Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 4


Results: 14
    1

    Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 716, doi. 10.1093/hmg/ddx437
    By:
    • de Greef, Jessica C.;
    • Krom, Yvonne D.;
    • den Hamer, Bianca;
    • Snider, Lauren;
    • Hiramuki, Yosuke;
    • van den Akker, Rob F. P.;
    • Breslin, Kelsey;
    • Pakusch, Miha;
    • Salvatori, Daniela C. F.;
    • Slutter, Bram;
    • Tawil, Rabi;
    • Blewitt, Marnie E.;
    • Tapscott, Stephen J.;
    • van der Maarel, Silvere M.
    Publication type:
    Article
    2

    CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 706, doi. 10.1093/hmg/ddx436
    By:
    • Brockmann, Sarah J.;
    • Freischmidt, Axel;
    • Oeckl, Patrick;
    • Müller, Kathrin;
    • Ponna, Srinivas K.;
    • Helferich, Anika M.;
    • Paone, Christoph;
    • Reinders, Jörg;
    • Kojer, Kerstin;
    • Orth, Michael;
    • Jokela, Manu;
    • Auranen, Mari;
    • Udd, Bjarne;
    • Hermann, Andreas;
    • Danzer, Karin M.;
    • Lichtner, Peter;
    • Walther, Paul;
    • Ludolph, Albert C.;
    • Andersen, Peter M.;
    • Otto, Markus
    Publication type:
    Article
    3

    A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
    By:
    • Toro, Camilo;
    • Hori, Roderick T.;
    • Malicdan, May Christine V.;
    • Tifft, Cynthia J.;
    • Goldstein, Amy;
    • Gahl, William A.;
    • Adams, David R.;
    • Harper, Fauni;
    • Wolfe, Lynne A.;
    • Jianfeng Xiao;
    • Khan, Mohammad M.;
    • Tian, Jun;
    • Hope, Kevin A.;
    • Reiter, Lawrence T.;
    • Tremblay, Michel G.;
    • Moss, Tom;
    • Franks, Alexis L.;
    • Balak, Chris;
    • LeDoux, Mark S.
    Publication type:
    Article
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    FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
    By:
    • Piard, Juliette;
    • Jia-Hua Hu;
    • Campeau, Philippe M.;
    • Rzońca, Sylwia;
    • Van Esch, Hilde;
    • Vincent, Elizabeth;
    • Mei Han;
    • Rossignol, Elsa;
    • Castaneda, Jennifer;
    • Chelly, Jamel;
    • Skinner, Cindy;
    • Kalscheuer, Vera M.;
    • Ruihua Wang;
    • Lemyre, Emmanuelle;
    • Kosińska, Joanna;
    • Stawinski, Piotr;
    • Bal, Jerzy;
    • Hoffman, Dax A.;
    • Schwartz, Charles E.;
    • Van Maldergem, Lionel
    Publication type:
    Article
    8
    9

    Dietary intervention rescues myopathy associated with neurofibromatosis type 1.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 577, doi. 10.1093/hmg/ddx423
    By:
    • Summers, Matthew A.;
    • Rupasinghe, Thusitha;
    • Vasiljevski, Emily R.;
    • Evesson, Frances J.;
    • Mikulec, Kathy;
    • Peacock, Lauren;
    • Quinlan, Kate G. R.;
    • Cooper, Sandra T.;
    • Roessner, Ute;
    • Stevenson, David A.;
    • Little, David G.;
    • Schindeler, Aaron
    Publication type:
    Article
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    Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 742, doi. 10.1093/hmg/ddx429
    By:
    • Beaumont, Robin N.;
    • Warrington, Nicole M.;
    • Cavadino, Alana;
    • Tyrrell, Jessica;
    • Nodzenski, Michael;
    • Momoko Horikoshi;
    • Geller, Frank;
    • Myhre, Ronny;
    • Richmond, Rebecca C.;
    • Paternoster, Lavinia;
    • Bradfield, Jonathan P.;
    • Kreiner-Møller, Eskil;
    • Huikari, Ville;
    • Metrustry, Sarah;
    • Lunetta, Kathryn L.;
    • Painter, Jodie N.;
    • Hottenga, Jouke-Jan;
    • Allard, Catherine;
    • Barton, Sheila J.;
    • Espinosa, Ana
    Publication type:
    Article