Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 3

Results: 12
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    Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease.

    Published in:
    Human Genetics, 2014, v. 133, n. 3, p. 347, doi. 10.1007/s00439-013-1384-2
    By:
    • Teerlink, Craig;
    • Thibodeau, Stephen;
    • McDonnell, Shannon;
    • Schaid, Daniel;
    • Rinckleb, Antje;
    • Maier, Christiane;
    • Vogel, Walther;
    • Cancel-Tassin, Geraldine;
    • Egrot, Christophe;
    • Cussenot, Olivier;
    • Foulkes, William;
    • Giles, Graham;
    • Hopper, John;
    • Severi, Gianluca;
    • Eeles, Ros;
    • Easton, Douglas;
    • Kote-Jarai, Zsofia;
    • Guy, Michelle;
    • Cooney, Kathleen;
    • Ray, Anna
    Publication type:
    Article
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    Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

    Published in:
    Human Genetics, 2014, v. 133, n. 3, p. 331, doi. 10.1007/s00439-013-1381-5
    By:
    • Wang, Feng;
    • Wang, Hui;
    • Tuan, Han-Fang;
    • Nguyen, Duy;
    • Sun, Vincent;
    • Keser, Vafa;
    • Bowne, Sara;
    • Sullivan, Lori;
    • Luo, Hongrong;
    • Zhao, Ling;
    • Wang, Xia;
    • Zaneveld, Jacques;
    • Salvo, Jason;
    • Siddiqui, Sorath;
    • Mao, Louise;
    • Wheaton, Dianna;
    • Birch, David;
    • Branham, Kari;
    • Heckenlively, John;
    • Wen, Cindy
    Publication type:
    Article
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    C5orf42 is the major gene responsible for OFD syndrome type VI.

    Published in:
    Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1
    By:
    • Lopez, Estelle;
    • Thauvin-Robinet, Christel;
    • Reversade, Bruno;
    • Khartoufi, Nadia;
    • Devisme, Louise;
    • Holder, Muriel;
    • Ansart-Franquet, Hélène;
    • Avila, Magali;
    • Lacombe, Didier;
    • Kleinfinger, Pascale;
    • Kaori, Irahara;
    • Takanashi, Jun-Ichi;
    • Merrer, Martine;
    • Martinovic, Jelena;
    • Noël, Catherine;
    • Shboul, Mohammad;
    • Ho, Lena;
    • Güven, Yeliz;
    • Razavi, Ferechté;
    • Burglen, Lydie
    Publication type:
    Article
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    Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

    Published in:
    Human Genetics, 2014, v. 133, n. 3, p. 299, doi. 10.1007/s00439-013-1380-6
    By:
    • Salomon, Julie;
    • Goulet, Olivier;
    • Canioni, Danielle;
    • Brousse, Nicole;
    • Lemale, Julie;
    • Tounian, Patrick;
    • Coulomb, Aurore;
    • Marinier, Evelyne;
    • Hugot, Jean-Pierre;
    • Ruemmele, Frank;
    • Dufier, Jean-Louis;
    • Roche, Olivier;
    • Bodemer, Christine;
    • Colomb, Virginie;
    • Talbotec, Cécile;
    • Lacaille, Florence;
    • Campeotto, Florence;
    • Cerf-Bensussan, Nadine;
    • Janecke, Andreas;
    • Mueller, Thomas
    Publication type:
    Article
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