Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 8

Results: 28
    1

    Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2234, doi. 10.1093/hmg/ddt654
    By:
    • Peoc'h, Katell;
    • Levavasseur, Etienne;
    • Delmont, Emilien;
    • De Simone, Alfonso;
    • Laffont-Proust, Isabelle;
    • Privat, Nicolas;
    • Chebaro, Yassmine;
    • Chapuis, Céline;
    • Bedoucha, Pierre;
    • Brandel, Jean-Philippe;
    • Laquerriere, Annie;
    • Kemeny, Jean-Louis;
    • Hauw, Jean-Jacques;
    • Borg, Michel;
    • Rezaei, Human;
    • Derreumaux, Philippe;
    • Laplanche, Jean-Louis;
    • Haïk, Stéphane
    Publication type:
    Article
    2

    Subscription Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. NP, doi. 10.1093/hmg/ddu133
    Publication type:
    Article
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    Contents Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. NP, doi. 10.1093/hmg/ddu130
    Publication type:
    Article
    8
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    Altered regulation of DNA ligase IV activity by aberrant promoter DNA methylation and gene amplification in colorectal cancer.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2043, doi. 10.1093/hmg/ddt599
    By:
    • Kuhmann, Christine;
    • Li, Carmen;
    • Kloor, Matthias;
    • Salou, Mariam;
    • Weigel, Christoph;
    • Schmidt, Christopher R.;
    • Ng, Linda W.C.;
    • Tsui, Wendy W.Y.;
    • Leung, Suet Y.;
    • Yuen, Siu T.;
    • Becker, Natalia;
    • Weichenhan, Dieter;
    • Plass, Christoph;
    • Schmezer, Peter;
    • Chan, Tsun L.;
    • Popanda, Odilia
    Publication type:
    Article
    11

    Editorial Board.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. NP, doi. 10.1093/hmg/ddu132
    Publication type:
    Article
    12

    Patient-specific induced-pluripotent stem cells derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2232, doi. 10.1093/hmg/ddt653
    By:
    • Tse, Hung-Fat;
    • Ho, Jenny C. Y.;
    • Choi, Shing-Wan;
    • Butler, Amy W.;
    • Ng, Kwong-Man;
    • Siu, Chung-Wah;
    • Simpson, Michael A.;
    • Lai, Wing-Hon;
    • Chan, Yau-Chi;
    • Au, Ka-Wing;
    • Zhang, Jinqiu;
    • Lay, Kenneth W. J.;
    • Esteban, Miguel A.;
    • Nicholls, John M.;
    • Alan, Colman;
    • Sham, Pak C.
    Publication type:
    Article
    13

    Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 1957
    By:
    • Gordon, Adam S.;
    • Tabor, Holly K.;
    • Johnson, Andrew D.;
    • Snively, Beverly M.;
    • Assimes, Themistocles L.;
    • Auer, Paul L.;
    • Ioannidis, John P.A.;
    • Peters, Ulrike;
    • Robinson, Jennifer G.;
    • Sucheston, Lara E.;
    • Wang, Danxin;
    • Sotoodehnia, Nona;
    • Rotter, Jerome I.;
    • Psaty, Bruce M.;
    • Jackson, Rebecca D.;
    • Herrington, David M.;
    • O'Donnell, Christopher J.;
    • Reiner, Alexander P.;
    • Rich, Stephen S.;
    • Rieder, Mark J.
    Publication type:
    Article
    14

    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2220
    By:
    • Fogh, Isabella;
    • Ratti, Antonia;
    • Gellera, Cinzia;
    • Lin, Kuang;
    • Tiloca, Cinzia;
    • Moskvina, Valentina;
    • Corrado, Lucia;
    • Sorarù, Gianni;
    • Cereda, Cristina;
    • Corti, Stefania;
    • Gentilini, Davide;
    • Calini, Daniela;
    • Castellotti, Barbara;
    • Mazzini, Letizia;
    • Querin, Giorgia;
    • Gagliardi, Stella;
    • Del Bo, Roberto;
    • Conforti, Francesca L.;
    • Siciliano, Gabriele;
    • Inghilleri, Maurizio
    Publication type:
    Article
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    Hsp90 inhibition protects against inherited retinal degeneration.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2164
    By:
    • Aguilà, Mònica;
    • Bevilacqua, Dalila;
    • McCulley, Caroline;
    • Schwarz, Nele;
    • Athanasiou, Dimitra;
    • Kanuga, Naheed;
    • Novoselov, Sergey S.;
    • Lange, Clemens A.K.;
    • Ali, Robin R.;
    • Bainbridge, James W.;
    • Gias, Carlos;
    • Coffey, Peter J.;
    • Garriga, Pere;
    • Cheetham, Michael E.
    Publication type:
    Article
    19

    Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2005, doi. 10.1093/hmg/ddt596
    By:
    • Lojewski, Xenia;
    • Staropoli, John F.;
    • Biswas-Legrand, Sunita;
    • Simas, Alexandra M.;
    • Haliw, Larissa;
    • Selig, Martin K.;
    • Coppel, Scott H.;
    • Goss, Kendrick A.;
    • Petcherski, Anton;
    • Chandrachud, Uma;
    • Sheridan, Steven D.;
    • Lucente, Diane;
    • Sims, Katherine B.;
    • Gusella, James F.;
    • Sondhi, Dolan;
    • Crystal, Ronald G.;
    • Reinhardt, Peter;
    • Sterneckert, Jared;
    • Schöler, Hans;
    • Haggarty, Stephen J.
    Publication type:
    Article
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    Cover Page.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. NP, doi. 10.1093/hmg/ddu131
    Publication type:
    Article
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    Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2198, doi. 10.1093/hmg/ddt584
    By:
    • Biancolella, Michela;
    • Fortini, Barbara K.;
    • Tring, Stephanie;
    • Plummer, Sarah J.;
    • Mendoza-Fandino, Gustavo A.;
    • Hartiala, Jaana;
    • Hitchler, Michael J.;
    • Yan, Chunli;
    • Schumacher, Fredrick R.;
    • Conti, David V.;
    • Edlund, Christopher K.;
    • Noushmehr, Houtan;
    • Coetzee, Simon G.;
    • Bresalier, Robert S.;
    • Ahnen, Dennis J.;
    • Barry, Elizabeth L.;
    • Berman, Benjamin P.;
    • Rice, Judd C.;
    • Coetzee, Gerhard A.;
    • Casey, Graham
    Publication type:
    Article
    28