Works matching IS 10184813 AND DT 2008 AND VI 16

Results: 230
    1

    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
    By:
    • Bonaglia, Maria Clara;
    • Ciccone, Roberto;
    • Gimelli, Giorgio;
    • Gimelli, Stefania;
    • Marelli, Susan;
    • Verheij, Joke;
    • Giorda, Roberto;
    • Grasso, Rita;
    • Borgatti, Renato;
    • Pagone, Filomena;
    • Rodrìguez, Laura;
    • Martinez-Frias, Maria-Luisa;
    • van Ravenswaaij, Conny;
    • Zuffardi, Orsetta
    Publication type:
    Article
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    Deciphering the genetics of hereditary non-syndromic colorectal cancer.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1477, doi. 10.1038/ejhg.2008.129
    By:
    • Papaemmanuil, Eli;
    • Carvajal-Carmona, Luis;
    • Sellick, Gabrielle S.;
    • Kemp, Zoe;
    • Webb, Emily;
    • Spain, Sarah;
    • Sullivan, Kate;
    • Barclay, Ella;
    • Lubbe, Steven;
    • Jaeger, Emma;
    • Vijayakrishnan, Jayaram;
    • Broderick, Peter;
    • Gorman, Maggie;
    • Martin, Lynn;
    • Lucassen, Anneke;
    • Bishop, D. Timothy;
    • Evans, D. Gareth;
    • Maher, Eamonn R.;
    • Steinke, Verena;
    • Rahner, Nils
    Publication type:
    Article
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    Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1512, doi. 10.1038/ejhg.2008.127
    By:
    • Grisoni, Marie-Lise;
    • Proust, Carole;
    • Alanne, Mervi;
    • DeSuremain, Maylis;
    • Salomaa, Veikko;
    • Kuulasmaa, Kari;
    • Cambien, François;
    • Nicaud, Viviane;
    • Stegmayr, Birgitta;
    • Virtamo, Jarmo;
    • Shields, Denis;
    • Kee, Frank;
    • Tiret, Laurence;
    • Evans, Alun;
    • Tregouet, David-Alexandre
    Publication type:
    Article
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    Testing replication of a 5-SNP set for general cognitive ability in six population samples.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1388, doi. 10.1038/ejhg.2008.100
    By:
    • Luciano, Michelle;
    • Lind, Penelope A.;
    • Deary, Ian J.;
    • Payton, Antony;
    • Posthuma, Danielle;
    • Butcher, Lee M.;
    • Bochdanovits, Zoltan;
    • Whalley, Lawrence J.;
    • Visscher, Peter M.;
    • Harris, Sarah E.;
    • Polderman, Tinca J. C.;
    • Davis, Oliver S. P.;
    • Wright, Margaret J.;
    • Starr, John M.;
    • de Geus, Eco J. C.;
    • Bates, Timothy C.;
    • Montgomery, Grant W.;
    • Boomsma, Dorret I.;
    • Martin, Nicholas G.;
    • Plomin, Robert
    Publication type:
    Article
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    Investigation of the fine structure of European populations with applications to disease association studies.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1413, doi. 10.1038/ejhg.2008.210
    By:
    • Heath, Simon C.;
    • Gut, Ivo G.;
    • Brennan, Paul;
    • McKay, James D.;
    • Bencko, Vladimir;
    • Fabianova, Eleonora;
    • Foretova, Lenka;
    • Georges, Michel;
    • Janout, Vladimir;
    • Kabesch, Michael;
    • Krokan, Hans E.;
    • Elvestad, Maiken B.;
    • Lissowska, Jolanta;
    • Mates, Dana;
    • Rudnai, Peter;
    • Skorpen, Frank;
    • Schreiber, Stefan;
    • Soria, José M.;
    • Syvänen, Ann-Christine;
    • Meneton, Pierre
    Publication type:
    Article
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    Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1404, doi. 10.1038/ejhg.2008.135
    By:
    • van Gijn, Marielle E.;
    • Soler, Stéphan;
    • de la Chapelle, Claire;
    • Mulder, Marcel;
    • Ritorre, Cécile;
    • Kriek, Marjolein;
    • Philibert, Laurent;
    • van der Wielen, Michiel;
    • Frenkel, Joost;
    • Grandemange, Sylvie;
    • Bakker, Egbert;
    • van Amstel, Johannes K. Ploos;
    • Touitou, Isabelle
    Publication type:
    Article
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    PTEN hamartoma tumor syndromes.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1289, doi. 10.1038/ejhg.2008.162
    By:
    • Blumenthal, Gideon M.;
    • Dennis, Phillip A.
    Publication type:
    Article
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    Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1275, doi. 10.1038/ejhg.2008.76
    By:
    • Puri, Vinay;
    • McQuillin, Andrew;
    • Datta, Susmita;
    • Choudhury, Khalid;
    • Pimm, Jonathan;
    • Thirumalai, Srinivasa;
    • Krasucki, Robert;
    • Lawrence, Jacob;
    • Quested, Digby;
    • Bass, Nicholas;
    • Crombie, Caroline;
    • Fraser, Gillian;
    • Walker, Nicholas;
    • Moorey, Helen;
    • Ray, Manaan Kar;
    • Sule, Akeem;
    • Curtis, David;
    • St Clair, David;
    • Gurling, Hugh
    Publication type:
    Article
    39

    A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85
    By:
    • Horvath, Anelia;
    • Giatzakis, Christoforos;
    • Tsang, Kitman;
    • Greene, Elizabeth;
    • Osorio, Paulo;
    • Boikos, Sosipatros;
    • Libè, Rossella;
    • Patronas, Yianna;
    • Robinson-White, Audrey;
    • Remmers, Elaine;
    • Bertherat, Jerôme;
    • Nesterova, Maria;
    • Stratakis, Constantine A.
    Publication type:
    Article
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