Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 8

Results: 50
    1

    Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2043, doi. 10.1002/ajmg.a.36559
    By:
    • Fernández‐Jaén, Alberto;
    • Castellanos, María del Carmen;
    • Fernández‐Perrone, Ana Laura;
    • Fernández‐Mayoralas, Daniel Martín;
    • de la Vega, Alberto González;
    • Calleja‐Pérez, Beatriz;
    • Fernández, Ester Corbacho;
    • Albert, Jacobo;
    • Hombre, María Carmen Sánchez
    Publication type:
    Article
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    Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1991, doi. 10.1002/ajmg.a.36602
    By:
    • Mignon‐Ravix, Cécile;
    • Cacciagli, Pierre;
    • Choucair, Nancy;
    • Popovici, Cornel;
    • Missirian, Chantal;
    • Milh, Mathieu;
    • Mégarbané, André;
    • Busa, Tiffany;
    • Julia, Sophie;
    • Girard, Nadine;
    • Badens, Catherine;
    • Sigaudy, Sabine;
    • Philip, Nicole;
    • Villard, Laurent
    Publication type:
    Article
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    Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2013, doi. 10.1002/ajmg.a.36606
    By:
    • Szafranski, Przemyslaw;
    • Dharmadhikari, Avinash V.;
    • Wambach, Jennifer A.;
    • Towe, Chris T.;
    • White, Frances V.;
    • Grady, R. Mark;
    • Eghtesady, Pirooz;
    • Cole, F. Sessions;
    • Deutsch, Gail;
    • Sen, Partha;
    • Stankiewicz, Paweł
    Publication type:
    Article
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    New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1965, doi. 10.1002/ajmg.a.36587
    By:
    • Vuillaume, Marie‐Laure;
    • Naudion, Sophie;
    • Banneau, Guillaume;
    • Diene, Gwenaelle;
    • Cartault, Audrey;
    • Cailley, Dorothée;
    • Bouron, Julie;
    • Toutain, Jérôme;
    • Bourrouillou, Georges;
    • Vigouroux, Adeline;
    • Bouneau, Laurence;
    • Nacka, Fabienne;
    • Kieffer, Isabelle;
    • Arveiler, Benoit;
    • Knoll‐Gellida, Anja;
    • Babin, Patrick J.;
    • Bieth, Eric;
    • Jouret, Béatrice;
    • Julia, Sophie;
    • Sarda, Pierre
    Publication type:
    Article
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    Self-concept in children with Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1891, doi. 10.1002/ajmg.a.36597
    By:
    • Saha, Sayoni;
    • Doran, Eric;
    • Osann, Kathryn E.;
    • Hom, Christy;
    • Movsesyan, Nina;
    • Rosa, Diana D.;
    • Tournay, Anne;
    • Lott, Ira T.
    Publication type:
    Article
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    Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36570
    By:
    • Di Benedetto, Daniela;
    • Musumeci, Sebastiano Antonino;
    • Avola, Emanuela;
    • Alberti, Antonino;
    • Buono, Serafino;
    • Scuderi, Carmela;
    • Grillo, Lucia;
    • Galesi, Ornella;
    • Spalletta, Angela;
    • Giudice, Mariangela Lo;
    • Luciano, Daniela;
    • Vinci, Mirella;
    • Bianca, Sebastiano;
    • Romano, Corrado;
    • Fichera, Marco
    Publication type:
    Article
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    The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1899, doi. 10.1002/ajmg.a.36551
    By:
    • Yamada, Yasukazu;
    • Nomura, Noriko;
    • Yamada, Kenichiro;
    • Matsuo, Mari;
    • Suzuki, Yuka;
    • Sameshima, Kiyoko;
    • Kimura, Reiko;
    • Yamamoto, Yuto;
    • Fukushi, Daisuke;
    • Fukuhara, Yayoi;
    • Ishihara, Naoko;
    • Nishi, Eriko;
    • Imataka, George;
    • Suzumura, Hiroshi;
    • Hamano, Shin‐Ichiro;
    • Shimizu, Kenji;
    • Iwakoshi, Mie;
    • Ohama, Kazunori;
    • Ohta, Akira;
    • Wakamoto, Hiroyuki
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. xii, doi. 10.1002/ajmg.a.36676
    Publication type:
    Article
    47

    Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1953, doi. 10.1002/ajmg.a.36584
    By:
    • Giugliani, Roberto;
    • Lampe, Christina;
    • Guffon, Nathalie;
    • Ketteridge, David;
    • Leão‐Teles, Elisa;
    • Wraith, James E.;
    • Jones, Simon A.;
    • Piscia‐Nichols, Cheri;
    • Lin, Ping;
    • Quartel, Adrian;
    • Harmatz, Paul
    Publication type:
    Article
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