Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 2

Results: 22
    1

    Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 208, doi. 10.1038/ejhg.2010.173
    By:
    • Windelinckx, An;
    • De Mars, Gunther;
    • Huygens, Wim;
    • Peeters, Maarten W.;
    • Vincent, Barbara;
    • Wijmenga, Cisca;
    • Lambrechts, Diether;
    • Delecluse, Christophe;
    • Roth, Stephen M.;
    • Metter, E. Jeffrey;
    • Ferrucci, Luigi;
    • Aerssens, Jeroen;
    • Vlietinck, Robert;
    • Beunen, Gaston P.;
    • Thomis, Martine A.
    Publication type:
    Article
    2

    Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
    By:
    • Van den Ouweland, Ans M. W.;
    • Elfferich, Peter;
    • Zonnenberg, Bernard A.;
    • Arts, Willem F.;
    • Kleefstra, Tjitske;
    • Nellist, Mark D.;
    • Millan, Jose M.;
    • Withagen-Hermans, Caroline;
    • Maat-Kievit, Anneke J. A.;
    • Halley, Dicky J. J.
    Publication type:
    Article
    3
    4

    Genomic analysis of partial 21q monosomies with variable phenotypes.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 235, doi. 10.1038/ejhg.2010.150
    By:
    • Roberson, Elisha D. O.;
    • Wohler, Elizabeth Squibb;
    • Hoover-Fong, Julie E.;
    • Lisi, Emily;
    • Stevens, Eric L.;
    • Thomas, George H.;
    • Leonard, Jay;
    • Hamosh, Ada;
    • Pevsner, Jonathan
    Publication type:
    Article
    5
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    8

    Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
    By:
    • Kleefstra, Tjitske;
    • Wortmann, Saskia B;
    • Rodenburg, Richard J. T.;
    • Bongers, Ernie M. H. F.;
    • Hadzsiev, Kinga;
    • Noordam, Cees;
    • Van den Heuvel, Lambert P.;
    • Nillesen, Willy M.;
    • Hollody, Katalin;
    • Gillessen-Kaesbach, Gabrielle;
    • Lammens, Martin;
    • Smeitink, Jan A. M.;
    • Van der Burgt, Ineke;
    • Morava, Eva
    Publication type:
    Article
    9

    The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 224, doi. 10.1038/ejhg.2010.162
    By:
    • Delfin, Frederick;
    • Salvador, Jazelyn M.;
    • Calacal, Gayvelline C.;
    • Perdigon, Henry B.;
    • Tabbada, Kristina A.;
    • Villamor, Lilian P.;
    • Halos, Saturnina C.;
    • Gunnarsdóttir, Ellen;
    • Myles, Sean;
    • Hughes, David A.;
    • Shuhua Xu;
    • Li Jin;
    • Lao, Oscar;
    • Kayser, Manfred;
    • Hurles, Matthew E.;
    • Stoneking, Mark;
    • De Ungria, Maria Corazon A.
    Publication type:
    Article
    10
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    14

    Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
    By:
    • Krumbiegel, Mandy;
    • Pasutto, Francesca;
    • Schlötzer-Schrehardt, Ursula;
    • Uebe, Steffen;
    • Zenkel, Matthias;
    • Mardin, Christian Y.;
    • Weisschuh, Nicole;
    • Paoli, Daniela;
    • Gramer, Eugen;
    • Becker, Christian;
    • Ekici, Arif B.;
    • Weber, Bernhard H. F.;
    • Nürnberg, Peter;
    • Kruse, Friedrich E.;
    • Reis, André
    Publication type:
    Article
    15
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    Reply to He et al.

    Published in:
    2011
    By:
    • García-Villoria, Judit;
    • Gort, Laura;
    • Madrigal, Irene;
    • Fons, Carme;
    • Fernández, Cristina;
    • Navarro-Sastre, Aleix;
    • Mila, M.;
    • Briones, Paz;
    • García-Cazorla, M. Angeles;
    • Campistol, Jaume;
    • Ribes, Antonia
    Publication type:
    Letter
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