Found: 14

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  • Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 7, p. 784, doi. 10.1038/ejhg.2012.252
    By:
    • Isidor, Bertrand;
    • Bourdeaut, Franck;
    • Lafon, Delfine;
    • Plessis, Ghislaine;
    • Lacaze, Elodie;
    • Kannengiesser, Caroline;
    • Rossignol, Sylvie;
    • Pichon, Olivier;
    • Briand, Annaig;
    • Martin-Coignard, Dominique;
    • Piccione, Maria;
    • David, Albert;
    • Delattre, Olivier;
    • Jeanpierre, Cécile;
    • Sévenet, Nicolas;
    • Le Caignec, Cédric
    Publication type:
    Article

  • Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

    Published in:
    Birth Defects Research, 2018, v. 110, n. 6, p. 538, doi. 10.1002/bdr2.1191
    By:
    • Bacrot, Séverine;
    • Mechler, Charlotte;
    • Talhi, Naima;
    • Martin-Coignard, Dominique;
    • Roth, Philippe;
    • Michot, Caroline;
    • Ichkou, Amale;
    • Alibeu, Olivier;
    • Nitschke, Patrick;
    • Thomas, Sophie;
    • Vekemans, Michel;
    • Razavi, Férechté;
    • Boutaud, Lucile;
    • Attie-Bitach, Tania
    Publication type:
    Article

  • A new mutation in TP63 is associated with age-related pathology.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1115, doi. 10.1038/sj.ejhg.5201888
    By:
    • Holder-Espinasse, Muriel;
    • Martin-Coignard, Dominique;
    • Escande, Fabienne;
    • Manouvrier-Hanu, Sylvie
    Publication type:
    Article

  • Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
    By:
    • Hichri, Haifa;
    • Stoetzel, Corinne;
    • Laurier, Virginie;
    • Caron, Solenne;
    • Sigaudy, Sabine;
    • Sarda, Pierre;
    • Hamel, Christian;
    • Martin-Coignard, Dominique;
    • Gilles, Morin;
    • Leheup, Bruno;
    • Holder, Mureille;
    • Kaplan, Josseline;
    • Bitoun, Pierre;
    • Lacombe, Didier;
    • Verloes, Alain;
    • Bonneau, Dominique;
    • Perrin-Schmitt, Fabienne;
    • Brandt, Christian;
    • Besancon, Anne-Françoise;
    • Mandel, Jean-Louis
    Publication type:
    Article

  • Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200689
    By:
    • Gerber, Sylvie;
    • Perrault, Isabelle;
    • Hanein, Sylvain;
    • Barbet, Fabienne;
    • Ducroq, Dominique;
    • Ghazi, Imad;
    • Martin-Coignard, Dominique;
    • Leowski, Corinne;
    • Homfray, Tessa;
    • Dufier, Jean-Louis;
    • Munnich, Arnold;
    • Kaplan, Josseline;
    • Rozet, Jean-Michel
    Publication type:
    Article

  • Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
    By:
    • Isidor, ,13Bertrand;
    • Lindenbaum, Pierre;
    • Pichon, Olivier;
    • Bézieau, Stéphane;
    • Dina, Christian;
    • Jacquemont, Sébastien;
    • Martin-Coignard, Dominique;
    • Thauvin-Robinet, Christel;
    • Le Merrer, Martine;
    • Mandel, Jean-Louis;
    • David, Albert;
    • Faivre, Laurence;
    • Cormier-Daire, Valérie;
    • Redon, Richard;
    • Le Caignec, Cédric
    Publication type:
    Article

  • Nephrogenic diabetes insipidus: treat with caution.

    Published in:
    2009
    By:
    • Boussemart, Thierry;
    • Nsota, Jacqueline;
    • Martin–Coignard, Dominique;
    • Champion, Gérard
    Publication type:
    Report

  • Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
    By:
    • Legendre, Marine;
    • Abadie, Véronique;
    • Attié‐Bitach, Tania;
    • Philip, Nicole;
    • Busa, Tiffany;
    • Bonneau, Dominique;
    • Colin, Estelle;
    • Dollfus, Hélène;
    • Lacombe, Didier;
    • Toutain, Annick;
    • Blesson, Sophie;
    • Julia, Sophie;
    • Martin‐Coignard, Dominique;
    • Geneviève, David;
    • Leheup, Bruno;
    • Odent, Sylvie;
    • Jouk, Pierre‐Simon;
    • Mercier, Sandra;
    • Faivre, Laurence;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article

  • Le syndrome de Shwachman-Diamond : à propos d'un cas.

