Works matching IS 10614036 AND DT 2011 AND VI 43 AND IP 1

Results: 21
    1
    2

    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
    By:
    • Dauwerse, Johannes G.;
    • Dixon, Jill;
    • Seland, Saskia;
    • Ruivenkamp, Claudia A. L.;
    • van Haeringen, Arie;
    • Hoefsloot, Lies H.;
    • Peters, Dorien J. M.;
    • Boers, Agnes Clement-de;
    • Daumer-Haas, Cornelia;
    • Maiwald, Robert;
    • Zweier, Christiane;
    • Kerr, Bronwyn;
    • Cobo, Ana M.;
    • Toral, Joaquín F.;
    • Hoogeboom, A. Jeannette M.;
    • Lohmann, Dietmar R.;
    • Hehr, Ute;
    • Dixon, Michael J.;
    • Breuning, Martijn H.;
    • Wieczorek, Dagmar
    Publication type:
    Article
    3

    Continuous cell supply from a Sox9-expressing progenitor zone in adult liver, exocrine pancreas and intestine.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 34, doi. 10.1038/ng.722
    By:
    • Furuyama, Kenichiro;
    • Kawaguchi, Yoshiya;
    • Akiyama, Haruhiko;
    • Horiguchi, Masashi;
    • Kodama, Sota;
    • Kuhara, Takeshi;
    • Hosokawa, Shinichi;
    • Elbahrawy, Ashraf;
    • Soeda, Tsunemitsu;
    • Koizumi, Masayuki;
    • Masui, Toshihiko;
    • Kawaguchi, Michiya;
    • Takaori, Kyoichi;
    • Doi, Ryuichiro;
    • Nishi, Eiichiro;
    • Kakinoki, Ryosuke;
    • Deng, Jian Min;
    • Behringer, Richard R;
    • Nakamura, Takashi;
    • Uemoto, Shinji
    Publication type:
    Article
    4

    Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 51, doi. 10.1038/ng.731
    By:
    • Painter, Jodie N.;
    • Anderson, Carl A.;
    • Nyholt, Dale R.;
    • Macgregor, Stuart;
    • Jianghai Lin;
    • Sang Hong Lee;
    • Lambert, Ann;
    • Zhao, Zhen Z.;
    • Roseman, Fenella;
    • Qun Guo;
    • Gordon, Scott D.;
    • Wallace, Leanne;
    • Henders, Anjali K.;
    • Visscher, Peter M.;
    • Kraft, Peter;
    • Martin, Nicholas G.;
    • Morris, Andrew P.;
    • Treloar, Susan A.;
    • Kennedy, Stephen H.;
    • Missmer, Stacey A.
    Publication type:
    Article
    5

    Common variants in DGKK are strongly associated with risk of hypospadias.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 48, doi. 10.1038/ng.721
    By:
    • van der Zanden, Loes F. M.;
    • van Rooij, Iris A. L. M.;
    • Feitz, Wout F. J.;
    • Knight, Jo;
    • Donders, A Rogier T.;
    • Renkema, Kirsten Y.;
    • Bongers, Ernie M. H. F.;
    • Vermeulen, Sita H. H. M.;
    • Kiemeney, Lambertus A. L. M.;
    • Veltman, Joris A.;
    • Arias-Vásquez, Alejandro;
    • Xufeng Zhang;
    • Markljung, Ellen;
    • Liang Qiao;
    • Baskin, Laurence S.;
    • Nordenskjöld, Agneta;
    • Roeleveld, Nel;
    • Franke, Barbara;
    • Knoers, Nine V. A. M.
    Publication type:
    Article
    6
    7

    Research highlights.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 15, doi. 10.1038/ng0111-15
    Publication type:
    Article
    8
    9

    Common variants in P2RY11 are associated with narcolepsy.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 66, doi. 10.1038/ng.734
    By:
    • Kornum, Birgitte R.;
    • Kawashima, Minae;
    • Faraco, Juliette;
    • Ling Lin;
    • Rico, Thomas J.;
    • Hesselson, Stephanie;
    • Axtell, Robert C.;
    • Kuipers, Hedwich;
    • Weiner, Karin;
    • Hamacher, Alexandra;
    • Kassack, Matthias U.;
    • Fang Han;
    • Knudsen, Stine;
    • Jing Li;
    • Xiaosong Dong;
    • Winkelmann8,9,10, Juliane;
    • Plazzi, Giuseppe;
    • Nevsimalova, Sona;
    • Seung-Chul Hong;
    • Honda, Yutaka
    Publication type:
    Article
    10

    Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 60, doi. 10.1038/ng.723
    By:
    • Purdue, Mark P.;
    • Johansson, Mattias;
    • Zelenika, Diana;
    • Toro, Jorge R.;
    • Scelo, Ghislaine;
    • Moore, Lee E.;
    • Prokhortchouk, Egor;
    • Xifeng Wu;
    • Kiemeney, Lambertus A.;
    • Gaborieau, Valerie;
    • Jacobs, Kevin B.;
    • Wong-Ho Chow;
    • Zaridze, David;
    • Matveev, Vsevolod;
    • Lubinski, Jan;
    • Trubicka, Joanna;
    • Szeszenia-Dabrowska, Neonila;
    • Lissowska, Jolanta;
    • Rudnai, Péter;
    • Fabianova, Eleonora
    Publication type:
    Article
    11
    12

    Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 17, doi. 10.1038/ng.728
    By:
    • Melum, Espen;
    • Franke, Andre;
    • Schramm, Christoph;
    • Weismüller, Tobias J.;
    • Gotthardt, Daniel Nils;
    • Offner, Felix A.;
    • Juran, Brian D.;
    • Laerdahl, Jon K.;
    • Labi, Verena;
    • Björnsson, Einar;
    • Weersma, Rinse K.;
    • Henckaerts, Liesbet;
    • Teufel, Andreas;
    • Rust, Christian;
    • Ellinghaus, Eva;
    • Balschun, Tobias;
    • Boberg, Kirsten Muri;
    • Ellinghaus, David;
    • Bergquist, Annika;
    • Sauer, Peter
    Publication type:
    Article
    13

    CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 23, doi. 10.1038/ng.725
    By:
    • Kalay, Ersan;
    • Yigit, Gökhan;
    • Aslan, Yakup;
    • Brown, Karen E.;
    • Pohl, Esther;
    • Bicknell, Louise S.;
    • Kayserili, Hülya;
    • Yun Li;
    • Tüysüz, Beyhan;
    • Nürnberg, Gudrun;
    • Kiess, Wieland;
    • Koegl, Manfred;
    • Baessmann, Ingelore;
    • Buruk, Kurtulus;
    • Toraman, Bayram;
    • Kayipmaz, Saadettin;
    • Kul, Sibel;
    • Ikbal, Mevlit;
    • Turner, Daniel J.;
    • Taylor, Martin S.
    Publication type:
    Article
    14

    CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 72, doi. 10.1038/ng.726
    By:
    • Merveille, Anne-Christine;
    • Davis, Erica E.;
    • Becker-Heck, Anita;
    • Legendre, Marie;
    • Amirav, Israel;
    • Bataille, Géraldine;
    • Belmont, John;
    • Beydon, Nicole;
    • Billen, Frédéric;
    • Clément, Annick;
    • Clercx, Cécile;
    • Coste, André;
    • Crosbie, Rachelle;
    • de Blic, Jacques;
    • Deleuze, Stephane;
    • Duquesnoy, Philippe;
    • Escalier, Denise;
    • Escudier, Estelle;
    • Fliegauf, Manfred;
    • Horvath, Judith
    Publication type:
    Article
    15
    16

    Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 43, doi. 10.1038/ng.733
    By:
    • Momozawa, Yukihide;
    • Mni, Myriam;
    • Nakamura, Kayo;
    • Coppieters, Wouter;
    • Almer, Sven;
    • Amininejad, Leila;
    • Cleynen, Isabelle;
    • Colombel, Jean-Frédéric;
    • de Rijk, Peter;
    • Dewit, Olivier;
    • Finkel, Yigael;
    • Gassull, Miquel A.;
    • Goossens, Dirk;
    • Laukens, Debby;
    • Lémann, Marc;
    • Libioulle, Cécile;
    • O'Morain, Colm;
    • Reenaers, Catherine;
    • Rutgeerts, Paul;
    • Tysk, Curt
    Publication type:
    Article
    17

    The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 79, doi. 10.1038/ng.727
    By:
    • Becker-Heck, Anita;
    • Zohn, Irene E.;
    • Okabe, Noriko;
    • Pollock, Andrew;
    • Lenhart, Kari Baker;
    • Sullivan-Brown, Jessica;
    • McSheene, Jason;
    • Loges, Niki T.;
    • Olbrich, Heike;
    • Haeffner, Karsten;
    • Fliegauf, Manfred;
    • Horvath, Judith;
    • Reinhardt, Richard;
    • Nielsen, Kim G.;
    • Marthin, June K.;
    • Baktai, Gyorgy;
    • Anderson, Kathryn V.;
    • Geisler, Robert;
    • Niswander, Lee;
    • Omran, Heymut
    Publication type:
    Article
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