Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 25


Results: 22
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    FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu411
    By:
    • Qibin Qi;
    • Kilpeläinen, Tuomas O.;
    • Downer, Mary K.;
    • Toshiko Tanaka;
    • Smith, Caren E.;
    • Sluijs, Ivonne;
    • Sonestedt, Emily;
    • Chu, Audrey Y.;
    • Renström, Frida;
    • Xiaochen Lin;
    • Ängquist, Lars H.;
    • Huang, Jinyan;
    • Zhonghua Liu;
    • Yanping Li;
    • Ali, Muhammad Asif;
    • Min Xu;
    • Ahluwalia, Tarunveer Singh;
    • Boer, Jolanda M. A.;
    • Peng Chen;
    • Makoto Daimon
    Publication type:
    Article
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    Deactivation of TBP contributes to SCA17 pathogenesis.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu410
    By:
    • Tun-Chieh Hsu;
    • Cheng-Kuang Wang;
    • Chun-Yen Yang;
    • Li-Ching Lee;
    • Hsiu-Mei Hsieh-Li;
    • Long-Sun Ro;
    • Chiung-Mei Chen;
    • Guey-Jen Lee-Chen;
    • Ming-Tsan Su
    Publication type:
    Article
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    p19-INK4d inhibits neuroblastoma cell growth, induces differentiation and is hypermethylated and downregulated in MYCN-amplified neuroblastomas.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu406
    By:
    • Dreidax, Daniel;
    • Bannert, Steffen;
    • Henrich, Kai-Oliver;
    • Schröder, Christina;
    • Bender, Sebastian;
    • Oakes, Christopher C.;
    • Lindner, Sven;
    • Schulte, Johannes H.;
    • Duffy, David;
    • Schwarzl, Thomas;
    • Saadati, Maral;
    • Ehemann, Volker;
    • Benner, Axel;
    • Pfister, Stefan;
    • Fischer, Matthias;
    • Westermann, Frank
    Publication type:
    Article
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    Trans-ethnic meta-analysis of white blood cell phenotypes.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu401
    By:
    • Keller, Margaux F.;
    • Reiner, Alexander P.;
    • Okada, Yukinori;
    • van Rooij, Frank J. A.;
    • Johnson, Andrew D.;
    • Ming-Huei Chen;
    • Smith, Albert V.;
    • Morris, Andrew P.;
    • Toshiko Tanaka;
    • Ferrucci, Luigi;
    • Zonderman, Alan B.;
    • Lettre, Guillaume;
    • Harris, Tamara;
    • Garcia, Melissa;
    • Bandinelli, Stefania;
    • Qayyum, Rehan;
    • Yanek, Lisa R.;
    • Becker, Diane M.;
    • Becker, Lewis C.;
    • Kooperberg, Charles
    Publication type:
    Article
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    Rare mutations associating with serum creatinine and chronic kidney disease.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu399
    By:
    • Sveinbjornsson, Gardar;
    • Mikaelsdottir, Evgenia;
    • Palsson, Runolfur;
    • Indridason, Olafur S.;
    • Holm, Hilma;
    • Jonasdottir, Aslaug;
    • Helgason, Agnar;
    • Sigurdsson, Snaevar;
    • Jonasdottir, Adalbjorg;
    • Sigurdsson, Asgeir;
    • Eyjolfsson, Gudmundur Ingi;
    • Sigurdardottir, Olof;
    • Magnusson, Olafur Th.;
    • Kong, Augustine;
    • Masson, Gisli;
    • Sulem, Patrick;
    • Olafsson, Isleifur;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari
    Publication type:
    Article
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    Analysis of the ABCA4 genomic locus in Stargardt disease.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu396
    By:
    • Zernant, Jana;
    • Yajing (Angela) Xie;
    • Ayuso, Carmen;
    • Riveiro-Alvarez, Rosa;
    • Lopez-Martinez, Miguel-Angel;
    • Simonelli, Francesca;
    • Testa, Francesco;
    • Gorin, Michael B.;
    • Strom, Samuel P.;
    • Bertelsen, Mette;
    • Rosenberg, Thomas;
    • Boone, Philip M.;
    • Bo Yuan;
    • Ayyagari, Radha;
    • Nagy, Peter L.;
    • Tsang, Stephen H.;
    • Gouras, Peter;
    • Collison, Frederick T.;
    • Lupski, James R.;
    • Fishman, Gerald A.
    Publication type:
    Article
    14

    Mutant cohesin drives chromosomal instability in early colorectal adenomas.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu394
    By:
    • Cucco, Francesco;
    • Servadio, Adele;
    • Gatti, Veronica;
    • Bianchi, Paolo;
    • Mannini, Linda;
    • Prodosmo, Andrea;
    • De Vitis, Elisa;
    • Basso, Gianluca;
    • Friuli, Alessandro;
    • Laghi, Luigi;
    • Soddu, Silvia;
    • Fontanini, Gabriella;
    • Musio, Antonio
    Publication type:
    Article
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    Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu392
    By:
    • Paraboschi, Elvezia M.;
    • Rimoldi, Valeria;
    • Soldà, Giulia;
    • Tabaglio, Tommaso;
    • Dall'Osso, Claudia;
    • Saba, Elena;
    • Vigliano, Marco;
    • Salviati, Alessandro;
    • Leone, Maurizio;
    • Benedetti, Maria D.;
    • Fornasari, Diego;
    • Saarela, Janna;
    • De Jager, Philip L.;
    • Patsopoulos, Nikolaos A.;
    • D'Alfonso, Sandra;
    • Gemmati, Donato;
    • Duga, Stefano;
    • Asselta, Rosanna
    Publication type:
    Article
    18

    The small GTPase Rab11 co-localizes with α-synuclein in intracellular inclusions and modulates its aggregation, secretion and toxicity.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu391
    By:
    • Chutna, Oldriska;
    • Gonçalves, Susana;
    • Villar-Piqué, Anna;
    • Guerreiro, Patrícia;
    • Marijanovic, Zrinka;
    • Mendes, Tiago;
    • Ramalho, José;
    • Emmanouilidou, Evangelia;
    • Ventura, Salvador;
    • Klucken, Jochen;
    • Barral, Duarte C.;
    • Giorgini, Flaviano;
    • Vekrellis, Kostas;
    • Outeiro, Tiago F.
    Publication type:
    Article
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    Phosphorylation within the cysteine-rich region of dystrophin enhances its association with β-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu388
    By:
    • Swiderski, Kristy;
    • Shaffer, Scott A.;
    • Gallis, Byron;
    • Odom, Guy L.;
    • Arnett, Andrea L.;
    • Edgar, J. Scott;
    • Baum, Dale M.;
    • Chee, Annabel;
    • Naim, Timur;
    • Gregorevic, Paul;
    • Murphy, Kate T.;
    • Moody, James;
    • Goodlett, David R.;
    • Lynch, Gordon S.;
    • Chamberlain, Jeffrey S.
    Publication type:
    Article
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