Found: 6

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  • Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

    Published in:
    2012
    By:
    • Dauber A;
    • Nguyen TT;
    • Sochett E;
    • Cole DE;
    • Horst R;
    • Abrams SA;
    • Carpenter TO;
    • Hirschhorn JN;
    • Dauber, Andrew;
    • Nguyen, Thutrang T;
    • Sochett, Etienne;
    • Cole, David E C;
    • Horst, Ronald;
    • Abrams, Steven A;
    • Carpenter, Thomas O;
    • Hirschhorn, Joel N
    Publication type:
    journal article

  • Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty.

    Published in:
    Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 144, doi. 10.1159/000342212
    By:
    • Silveira-Neto, Acácio P.;
    • Leal, Leticia Ferro;
    • Emerman, Amy B.;
    • Henderson, Katherine D.;
    • Piskounova, Elena;
    • Henderson, Brian E.;
    • Gregory, Richard I.;
    • Silveira, Letícia F. Gontijo;
    • Hirschhorn, Joel N.;
    • Nguyen, Thutrang T.;
    • Beneduzzi, Daiane;
    • Tusset, Cintia;
    • Reis, Ana Claudia S.;
    • Brito, Vinicius N.;
    • Mendonca, Berenice B.;
    • Palmert, Mark R.;
    • Antonini, Sonir R.;
    • Latronico, Ana Claudia
    Publication type:
    Article

  • Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002439
    By:
    • Yingleong Chan;
    • Holmen, Oddgeir L.;
    • Dauber, Andrew;
    • Vatten, Lars;
    • Havulinna, Aki S.;
    • Skorpen, Frank;
    • Kvaløy, Kirsti;
    • Silander, Kaisa;
    • Nguyen, Thutrang T.;
    • Willer, Cristen;
    • Boehnke, Michael;
    • Perola, Markus;
    • Palotie, Aarno;
    • Salomaa, Veikko;
    • Hveem, Kristian;
    • Frayling, Timothy M.;
    • Hirschhorn, Joel N.;
    • Weedon, Michael N.
    Publication type:
    Article

  • Rapid Assessment of Genetic Ancestry in Populations of Unknown Origin by Genome-Wide Genotyping of Pooled Samples.

    Published in:
    PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000866
    By:
    • Chiang, Charleston W. K.;
    • Gajdos, Zofia K. Z.;
    • Korn, Joshua M.;
    • Kuruvilla, Finny G.;
    • Butler, Johannah L.;
    • Hackett, Rachel;
    • Guiducci, Candace;
    • Nguyen, Thutrang T.;
    • Wilks, Rainford;
    • Forrester, Terrence;
    • Haiman, Christopher A.;
    • Henderson, Katherine D.;
    • Le Marchand, Loic;
    • Henderson, Brian E.;
    • Palmert, Mark R.;
    • McKenzie, Colin A.;
    • Lyon, Helen N.;
    • Cooper, Richard S.;
    • Xiaofeng Zhu;
    • Hirschhorn, Joel N.
    Publication type:
    Article

  • Fine mapping of the association with obesity at the FTO locus in African-derived populations.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 14, p. 2907, doi. 10.1093/hmg/ddq178
    By:
    • Hassanein, Mohamed T.;
    • Lyon, Helen N.;
    • Nguyen, Thutrang T.;
    • Akylbekova, Ermeg L.;
    • Waters, Kevin;
    • Lettre, Guillaume;
    • Tayo, Bamidele;
    • Forrester, Terrence;
    • Sarpong, Daniel F.;
    • Stram, Dan O.;
    • Butler, Johannah L.;
    • Wilks, Rainford;
    • Liu, Jiankang;
    • Le Marchand, Loic;
    • Kolonel, Laurence N.;
    • Zhu, Xiaofeng;
    • Henderson, Brian;
    • Cooper, Richard;
    • McKenzie, Colin;
    • Taylor, Herman A.
    Publication type:
    Article

  • Genome-wide association of anthropometric traits in African- and African-derived populations.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 13, p. 2725, doi. 10.1093/hmg/ddq154
    By:
    • Kang, Sun J.;
    • Chiang, Charleston W.K.;
    • Palmer, Cameron D.;
    • Tayo, Bamidele O.;
    • Lettre, Guillaume;
    • Butler, Johannah L.;
    • Hackett, Rachel;
    • Adeyemo, Adebowale A.;
    • Guiducci, Candace;
    • Berzins, Ilze;
    • Nguyen, Thutrang T.;
    • Feng, Tao;
    • Luke, Amy;
    • Shriner, Daniel;
    • Ardlie, Kristin;
    • Rotimi, Charles;
    • Wilks, Rainford;
    • Forrester, Terrence;
    • McKenzie, Colin A.;
    • Lyon, Helen N.
    Publication type:
    Article