Found: 23

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  • ELN gene triplication responsible for familial supravalvular aortic aneurysm.

    Published in:
    Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
    By:
    • Guemann, Anne-Sophie;
    • Andrieux, Joris;
    • Petit, Florence;
    • Halimi, Emmanuel;
    • Bouquillon, Sonia;
    • Manouvrier-Hanu, Sylvie;
    • Van De Kamp, Jiddeke;
    • Boileau, Catherine;
    • Hanna, Nadine;
    • Jondeau, Guillaume;
    • Vaksmann, Guy;
    • Houfflin-Debarge, Veronique;
    • Holder-Espinasse, Muriel
    Publication type:
    Article

  • Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives.

    Published in:
    Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 1011, doi. 10.1002/jgc4.1153
    By:
    • Geerts‐Crabbé, Laura;
    • Antoine, Pascal;
    • Brugallé, Elodie;
    • Ghoumid, Jamal;
    • Bellengier, Laurence;
    • Edery, Patrick;
    • Heron, Delphine;
    • Manouvrier‐Hanu, Sylvie;
    • Fantini‐Hauwel, Carole
    Publication type:
    Article

  • The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.

    Published in:
    Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 612, doi. 10.1007/s10897-016-0033-z
    By:
    • Geerts, Laura;
    • Fantini-Hauwel, Carole;
    • Brugallé, Elodie;
    • Boute, Odile;
    • Frénois, Frédéric;
    • Defrance, Lydie;
    • Manouvrier-Hanu, Sylvie;
    • Petit, Florence;
    • Antoine, Pascal
    Publication type:
    Article

  • Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.

    Published in:
    Neurogenetics, 2020, v. 21, n. 1, p. 67, doi. 10.1007/s10048-019-00599-w
    By:
    • Smol, Thomas;
    • Thuillier, Caroline;
    • Boudry-Labis, Elise;
    • Dieux-Coeslier, Anne;
    • Duban-Bedu, Bénédicte;
    • Caumes, Roseline;
    • Bouquillon, Sonia;
    • Manouvrier-Hanu, Sylvie;
    • Roche-Lestienne, Catherine;
    • Ghoumid, Jamal
    Publication type:
    Article

  • Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

    Published in:
    Human Molecular Genetics, 2007, v. 16, n. 1, p. 83, doi. 10.1093/hmg/ddl443
    By:
    • Raux, Grégory;
    • Bumsel, Emilie;
    • Hecketsweiler, Bernadette;
    • van Amelsvoort, Therese;
    • Zinkstok, Janneke;
    • Manouvrier-Hanu, Sylvie;
    • Fantini, Carole;
    • Brévière, Georges-Marie M.;
    • Di Rosa, Gabriella;
    • Pustorino, Giuseppina;
    • Vogels, Annick;
    • Swillen, Ann;
    • Legallic, Solenn;
    • Bou, Jacqueline;
    • Opolczynski, Gaelle;
    • Drouin-Garraud, Valérie;
    • Lemarchand, Marie;
    • Philip, Nicole;
    • Gérard-Desplanches, Aude;
    • Carlier, Michèle
    Publication type:
    Article

  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    Publication type:
    Article

  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    Publication type:
    Article

  • Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.

    Published in:
    Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1064, doi. 10.1002/pd.2338
    By:
    • Ghoumid, Jamal;
    • Ansart-Franquet, Hélène;
    • Subtil, Damien;
    • Pasz, Nelly;
    • Devisme, Louise;
    • Amiel, Jeanne;
    • Andrieux, Joris;
    • Manouvrier-Hanu, Sylvie;
    • Holder-Espinasse, Muriel
    Publication type:
    Article

  • Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
    By:
    • Ghoumid, Jamal;
    • Andrieux, Joris;
    • Sablonnière, Bernard;
    • Odent, Sylvie;
    • Philippe, Nathalie;
    • Zanlonghi, Xavier;
    • Saugier-Veber, Pascale;
    • Bardyn, Thomas;
    • Manouvrier-Hanu, Sylvie;
    • Holder-Espinasse, Muriel
    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

  • Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586
    By:
    • Robertson, Stephen P;
    • Thompson, Sarah;
    • Morgan, Timothy;
    • Holder-Espinasse, Muriel;
    • Martinot-Duquenoy, Véronique;
    • Wilkie, Andrew O M;
    • Manouvrier-Hanu, Sylvie
    Publication type:
    Article

  • Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 4, p. 519, doi. 10.1111/cge.13906
    By:
    • Rive Le Gouard, Nicolas;
    • Jacquinet, Adeline;
    • Ruaud, Lyse;
    • Deleersnyder, Hélène;
    • Ageorges, Faustine;
    • Gallard, Jennifer;
    • Lacombe, Didier;
    • Odent, Sylvie;
    • Mikaty, Myriam;
    • Manouvrier‐Hanu, Sylvie;
    • Ghoumid, Jamal;
    • Geneviève, David;
    • Lehman, Natacha;
    • Philip, Nicole;
    • Edery, Patrick;
    • Héron, Delphine;
    • Rastel, Coralie;
    • Chancenotte, Sophie;
    • Thauvin‐Robinet, Christel;
    • Faivre, Laurence
    Publication type:
    Article

  • Executive functioning in adolescents and adults with Silver-Russell syndrome.

