isabelle

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A von Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S

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Association between hereditary predisposition to common cancers and congenital multimalformations von Kwiatkowski, Fabrice, Perthus, Isabelle, Uhrhammer, Nancy, Francannet, Christine, Arbre, Marie, Bidet, Yannick, Bignon, Yves‐Jean

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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families von Baujat, Geneviève, Huber, Céline, El Hokayem, Joyce, Caumes, Roseline, Do Ngoc Thanh, Claire, David, Albert, Delezoide, Anne-Lise, Dieux-Coeslier, Anne, Estournet, Brigitte, Francannet, Christine, Kayirangwa, Honorine, Lacaille, Florence, Le Bourgeois, Muriel, Martinovic, Jelena, Salomon, Rémi, Sigaudy, Sabine, Malan, Valérie, Munnich, Arnold, Le Merrer, Martine, Le Quan Sang, Kim Hanh, Cormier-Daire, Valérie

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Prenatal diagnosis of the VACTERL association using routine ultrasound examination von Debost-Legrand, Anne, Goumy, Carole, Laurichesse-Delmas, Hélène, Déchelotte, Pierre, Perthus, Isabelle, Francannet, Christine, Lémery, Didier, Gallot, Denis

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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 von Pebrel-Richard, Céline, Debost-Legrand, Anne, Eymard-Pierre, Eléonore, Greze, Victoria, Kemeny, Stéphan, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Vago, Philippe, Goumy, Carole, Francannet, Christine

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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome von Harbuz, Radu, Lespinasse, James, Boulet, Stéphanie, Francannet, Christine, Creveaux, Isabelle, Benkhelifa, Mariem, Jouk, Pierre-Simon, Lunardi, Joël, Ray, Pierre F.

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Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype von Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline

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Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip von Lévêque, Marianne, Marlin, Sandrine, Jonard, Laurence, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Baulande, Sylvain, Pierron, Denis, Lacombe, Didier, Duriez, Françoise, Francannet, Christine, Mom, Thierry, Journel, Hubert, Catros, Hélène, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Dollfus, Hélène, Eliot, Marie-Madeleine, Faivre, Laurence, Duvillard, Christian, Couderc, Remy, Garabedian, Eréa-Noël, Petit, Christine, Feldmann, Delphine, Denoyelle, Françoise

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Antenatal detection and impact on outcome of congenital diaphragmatic hernia: A 12-year experience in Auvergne (France) von Gallot, Denis, Coste, Karen, Francannet, Christine, Laurichesse, Hélène, Boda, Carole, Ughetto, Sylvie, Vanlieferinghen, Philippe, Scheye, Thierry, Vendittelli, Françoise, Labbe, Andre, Dechelotte, Pierre J., Sapin, Vincent, Lemery, Didier

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Discovering the ANK2‐related autism phenotype von Guissart, Claire, Polge, Anne, Durand, Nelly, Miret, Ania, Lumbroso, Serge, Francannet, Christine, Mouzat, Kevin

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Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft von Chevrier, Cécile, Bahuau, Michel, Perret, Claire, Iovannisci, David M., Nelva, Agnès, Herman, Christine, Vazquez, Marie-Paule, Francannet, Christine, Robert-Gnansia, Elisabeth, Lammer, Edward J., Cordier, Sylvaine

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Mutations in SETD2 cause a novel overgrowth condition von Luscan, Armelle, Laurendeau, Ingrid, Malan, Valérie, Francannet, Christine, Odent, Sylvie, Giuliano, Fabienne, Lacombe, Didier, Touraine, Renaud, Vidaud, Michel, Pasmant, Eric, Cormier-Daire, Valérie

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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness von Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege

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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands von Rocatcher, Aude, Desquiret-Dumas, Valérie, Charif, Majida, Ferré, Marc, Gohier, Philippe, Mirebeau-Prunier, Delphine, Verny, Christophe, Milea, Dan, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia

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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966 von Bergqvist, Christina, Servy, Amandine, Valeyrie-Allanore, Laurence, Ferkal, Salah, Combemale, Patrick, Wolkenstein, Pierre

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing von Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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