Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 5

Results: 22
    1

    GAB2 is not associated with late-onset Alzheimer's disease in Japanese.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 682, doi. 10.1038/ejhg.2008.181
    By:
    • Miyashita, Akinori;
    • Arai, Hiroyuki;
    • Asada, Takashi;
    • Imagawa, Masaki;
    • Shoji, Mikio;
    • Higuchi, Susumu;
    • Urakami, Katsuya;
    • Toyabe, Shinichi;
    • Akazawa, Kohei;
    • Kanazawa, Ichiro;
    • Ihara, Yasuo;
    • Kuwano, Ryozo
    Publication type:
    Article
    2

    The Etruscan timeline: a recent Anatolian connection.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 693, doi. 10.1038/ejhg.2008.224
    By:
    • Brisighelli, Francesca;
    • Capelli, Cristian;
    • Álvarez-Iglesias, Vanesa;
    • Onofri, Valerio;
    • Paoli, Giorgio;
    • Tofanelli, Sergio;
    • Carracedo, Ángel;
    • Pascali, Vincenzo L.;
    • Salas, Antonio
    Publication type:
    Article
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    The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 620, doi. 10.1038/ejhg.2008.202
    By:
    • Henneman, Peter;
    • van der Sman-de Beer, Femke;
    • Moghaddam, Payman Hanifi;
    • Huijts, Petra;
    • Stalenhoef, Anton F. H.;
    • Kastelein, John J. P.;
    • van Duijn, Cornelia M.;
    • Havekes, Louis M.;
    • Frants, Rune R.;
    • van Dijk, Ko Willems;
    • Smelt, Augustinus H. M.
    Publication type:
    Article
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    In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
    By:
    • Shatunov, Alexey;
    • Olivé, Montse;
    • Odgerel, Zagaa;
    • Stadelmann-Nessler, Christine;
    • Irlbacher, Kerstin;
    • van Landeghem, Frank;
    • Bayarsaikhan, Munkhuu;
    • Hee-Suk Lee;
    • Goudeau, Bertrand;
    • Chinnery, Patrick F.;
    • Straub, Volker;
    • Hilton-Jones, David;
    • Damian, Maxwell S.;
    • Kaminska, Anna;
    • Vicart, Patrick;
    • Bushby, Kate;
    • Dalakas, Marinos C.;
    • Sambuughin, Nyamkhishig;
    • Ferrer, Isidro;
    • Goebel, Hans H.
    Publication type:
    Article
    12

    Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
    By:
    • Doucette, Lance;
    • Merner, Nancy D.;
    • Cooke, Sandra;
    • Ives, Elizabeth;
    • Galutira, Dante;
    • Walsh, Vanessa;
    • Walsh, Tom;
    • MacLaren, Linda;
    • Cater, Tracey;
    • Fernandez, Bridget;
    • Green, Jane S.;
    • Wilcox, Edward R.;
    • Shotland, Larry;
    • Li, X. C.;
    • Lee, Ming;
    • King, Mary-Claire;
    • Young, Terry-Lynn
    Publication type:
    Article
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    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
    By:
    • Bliek, Jet;
    • Verde, Gaetano;
    • Callaway, Jonathan;
    • Maas, Saskia M.;
    • De Crescenzo, Agostina;
    • Sparago, Angela;
    • Cerrato, Flavia;
    • Russo, Silvia;
    • Ferraiuolo, Serena;
    • Rinaldi, Maria Michela;
    • Fischetto, Rita;
    • Lalatta, Faustina;
    • Giordano, Lucio;
    • Ferrari, Paola;
    • Cubellis, Maria Vittoria;
    • Larizza, Lidia;
    • Temple, I. Karen;
    • Mannens, Marcel M. A. M.;
    • Mackay, Deborah J. G.;
    • Riccio, Andrea
    Publication type:
    Article
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    A 15q13.3 microdeletion segregating with autism.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
    By:
    • Pagnamenta, Alistair T.;
    • Wing, Kirsty;
    • Akha, Elham Sadighi;
    • Knight, Samantha J. L.;
    • Bölte, Sven;
    • Schmötzer, Gabriele;
    • Duketis, Eftichia;
    • Poustka, Fritz;
    • Klauck, Sabine M.;
    • Poustka, Annemarie;
    • Ragoussis, Jiannis;
    • Bailey, Anthony J.;
    • Monaco, Anthony P.
    Publication type:
    Article
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    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

    Published in:
    2009
    By:
    • Lugtenberg, Dorien;
    • Kleefstra, Tjitske;
    • Oudakker, Astrid R.;
    • Nillesen, Willy M;
    • Yntema, Helger G.;
    • Tzschach, Andreas;
    • Raynaud, Martine;
    • Rating, Dietz;
    • Journel, Hubert;
    • Chelly, Jamel;
    • Goizet, Cyril;
    • Lacombe, Didier;
    • Pedespan, Jean-Michel;
    • Echenne, Bernard;
    • Tariverdian, Gholamali;
    • O'Rourke, Declan;
    • King, Mary D.;
    • Green, Andrew;
    • van Kogelenberg, Margriet;
    • Van Esch, Hilde
    Publication type:
    Correction Notice
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