    Published in:
    PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0279745
    By:
    • Burgevin, Mélissa;
    • Lacroix, Agnès;
    • Ollivier, Fanny;
    • Bourdet, Karine;
    • Coutant, Régis;
    • Donadille, Bruno;
    • Faivre, Laurence;
    • Manouvrier-Hanu, Sylvie;
    • Petit, Florence;
    • Thauvin-Robinet, Christel;
    • Toutain, Annick;
    • Netchine, Irène;
    • Odent, Sylvie
    Publication type:
    Article

  • Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy.

    Published in:
    Prenatal Diagnosis, 2009, v. 29, n. 2, p. 187, doi. 10.1002/pd.2214
    By:
    • Ansart-Franquet, Hélène;
    • Houfflin-Debarge, Véronique;
    • Ghoumid, Jamal;
    • Pasz, Nelly;
    • Devisme, Louise;
    • Manouvrier-Hanu, Sylvie;
    • Andrieux, Joris;
    • Holder-Espinasse, Muriel
    Publication type:
    Article

  • Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.

    Published in:
    Prenatal Diagnosis, 2006, v. 26, n. 4, p. 340, doi. 10.1002/pd.1412
    By:
    • Levaillant, Jean-Marc;
    • Gérard-Blanluet, Marion;
    • Holder-Espinasse, Muriel;
    • Valat-Rigot, Anne-Sylvie;
    • Devisme, Louise;
    • Cavé, Hélène;
    • Manouvrier-Hanu, Sylvie
    Publication type:
    Article

  • Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25844-5
    By:
    • 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.
    Publication type:
    Article

  • CARD15 mutations in Blau syndrome.

    Published in:
    Nature Genetics, 2001, v. 29, n. 1, p. 19, doi. 10.1038/ng720
    By:
    • Miceli-Richard, Corinne;
    • Lesage, Suzanne;
    • Rybojad, Michel;
    • Prieur, Anne-Marie;
    • Manouvrier-Hanu, Sylvie;
    • Häfner, Renate;
    • Chamaillard, Mathias;
    • Zouali, Habib;
    • Thomas, Gilles;
    • Hugot, Jean-Pierre
    Publication type:
    Article

  • Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

    Published in:
    Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023
    By:
    • Chassaing, Nicolas;
    • Golzio, Christelle;
    • Odent, Sylvie;
    • Lequeux, Léopoldine;
    • Vigouroux, Adeline;
    • Martinovic-Bouriel, Jelena;
    • Tiziano, Francesco Danilo;
    • Masini, Lucia;
    • Piro, Francesca;
    • Maragliano, Giovanna;
    • Delezoide, Anne-Lise;
    • Attié-Bitach, Tania;
    • Manouvrier-Hanu, Sylvie;
    • Etchevers, Heather C.;
    • Calvas, Patrick
    Publication type:
    Article

  • Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.

    Published in:
    Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
    By:
    • Lehalle, Daphné;
    • Gordon, Christopher T.;
    • Oufadem, Myriam;
    • Goudefroye, Géraldine;
    • Boutaud, Lucile;
    • Alessandri, Jean‐Luc;
    • Baena, Neus;
    • Baujat, Geneviève;
    • Baumann, Clarisse;
    • Boute‐Benejean, Odile;
    • Caumes, Roseline;
    • Decaestecker, Charles;
    • Gaillard, Dominique;
    • Goldenberg, Alice;
    • Gonzales, Marie;
    • Holder‐Espinasse, Muriel;
    • Jacquemont, Marie‐Line;
    • Lacombe, Didier;
    • Manouvrier‐Hanu, Sylvie;
    • Marlin, Sandrine
    Publication type:
    Article

  • WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1351, doi. 10.1002/ajmg.a.61177
    By:
    • Brunelle, Perrine;
    • Jourdain, Anne‐Sophie;
    • Escande, Fabienne;
    • Martinovic, Jelena;
    • Dupont, Juliette;
    • Busa, Tiffany;
    • Moncla, Anne;
    • Frénois, Frédéric;
    • Stichelbout, Morgane;
    • Manouvrier‐Hanu, Sylvie;
    • Petit, Florence
    Publication type:
    Article

  • Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2344, doi. 10.1002/ajmg.a.36612
    By:
    • Pingault, Veronique;
    • Pierre‐Louis, Laurence;
    • Chaoui, Asma;
    • Verloes, Alain;
    • Sarrazin, Elisabeth;
    • Brandberg, Goran;
    • Bondurand, Nadege;
    • Uldall, Peter;
    • Manouvrier‐Hanu, Sylvie
    Publication type:
    Article

  • Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 208, doi. 10.1002/ajmg.a.36216
    By:
    • Mesdag, Violette;
    • Andrieux, Joris;
    • Coulon, Capucine;
    • Pennaforte, Thomas;
    • Storme, Laurent;
    • Manouvrier‐Hanu, Sylvie;
    • Petit, Florence
    Publication type:
    Article

  • Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.

    Published in:
    Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832
    By:
    • Petit, Florence;
    • Cuisset, Jean-Marie;
    • Rouaix-Emery, Nathalie;
    • Cancés, Claude;
    • Sablonnière, Bernard;
    • Bieth, Eric;
    • Moerman, Alexandre;
    • Sukno, Sylvie;
    • Hardy, Noah;
    • Holder-Espinasse, Muriel;
    • Manouvrier-Hanu, Sylvie;
    • Vallée, Louis
    Publication type:
    Article