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Your search keyword '"Martin-Coignard, Dominique"' showing total 5 results
Start Over Author "Martin-Coignard, Dominique" Publisher hindawi limited
5 results on '"Martin-Coignard, Dominique"'

1. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Author

Geoffroy, Véronique, primary, Stoetzel, Corinne, additional, Scheidecker, Sophie, additional, Schaefer, Elise, additional, Perrault, Isabelle, additional, Bär, Séverine, additional, Kröll, Ariane, additional, Delbarre, Marion, additional, Antin, Manuela, additional, Leuvrey, Anne-Sophie, additional, Henry, Charline, additional, Blanché, Hélène, additional, Decker, Eva, additional, Kloth, Katja, additional, Klaus, Günter, additional, Mache, Christoph, additional, Martin-Coignard, Dominique, additional, McGinn, Steven, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Friant, Sylvie, additional, Saunier, Sophie, additional, Rozet, Jean-Michel, additional, Bergmann, Carsten, additional, Dollfus, Hélène, additional, and Muller, Jean, additional

Published
2018
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2. Mutation Update of theCLCN5Gene Responsible for Dent Disease 1

Author

Mansour-Hendili, Lamisse, primary, Blanchard, Anne, additional, Le Pottier, Nelly, additional, Roncelin, Isabelle, additional, Lourdel, Stéphane, additional, Treard, Cyrielle, additional, González, Wendy, additional, Vergara-Jaque, Ariela, additional, Morin, Gilles, additional, Colin, Estelle, additional, Holder-Espinasse, Muriel, additional, Bacchetta, Justine, additional, Baudouin, Véronique, additional, Benoit, Stéphane, additional, Bérard, Etienne, additional, Bourdat-Michel, Guylhène, additional, Bouchireb, Karim, additional, Burtey, Stéphane, additional, Cailliez, Mathilde, additional, Cardon, Gérard, additional, Cartery, Claire, additional, Champion, Gerard, additional, Chauveau, Dominique, additional, Cochat, Pierre, additional, Dahan, Karin, additional, De la Faille, Renaud, additional, Debray, François-Guillaume, additional, Dehoux, Laurenne, additional, Deschenes, Georges, additional, Desport, Estelle, additional, Devuyst, Olivier, additional, Dieguez, Stella, additional, Emma, Francesco, additional, Fischbach, Michel, additional, Fouque, Denis, additional, Fourcade, Jacques, additional, François, Hélène, additional, Gilbert-Dussardier, Brigitte, additional, Hannedouche, Thierry, additional, Houillier, Pascal, additional, Izzedine, Hassan, additional, Janner, Marco, additional, Karras, Alexandre, additional, Knebelmann, Bertrand, additional, Lavocat, Marie-Pierre, additional, Lemoine, Sandrine, additional, Leroy, Valérie, additional, Loirat, Chantal, additional, Macher, Marie-Alice, additional, Martin-Coignard, Dominique, additional, Morin, Denis, additional, Niaudet, Patrick, additional, Nivet, Hubert, additional, Nobili, François, additional, Novo, Robert, additional, Faivre, Laurence, additional, Rigothier, Claire, additional, Roussey-Kesler, Gwenaëlle, additional, Salomon, Remi, additional, Schleich, Andreas, additional, Sellier-Leclerc, Anne-Laure, additional, Soulami, Kenza, additional, Tiple, Aurélien, additional, Ulinski, Tim, additional, Vanhille, Philippe, additional, Van Regemorter, Nicole, additional, Jeunemaître, Xavier, additional, and Vargas-Poussou, Rosa, additional

Published
2015
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3. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Author

Van Kien, Philippe Khau, primary, Baux, David, additional, Pallares-Ruiz, Nathalie, additional, Baudoin, Corinne, additional, Plancke, Aurélie, additional, Chassaing, Nicolas, additional, Collignon, Patrick, additional, Drouin-Garraud, Valérie, additional, Hovnanian, Alain, additional, Martin-Coignard, Dominique, additional, Collod-Béroud, Gwenaëlle, additional, Béroud, Christophe, additional, Roux, Anne-Françoise, additional, and Claustres, Mireille, additional

Published
2010
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4. TCF4Deletions in Pitt-Hopkins Syndrome

Author

Giurgea, Irina, primary, Missirian, Chantal, additional, Cacciagli, Pierre, additional, Whalen, Sandra, additional, Fredriksen, Tessa, additional, Gaillon, Thierry, additional, Rankin, Julia, additional, Mathieu-Dramard, Michele, additional, Morin, Gilles, additional, Martin-Coignard, Dominique, additional, Dubourg, Christèle, additional, Chabrol, Brigitte, additional, Arfi, Jacqueline, additional, Giuliano, Fabienne, additional, Claude Lambert, Jean, additional, Philip, Nicole, additional, Sarda, Pierre, additional, Villard, Laurent, additional, Goossens, Michel, additional, and Moncla, Anne, additional

Published
2008
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5. TCF4 Deletions in Pitt-Hopkins Syndrome.

Author

Giurgea, Irina, Missirian, Chantal, Cacciagli, Pierre, Whalen, Sandra, Fredriksen, Tessa, Gaillon, Thierry, Rankin, Julia, Mathieu-Dramard, Michele, Morin, Gilles, Martin-Coignard, Dominique, Dubourg, Christèle, Chabrol, Brigitte, Arfi, Jacqueline, Giuliano, Fabienne, Claude Lambert, Jean, Philip, Nicole, Sarda, Pierre, Villard, Laurent, Goossens, Michel, and Moncla, Anne

Abstract

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips). PHS was shown to be caused by de novo heterozygous mutations of the TCF4 gene, located in 18q21. We selected for this study 30 unrelated patients whose phenotype overlapped PHS but which had been initially addressed for Angelman, Mowat-Wilson, or Rett syndromes. In 10 patients we identified nine novel mutations (four large cryptic deletions, including one in mosaic, and five small deletions), and a recurrent one. So far, a total of 20 different TCF4 gene mutations have been reported, most of which either consist in deletion of significant portions of the TCF4 coding sequence, or generate premature stop codons. No obvious departure was observed between the patients harboring point mutations and large deletions at the 18q21 locus, further supporting TCF4 haploinsufficiency as the molecular mechanism underling PHS. In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis. © 2008 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2008
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