Found: 13

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

  • Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q.

    Published in:
    Journal of Autism & Developmental Disorders, 2007, v. 37, n. 8, p. 1585, doi. 10.1007/s10803-006-0228-5
    By:
    • Cohen, David;
    • Martel, Claire;
    • Wilson, Anna;
    • Déchambre, Nicole;
    • Amy, Céline;
    • Duverger, Ludovic;
    • Guile, Jean-Marc;
    • Pipiras, Eva;
    • Benzacken, Brigitte;
    • Cavé, Hélène;
    • Cohen, Laurent;
    • Héron, Delphine;
    • Plaza, Monique
    Publication type:
    Article

  • Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q.

    Published in:
    2007
    By:
    • Cohen, David;
    • Martel, Claire;
    • Wilson, Anna;
    • Déchambre, Nicole;
    • Amy, Céline;
    • Duverger, Ludovic;
    • Guile, Jean-Marc;
    • Pipiras, Eva;
    • Benzacken, Brigitte;
    • Cavé, Hélène;
    • Cohen, Laurent;
    • Héron, Delphine;
    • Plaza, Monique
    Publication type:
    Correction notice

  • Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
    By:
    • El Khattabi, Laïla;
    • Guimiot, Fabien;
    • Pipiras, Eva;
    • Andrieux, Joris;
    • Baumann, Clarisse;
    • Bouquillon, Sonia;
    • Delezoide, Anne-Lise;
    • Delobel, Bruno;
    • Demurger, Florence;
    • Dessuant, Hélène;
    • Drunat, Séverine;
    • Dubourg, Christelle;
    • Dupont, Céline;
    • Faivre, Laurence;
    • Holder-Espinasse, Muriel;
    • Jaillard, Sylvie;
    • Journel, Hubert;
    • Lyonnet, Stanislas;
    • Malan, Valérie;
    • Masurel, Alice
    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

  • CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200984
    By:
    • Dupont, Celine;
    • Pipiras, Eva;
    • Chantot-Bastaraud, Sandra;
    • Verloes, Alain;
    • Baumann, Clarisse;
    • Wolf, Jean-Philippe;
    • Benzacken, Brigitte
    Publication type:
    Article

  • Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array.

    Published in:
    Fetal Diagnosis & Therapy, 2006, v. 21, n. 6, p. 485, doi. 10.1159/000095658
    By:
    • Delahaye, Andrée;
    • Pipiras, Eva;
    • Delorme-Vincent, Catherine;
    • Benkhalifa, Moncef;
    • Kasakyan, Serdar;
    • Devisme, Louise;
    • Wolf, Jean-Philippe;
    • Benzacken, Brigitte
    Publication type:
    Article

  • New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688
    By:
    • Larcher, Lise;
    • Buratti, Julien;
    • Héron‐Longe, Bénédicte;
    • Benzacken, Brigitte;
    • Pipiras, Eva;
    • Keren, Boris;
    • Delahaye‐Duriez, Andrée
    Publication type:
    Article

  • Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    2019
    By:
    • Tabet, Anne-Claude;
    • Rolland, Thomas;
    • Ducloy, Marie;
    • Lévy, Jonathan;
    • Buratti, Julien;
    • Mathieu, Alexandre;
    • Haye, Damien;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Verloes, Alain;
    • Drunat, Séverine;
    • Keren, Boris;
    • Mignot, Cyril;
    • Marey, Isabelle;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Pipiras, Eva;
    • Benzacken, Brigitte
    Publication type:
    Correction Notice

  • A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
    By:
    • Tabet, Anne-Claude;
    • Rolland, Thomas;
    • Ducloy, Marie;
    • Lévy, Jonathan;
    • Buratti, Julien;
    • Mathieu, Alexandre;
    • Haye, Damien;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Verloes, Alain;
    • Drunat, Séverine;
    • Keren, Boris;
    • Mignot, Cyril;
    • Marey, Isabelle;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Pipiras, Eva;
    • Benzacken, Brigitte
    Publication type:
    Article

  • A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

    Published in:
    NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
    By:
    • Tabet, Anne-Claude;
    • Rolland, Thomas;
    • Ducloy, Marie;
    • Lévy, Jonathan;
    • Buratti, Julien;
    • Mathieu, Alexandre;
    • Haye, Damien;
    • Perrin, Laurence;
    • Dupont, Céline;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Verloes, Alain;
    • Drunat, Séverine;
    • Keren, Boris;
    • Mignot, Cyril;
    • Marey, Isabelle;
    • Jacquette, Aurélia;
    • Whalen, Sandra;
    • Pipiras, Eva;
    • Benzacken, Brigitte
    Publication type:
    Article

  • Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63479
    By:
    • Quilichini, Juliette;
    • Perol, Sandrine;
    • Cuisset, Laurence;
    • Grotto, Sarah;
    • Fouveaut, Corinne;
    • Barbot, Jean Claude;
    • Verebi, Camille;
    • Jordan, Pénélope;
    • Héron, Delphine;
    • Molina‐Gomes, Denise;
    • Pipiras, Eva;
    • Grynberg, Michael;
    • Catteau‐Jonard, Sophie;
    • Touraine, Philippe;
    • Christin‐Maître, Sophie;
    • Plu‐Bureau, Geneviève;
    • El Khattabi, Laila;
    • Bienvenu, Thierry
    Publication type:
    Article

  • Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
    By:
    • Lévy, Jonathan;
    • Coussement, Aurélie;
    • Dupont, Céline;
    • Guimiot, Fabien;
    • Baumann, Clarisse;
    • Viot, Géraldine;
    • Passemard, Sandrine;
    • Capri, Yline;
    • Drunat, Séverine;
    • Verloes, Alain;
    • Pipiras, Eva;
    • Benzacken, Brigitte;
    • Dupont, Jean‐Michel;
    • Tabet, Anne‐Claude
    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