Found: 14

Select item for more details and to access through your institution.

  • Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

    Published in:
    Human Genetics, 2001, v. 108, n. 1, p. 51, doi. 10.1007/s004390000440
    By:
    • Bassi, M. Teresa;
    • Bergen, Arthur A. B.;
    • Bitoun, Pierre;
    • Charles, Stephen J.;
    • Clementi, Maurizio;
    • Gosselin, Richard;
    • Hurst, Jane;
    • Lewis, Richard Alan;
    • Lorenz, Birgit;
    • Meitinger, Thomas;
    • Messiaen, Ludwine;
    • Ramesar, Rajkumar S.;
    • Ballabio, Andrea;
    • Schiaffino, M. Vittoria
    Publication type:
    Article

  • Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
    By:
    • Delahaye, Andrée;
    • Bitoun, Pierre;
    • Drunat, Séverine;
    • Gérard-Blanluet, Marion;
    • Chassaing, Nicolas;
    • Toutain, Annick;
    • Verloes, Alain;
    • Gatelais, Frédérique;
    • Legendre, Marie;
    • Faivre, Laurence;
    • Passemard, Sandrine;
    • Aboura, Azzedine;
    • Kaltenbach, Sophie;
    • Quentin, Samuel;
    • Dupont, Céline;
    • Tabet, Anne-Claude;
    • Amselem, Serge;
    • Elion, Jacques;
    • Gressens, Pierre;
    • Pipiras, Eva
    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

  • Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
    By:
    • Toutain, Annick;
    • Dessay, Benoit;
    • Ronce, Nathalie;
    • Ferrante, Maria-Immacolata;
    • Tranchemontagne, Julie;
    • Newbury-Ecob, Ruth;
    • Wallgren-Pettersson, Carina;
    • Burn, John;
    • Kaplan, Josseline;
    • Rossi, Annick;
    • Russo, Silvia;
    • Walpole, Ian;
    • Hartsfield, James K.;
    • Oyen, Nina;
    • Nemeth, Andrea;
    • Bitoun, Pierre;
    • Trump, Dorothy;
    • Moraine, Claude;
    • Franco, Brunella
    Publication type:
    Article

  • A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

    Published in:
    Nature Genetics, 1998, v. 19, n. 2, p. 167, doi. 10.1038/527
    By:
    • Semina, Elena V.;
    • Ferrell, Robert E.;
    • Mintz-Hittner, Helen A.;
    • Bitoun, Pierre;
    • Alward, Wallace Lee M.;
    • Reiter, Rebecca S.;
    • Funkhauser, Carrie;
    • Daack-Hirsch, Sandra;
    • Murray, Jeffrey C.
    Publication type:
    Article

  • Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

    Published in:
    Human Genetics, 2019, v. 138, n. 8/9, p. 1051, doi. 10.1007/s00439-018-1896-x
    By:
    • Ragge, Nicola;
    • Isidor, Bertrand;
    • Bitoun, Pierre;
    • Odent, Sylvie;
    • Giurgea, Irina;
    • Cogné, Benjamin;
    • Deb, Wallid;
    • Vincent, Marie;
    • Le Gall, Jessica;
    • Morton, Jenny;
    • Lim, Derek;
    • Le Meur, Guylène;
    • Zazo Seco, Celia;
    • Zafeiropoulou, Dimitra;
    • Bax, Dorine;
    • Zwijnenburg, Petra;
    • Arteche, Anara;
    • Swafiri, Saoud Tahsin;
    • Cleaver, Ruth;
    • McEntagart, Meriel
    Publication type:
    Article

  • About the French language breastfeeding literature.

    Published in:
    1996
    By:
    • BITOUN, PIERRE;
    • Bitoun, P
    Publication type:
    letter

  • Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

    Published in:
    Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
    By:
    • Tabet, Anne-Claude;
    • Verloes, Alain;
    • Pilorge, Marion;
    • Delaby, Elsa;
    • Delorme, Richard;
    • Nygren, Gudrun;
    • Devillard, Françoise;
    • Gérard, Marion;
    • Passemard, Sandrine;
    • Héron, Delphine;
    • Siffroi, Jean-Pierre;
    • Jacquette, Aurelia;
    • Delahaye, Andrée;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Aboura, Azzedine;
    • Bitoun, Pierre;
    • Coleman, Mary;
    • Leboyer, Marion;
    • Gillberg, Christopher
    Publication type:
    Article

  • The supplementary motor area modulates interhemispheric interactions during movement preparation.

