Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 7

Results: 44
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    Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1863, doi. 10.1002/ajmg.a.37653
    By:
    • Hori, Ikumi;
    • Miya, Fuyuki;
    • Ohashi, Kei;
    • Negishi, Yutaka;
    • Hattori, Ayako;
    • Ando, Naoki;
    • Okamoto, Nobuhiko;
    • Kato, Mitsuhiro;
    • Tsunoda, Tatsuhiko;
    • Yamasaki, Mami;
    • Kanemura, Yonehiro;
    • Kosaki, Kenjiro;
    • Saitoh, Shinji
    Publication type:
    Article
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    Respiratory system involvement in Costello syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1849, doi. 10.1002/ajmg.a.37655
    By:
    • Gomez‐Ospina, Natalia;
    • Kuo, Christin;
    • Ananth, Amitha Lakshmi;
    • Myers, Angela;
    • Brennan, Marie‐Luise;
    • Stevenson, David A.;
    • Bernstein, Jonathan A.;
    • Hudgins, Louanne
    Publication type:
    Article
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    In memory of Murray Feingold (1930-2015).

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1727, doi. 10.1002/ajmg.a.37729
    By:
    • Schaefer, G. Bradley;
    • Nowak, Catherine Bearce;
    • Olney, Ann Haskins
    Publication type:
    Article
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    Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1791, doi. 10.1002/ajmg.a.37670
    By:
    • Millan, Francisca;
    • Cho, Megan T.;
    • Retterer, Kyle;
    • Monaghan, Kristin G.;
    • Bai, Renkui;
    • Vitazka, Patrik;
    • Everman, David B.;
    • Smith, Brooke;
    • Angle, Brad;
    • Roberts, Victoria;
    • Immken, LaDonna;
    • Nagakura, Honey;
    • DiFazio, Marc;
    • Sherr, Elliott;
    • Haverfield, Eden;
    • Friedman, Bethany;
    • Telegrafi, Aida;
    • Juusola, Jane;
    • Chung, Wendy K.;
    • Bale, Sherri
    Publication type:
    Article
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    Trisomy 13 and gallbladder agenesis.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1945, doi. 10.1002/ajmg.a.37671
    By:
    • Rosa, Rafael F. M.;
    • Correia, Elisa P. E.;
    • Guimarães, Victória B.;
    • Trombetta, Júlia S.;
    • Beltrão, Luciana A.;
    • Lliguin, Karen L. P.;
    • de Mattos, Vinicius Freitas;
    • Rosa, Rosana C. M.;
    • Zen, Paulo R. G.
    Publication type:
    Article
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    Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1799, doi. 10.1002/ajmg.a.37673
    By:
    • Scalais, Emmanuel;
    • Connerotte, Anne‐Catherine;
    • Despontin, Karine;
    • Biver, Armand;
    • Ceuterick‐de Groote, Chantal;
    • Alders, Marielle;
    • Kolivras, Athanassios;
    • Hachem, Jean‐Pierre;
    • De Meirleir, Linda
    Publication type:
    Article
    35

    Cover Image, Volume 170A, Number 7, July 2016.

    Published in:
    2016
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Other
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    Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Article