Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 3

Results: 25
    1
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    Clinical utility gene card for: Retinoblastoma.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.200
    By:
    • Lohmann, Dietmar;
    • Gallie, Brenda;
    • Dommering, Charlotte;
    • Gauthier-Villars, Marion
    Publication type:
    Article
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    An atypical case of hypomethylation at multiple imprinted loci.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
    By:
    • Baple, Emma L.;
    • Poole, Rebecca L.;
    • Mansour, Sahar;
    • Willoughby, Catherine;
    • Temple, I. Karen;
    • Docherty, Louise E.;
    • Taylor, Rohan;
    • Mackay, Deborah J. G.
    Publication type:
    Article
    5
    6

    Phenotypic manifestations of copy number variation in chromosome 16p13.11.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
    By:
    • Nagamani, Sandesh C. Sreenath;
    • Erez, Ayelet;
    • Bader, Patricia;
    • Lalani, Seema R.;
    • Scott, Daryl A.;
    • Scaglia, Fernando;
    • Plon, Sharon E.;
    • Chun-Hui Tsai;
    • Reimschisel, Tyler;
    • Roeder, Elizabeth;
    • Malphrus, Amy D.;
    • Eng, Patricia A.;
    • Hixson, Patricia M.;
    • Kang, Sung-Hae L.;
    • Stankiewicz, Pawel;
    • Patel, Ankita;
    • Sau Wai Cheung
    Publication type:
    Article
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    Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 262, doi. 10.1038/ejhg.2010.201
    By:
    • Tanimura, Daisuke;
    • Shibata, Rei;
    • Izawa, Hideo;
    • Hirashiki, Akihiro;
    • Asano, Hiroyuki;
    • Murase, Yosuke;
    • Miyata, Seiko;
    • Nakatochi, Masahiro;
    • Ouchi, Noriyuki;
    • Ichihara, Sahoko;
    • Yasui, Kenji;
    • Yoshida, Tsutomu;
    • Naruse, Keiko;
    • Matsubara, Tatsuaki;
    • Yokota, Mitsuhiro
    Publication type:
    Article
    13

    The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article
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    LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 326, doi. 10.1038/ejhg.2010.181
    By:
    • Azmanov, Dimitar N.;
    • Dimitrova, Stanislava;
    • Florez, Laura;
    • Cherninkova, Sylvia;
    • Draganov, Dragomir;
    • Morar, Bharti;
    • Saat, Rosmawati;
    • Juan, Manel;
    • Arostegui, Juan I.;
    • Ganguly, Sriparna;
    • Soodyall, Himla;
    • Chakrabarti, Subhabrata;
    • Padh, Harish;
    • López-Nevot, Miguel A;
    • Chernodrinska, Violeta;
    • Anguelov, Botio;
    • Majumder, Partha;
    • Angelova, Lyudmila;
    • Kaneva, Radka;
    • Mackey, David A.
    Publication type:
    Article
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    Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 353, doi. 10.1038/ejhg.2010.180
    By:
    • Napolioni, Valerio;
    • Lombardi, Federica;
    • Sacco, Roberto;
    • Curatolo, Paolo;
    • Manzi, Barbara;
    • Alessandrelli, Riccardo;
    • Militerni, Roberto;
    • Bravaccio, Carmela;
    • Lenti, Carlo;
    • Saccani, Monica;
    • Schneider, Cindy;
    • Melmed, Raun;
    • Pascucci, Tiziana;
    • Puglisi-Allegra, Stefano;
    • Reichelt, Karl-Ludvig;
    • Rousseau, Francis;
    • Lewin, Patricia;
    • Persico, Antonio M.
    Publication type:
    Article
    22

    On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 300, doi. 10.1038/ejhg.2010.203
    By:
    • Hamel, Nancy;
    • Feng, Bing-Jian;
    • Foretova, Lenka;
    • Stoppa-Lyonnet, Dominique;
    • Narod, Steven A;
    • Imyanitov, Evgeny;
    • Sinilnikova, Olga;
    • Tihomirova, Laima;
    • Lubinski, Jan;
    • Gronwald, Jacek;
    • Gorski, Bohdan;
    • Hansen, Thomas v O;
    • Nielsen, Finn C;
    • Thomassen, Mads;
    • Yannoukakos, Drakoulis;
    • Konstantopoulou, Irene;
    • Zajac, Vladimir;
    • Ciernikova, Sona;
    • Couch, Fergus J;
    • Greenwood, Celia M T
    Publication type:
    Article
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    Clinical utility gene card for: hypophosphatasia.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170
    By:
    • Mornet, Etienne;
    • Beck, Christine;
    • Bloch-Zupan, Agnès;
    • Girschick, Hermann;
    • Le Merrer, Martine
    Publication type:
    Article
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