    Published in:
    Human Brain Mapping, 2019, v. 40, n. 7, p. 2125, doi. 10.1002/hbm.24512
    By:
    • Welniarz, Quentin;
    • Gallea, Cécile;
    • Lamy, Jean‐Charles;
    • Méneret, Aurélie;
    • Popa, Traian;
    • Valabregue, Romain;
    • Béranger, Benoît;
    • Brochard, Vanessa;
    • Flamand‐Roze, Constance;
    • Trouillard, Oriane;
    • Bonnet, Cécilia;
    • Brüggemann, Norbert;
    • Bitoun, Pierre;
    • Degos, Bertrand;
    • Hubsch, Cécile;
    • Hainque, Elodie;
    • Golmard, Jean‐Louis;
    • Vidailhet, Marie;
    • Lehéricy, Stéphane;
    • Dusart, Isabelle
    Publication type:
    Article

  • Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. 832, doi. 10.1002/humu.24371
    By:
    • Solaki, Maria;
    • Baumann, Britta;
    • Reuter, Peggy;
    • Andreasson, Sten;
    • Audo, Isabelle;
    • Ayuso, Carmen;
    • Balousha, Ghassan;
    • Benedicenti, Francesco;
    • Birch, David;
    • Bitoun, Pierre;
    • Blain, Delphine;
    • Bocquet, Beatrice;
    • Branham, Kari;
    • Català‐Mora, Jaume;
    • De Baere, Elfride;
    • Dollfus, Helene;
    • Falana, Mohammed;
    • Giorda, Roberto;
    • Golovleva, Irina;
    • Gottlob, Irene
    Publication type:
    Article

  • Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
    By:
    • Srour, Myriam;
    • Caron, Véronique;
    • Pearson, Toni;
    • Nielsen, Sarah B.;
    • Lévesque, Sébastien;
    • Delrue, Marie‐Ange;
    • Becker, Troy A.;
    • Hamdan, Fadi F.;
    • Kibar, Zoha;
    • Sattler, Shannon G.;
    • Schneider, Michael C.;
    • Bitoun, Pierre;
    • Chassaing, Nicolas;
    • Rosenfeld, Jill A.;
    • Xia, Fan;
    • Desai, Sonal;
    • Roeder, Elizabeth;
    • Kimonis, Virginia;
    • Schneider, Adele;
    • Littlejohn, Rebecca Okashah
    Publication type:
    Article

  • Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
    By:
    • Delahaye, Andrée;
    • Khung-Savatovsky, Suonavy;
    • Aboura, Azzedine;
    • Guimiot, Fabien;
    • Drunat, Séverine;
    • Alessandri, Jean-Luc;
    • Gérard, Marion;
    • Bitoun, Pierre;
    • Boumendil, Julien;
    • Robin, Stéphanie;
    • Huel, Chan;
    • Guilherme, Romain;
    • Serero, Stéphane;
    • Gressens, Pierre;
    • Elion, Jacques;
    • Verloes, Alain;
    • Benzacken, Brigitte;
    • Delezoide, Anne-Lise;
    • Pipiras, Eva
    Publication type:
    Article

  • Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.

    Published in:
    Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173
    By:
    • Denoyelle, Françoise;
    • Weil, Dominique;
    • Maw, Marion A.;
    • Wilcox, Stephen A.;
    • Lench, Nicholas J.;
    • Allen-Powell, Denise R.;
    • Osborn, Amelia H.;
    • Dahl, Hans-Henrik M.;
    • Middleton, Anna;
    • Houseman, Mark J.;
    • Dodé, Catherine;
    • Marlin, Sandrine;
    • Boulila-ElGaïed, Amel;
    • Grati, Mohammed;
    • Ayadi, Hammadi;
    • BenArab, Saïda;
    • Bitoun, Pierre;
    • Lina-Granade, Geneviève;
    • Godet, Jacqueline;
    • Mustapha, Mirna
    Publication type:
    Article

  • Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome.

    Published in:
    PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153757
    By:
    • Ansari, Morad;
    • Rainger, Jacqueline;
    • Hanson, Isabel M.;
    • Williamson, Kathleen A.;
    • Sharkey, Freddie;
    • Harewood, Louise;
    • Sandilands, Angela;
    • Clayton-Smith, Jill;
    • Dollfus, Helene;
    • Bitoun, Pierre;
    • Meire, Francoise;
    • Fantes, Judy;
    • Franco, Brunella;
    • Lorenz, Birgit;
    • Taylor, David S.;
    • Stewart, Fiona;
    • Willoughby, Colin E.;
    • McEntagart, Meriel;
    • Khaw, Peng Tee;
    • Clericuzio, Carol
    Publication type:
    Article