    Published in:
    Annales de Biologie Clinique, 2018, v. 76, n. 4, p. 435, doi. 10.1684/abc.2018.1358
    By:
    • Kaabar, Mohamed;
    • Lemaire, Pierre;
    • Cussac, VincENt;
    • Besancon, Anne;
    • Martin-Coignard, Dominique;
    • FENneteau, Odile;
    • Laribi, Kamel;
    • Pineau-VincENt, FabiENne
    Publication type:
    Article

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

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
    By:
    • Van Kien, Philippe Khau;
    • Baux, David;
    • Pallares-Ruiz, Nathalie;
    • Baudoin, Corinne;
    • Plancke, Aurélie;
    • Chassaing, Nicolas;
    • Collignon, Patrick;
    • Drouin-Garraud, Valérie;
    • Hovnanian, Alain;
    • Martin-Coignard, Dominique;
    • Collod-Béroud, Gwenaëlle;
    • Béroud, Christophe;
    • Roux, Anne-Françoise;
    • Claustres, Mireille
    Publication type:
    Article

  • TCF4 Deletions in Pitt-Hopkins Syndrome.

    Published in:
    Human Mutation, 2008, v. 29, n. 11, p. E242, doi. 10.1002/humu.20859
    By:
    • 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;
    • Moncla, Anne
    Publication type:
    Article

  • Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

    Published in:
    Human Mutation, 2018, v. 39, n. 7, p. 983, doi. 10.1002/humu.23539
    By:
    • Geoffroy, Véronique;
    • Stoetzel, Corinne;
    • Scheidecker, Sophie;
    • Schaefer, Elise;
    • Perrault, Isabelle;
    • Bär, Séverine;
    • Kröll, Ariane;
    • Delbarre, Marion;
    • Antin, Manuela;
    • Leuvrey, Anne‐Sophie;
    • Henry, Charline;
    • Blanché, Hélène;
    • Decker, Eva;
    • Kloth, Katja;
    • Klaus, Günter;
    • Mache, Christoph;
    • Martin‐Coignard, Dominique;
    • McGinn, Steven;
    • Boland, Anne;
    • Deleuze, Jean‐François
    Publication type:
    Article

  • Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
    By:
    • Plaisancié, Julie;
    • Bailleul‐Forestier, Isabelle;
    • Gaston, Véronique;
    • Vaysse, Fréderic;
    • Lacombe, Didier;
    • Holder‐Espinasse, Muriel;
    • Abramowicz, Marc;
    • Coubes, Christine;
    • Plessis, Ghislaine;
    • Faivre, Laurence;
    • Demeer, Bénédicte;
    • Vincent‐Delorme, Catherine;
    • Dollfus, Hélène;
    • Sigaudy, Sabine;
    • Guillén‐Navarro, Encarna;
    • Verloes, Alain;
    • Jonveaux, Philippe;
    • Martin‐Coignard, Dominique;
    • Colin, Estelle;
    • Bieth, Eric
    Publication type:
    Article

  • Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

    Published in:
    Clinical Endocrinology, 2020, v. 93, n. 3, p. 248, doi. 10.1111/cen.14211
    By:
    • Mouly, Céline;
    • Vargas‐Poussou, Rosa;
    • Lienhardt, Anne;
    • Silve, Caroline;
    • Hureaux, Marguerite;
    • Magdelaine, Corinne;
    • Buffet, Alexandre;
    • Grunenwald, Solange;
    • Kuhn, Jean-Marc;
    • Brue, Thierry;
    • Reznik, Yves;
    • Tabarin, Antoine;
    • Martin‐Coignard, Dominique;
    • Haymann, Jean‐Philippe;
    • Tack, Ivan;
    • Bennet, Antoine;
    • Caron, Philippe;
    • Linglart, Agnès;
    • Vezzosi, Delphine
    Publication type:
    Article