Found: 23

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  • Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

    Published in:
    2022
    By:
    • Picard, Jean-Yves;
    • Morin, Gilles;
    • Devouassoux-Shisheboran, Mojgan;
    • Smagt, Jasper Van der;
    • Klosowski, Serge;
    • Pienkowski, Catherine;
    • Pierre-Renoult, Peggy;
    • Masson, Cécile;
    • Bole, Christine;
    • Josso, Nathalie;
    • Van der Smagt, Jasper
    Publication type:
    journal article

  • Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome.

    Published in:
    Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/943905
    By:
    • Jedraszak, Guillaume;
    • Receveur, Aline;
    • Andrieux, Joris;
    • Mathieu-Dramard, Michèle;
    • Copin, Henri;
    • Morin, Gilles
    Publication type:
    Article

  • A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708
    By:
    • Lehmann, Katarina;
    • Seemann, Petra;
    • Boergermann, Jan;
    • Morin, Gilles;
    • Reif, Silke;
    • Knaus, Petra;
    • Mundlos, Stefan
    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

  • Identification of mutations in CUL7 in 3-M syndrome.

    Published in:
    Nature Genetics, 2005, v. 37, n. 10, p. 1119, doi. 10.1038/ng1628
    By:
    • Huber, Céline;
    • Dias-Santagata, Dora;
    • Glaser, Anna;
    • O'Sullivan, James;
    • Brauner, Raja;
    • Wu, Kenneth;
    • Xinsong Xu;
    • Pearce, Kerra;
    • Rong Wang;
    • Uzielli, Maria Luisa Giovannucci;
    • Dagoneau, Nathalie;
    • Chemaitilly, Wassim;
    • Superti-Furga, Andrea;
    • Dos Santos, Heloisa;
    • Mégarbané, André;
    • Morin, Gilles;
    • Gillessen-Kaesbach, Gabriele;
    • Hennekam, Raoul;
    • van der Burgt, Ineke;
    • Black, Graeme C. M.
    Publication type:
    Article

  • Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
    By:
    • Billes, Alexis;
    • Pujalte, Mathilde;
    • Jedraszak, Guillaume;
    • Amsallem, Daniel;
    • Boudry‐Labis, Elise;
    • Boute, Odile;
    • Bouquillon, Sonia;
    • Brischoux‐Boucher, Elise;
    • Callier, Patrick;
    • Coutton, Charles;
    • Denizet, Anne‐Laude Avice;
    • Dieterich, Klaus;
    • Kuentz, Paul;
    • Lespinasse, James;
    • Mazel, Benoît;
    • Morin, Gilles;
    • Amram, Florence;
    • Pennamen, Perrine;
    • Rio, Marlène;
    • Piard, Juliette
    Publication type:
    Article

  • Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
    By:
    • Ranza, Emmanuelle;
    • Guimier, Anne;
    • Verloes, Alain;
    • Capri, Yline;
    • Marques, Charles;
    • Auclair, Martine;
    • Mathieu‐Dramard, Michèle;
    • Morin, Gilles;
    • Thevenon, Julien;
    • Faivre, Laurence;
    • Thauvin‐Robinet, Christel;
    • Innes, A. Micheil;
    • Dyment, David A.;
    • Vigouroux, Corinne;
    • Amiel, Jeanne
    Publication type:
    Article

  • Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

    Published in:
    Prenatal Diagnosis, 2001, v. 21, n. 10, p. 890, doi. 10.1002/pd.175
    By:
    • Morin, Gilles;
    • Gekas, Jean;
    • Naepels, Philippe;
    • Gondry, Jean;
    • Devauchelle, Bernard;
    • Testelin, Sylvie;
    • Sevestre, Henri;
    • Thépôt, François;
    • Mathieu, Michèle
    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

  • Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
    By:
    • Jourdain, Anne‐Sophie;
    • Petit, Florence;
    • Odou, Marie‐Françoise;
    • Balduyck, Malika;
    • Brunelle, Perrine;
    • Dufour, William;
    • Boussion, Simon;
    • Brischoux‐Boucher, Elise;
    • Colson, Cindy;
    • Dieux, Anne;
    • Gérard, Marion;
    • Ghoumid, Jamal;
    • Giuliano, Fabienne;
    • Goldenberg, Alice;
    • Khau Van Kien, Philippe;
    • Lehalle, Daphné;
    • Morin, Gilles;
    • Moutton, Sébastien;
    • Smol, Thomas;
    • Vanlerberghe, Clémence
    Publication type:
    Article

  • Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899
    By:
    • Morin, Gilles;
    • Biancalana, Valérie;
    • Echaniz‐Laguna, Andoni;
    • Noury, Jean‐Baptiste;
    • Lornage, Xavière;
    • Moggio, Maurizio;
    • Ripolone, Michela;
    • Violano, Raffaella;
    • Marcorelles, Pascale;
    • Maréchal, Denis;
    • Renaud, Florence;
    • Maurage, Claude‐Alain;
    • Tard, Céline;
    • Cuisset, Jean‐Marie;
    • Laporte, Jocelyn;
    • Böhm, Johann
    Publication type:
    Article

  • Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

    Published in:
    Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804
    By:
    • Mansour‐Hendili, Lamisse;
    • Blanchard, Anne;
    • Pottier, Nelly;
    • Roncelin, Isabelle;
    • Lourdel, Stéphane;
    • Treard, Cyrielle;
    • González, Wendy;
    • Vergara‐Jaque, Ariela;
    • Morin, Gilles;
    • Colin, Estelle;
    • Holder‐Espinasse, Muriel;
    • Bacchetta, Justine;
    • Baudouin, Véronique;
    • Benoit, Stéphane;
    • Bérard, Etienne;
    • Bourdat‐Michel, Guylhène;
    • Bouchireb, Karim;
    • Burtey, Stéphane;
    • Cailliez, Mathilde;
    • Cardon, Gérard
    Publication type:
    Article

  • Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article

  • Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article

  • Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

    Published in:
    Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012
    By:
    • Daniel, Philip B.;
    • Morgan, Tim;
    • Alanay, Yasemin;
    • Bijlsma, Emilia;
    • Cho, Tae-Joon;
    • Cole, Trevor;
    • Collins, Felicity;
    • David, Albert;
    • Devriendt, Koen;
    • Faivre, Laurence;
    • Ikegawa, Shiro;
    • Jacquemont, Sebastien;
    • Jesic, Milos;
    • Krakow, Deborah;
    • Liebrecht, Daniela;
    • Maitz, Silvia;
    • Marlin, Sandrine;
    • Morin, Gilles;
    • Nishikubo, Toshiya;
    • Nishimura, Gen
    Publication type:
    Article

  • Non- USH2A mutations in USH2 patients.

    Published in:
    Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
    By:
    • Besnard, Thomas;
    • Vaché, Christel;
    • Baux, David;
    • Larrieu, Lise;
    • Abadie, Caroline;
    • Blanchet, Catherine;
    • Odent, Sylvie;
    • Blanchet, Patricia;
    • Calvas, Patrick;
    • Hamel, Christian;
    • Dollfus, Hélène;
    • Lina-Granade, Geneviève;
    • Lespinasse, James;
    • David, Albert;
    • Isidor, Bertrand;
    • Morin, Gilles;
    • Malcolm, Sue;
    • Tuffery-Giraud, Sylvie;
    • Claustres, Mireille;
    • Roux, Anne-Françoise
    Publication type:
    Article

  • Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

    Published in:
    Human Mutation, 2012, v. 33, n. 1, p. 180, doi. 10.1002/humu.21617
    By:
    • Crépin, Michel;
    • Dieu, Marie-Claire;
    • Lejeune, Sophie;
    • Escande, Fabienne;
    • Boidin, Denis;
    • Porchet, Nicole;
    • Morin, Gilles;
    • Manouvrier, Sylvie;
    • Mathieu, Michèle;
    • Buisine, Marie-Pierre
    Publication type:
    Article

  • Life After Parliament: The Role of Associations of Former Parliamentarians.

    Published in:
    Canadian Parliamentary Review, 2015, v. 38, n. 3, p. 4
    By:
    • Asper, Linda;
    • Dionne-Marsolais, Rita;
    • Evans, Clif;
    • Haslam, Karen;
    • Morin, Gilles;
    • Shea, Derwyn;
    • Warner, David
    Publication type:
    Article

  • Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3877, doi. 10.1002/ajmg.a.62448
    By:
    • Jobic, Florence;
    • Lacot‐Leriche, Emilie;
    • Piton, Amélie;
    • Le Moing, Anne‐Gaëlle;
    • Mathieu‐Dramard, Michèle;
    • Costantini, Sara;
    • Morin, Gilles;
    • Jedraszak, Guillaume
    Publication type:
    Article

  • Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2923, doi. 10.1002/ajmg.a.38420
    By:
    • Luisin, Marion;
    • Chevreau, Julien;
    • Klein, Céline;
    • Naepels, Philippe;
    • Demeer, Bénédicte;
    • Mathieu‐Dramard, Michèle;
    • Jedraszak, Guillaume;
    • Gondry‐Jouet, Catherine;
    • Gondry, Jean;
    • Dieux‐Coeslier, Anne;
    • Morin, Gilles
    Publication type:
    Article

  • New intragenic rearrangements in non-Finnish mulibrey nanism.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
    By:
    • Jobic, Florence;
    • Morin, Gilles;
    • Vincent‐Delorme, Catherine;
    • Cadet, Estelle;
    • Cabry, Rosalie;
    • Mathieu‐Dramard, Michèle;
    • Copin, Henri;
    • Rochette, Jacques;
    • Jedraszak, Guillaume
    Publication type:
    Article

  • Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
    By:
    • Jedraszak, Guillaume;
    • Demeer, Bénédicte;
    • Mathieu‐Dramard, Michèle;
    • Andrieux, Joris;
    • Receveur, Aline;
    • Weber, Astrid;
    • Maye, Una;
    • Foulds, Nicola;
    • Temple, IK;
    • Crolla, John;
    • Alex‐Cordier, Marie‐Pierre;
    • Sanlaville, Damien;
    • Ewans, Lisa;
    • Wilson, Meredith;
    • Armstrong, Ruth;
    • Clarkson, Amanda;
    • Copin, Henri;
    • Morin, Gilles
    Publication type:
    Article

  • A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.

    Published in:
    Human Molecular Genetics, 1997, v. 6, n. 13, p. 2317, doi. 10.1093/hmg/6.13.2317
    By:
    • Saunier, Sophie;
    • Calado, Joaquim;
    • Heilig, Roland;
    • Silbermann, Flora;
    • Benessy, France;
    • Morin, Gilles;
    • Konrad, Martin;
    • Broyer, Michel;
    • Gubler, Marie-Claire;
    • Weissenbach, Jean;
    • Antignac, Corinne
    Publication type:
    Article