Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 4

Results: 18
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    Nephronophthisis.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 406, doi. 10.1038/ejhg.2008.238
    By:
    • Simms, Roslyn J.;
    • Eley, Lorraine;
    • Sayer, John A.
    Publication type:
    Article
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    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
    By:
    • Neumann, Thomas E.;
    • Allanson, Judith;
    • Kavamura, Ines;
    • Kerr, Bronwyn;
    • Neri, Giovanni;
    • Noonan, Jacqueline;
    • Cordeddu, Viviana;
    • Gibson, Kate;
    • Tzschach, Andreas;
    • Krüger, Gabriele;
    • Hoeltzenbein, Maria;
    • Goecke, Timm O.;
    • Kehl, Hans Gerd;
    • Albrecht, Beate;
    • Luczak, Klaudiusz;
    • Sasiadek, Maria M;
    • Musante, Luciana;
    • Laurie, Rohan;
    • Peters, Hartmut;
    • Tartaglia, Marco
    Publication type:
    Article
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    GENESTAT: an information portal for design and analysis of genetic association studies.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 533, doi. 10.1038/ejhg.2008.216
    By:
    • Ripatti, Samuli;
    • Becker, Tim;
    • Bickeböller, Heike;
    • Dominicus, Annica;
    • Fischer, Christine;
    • Humphreys, Keith;
    • Jonasdottir, Gudrun;
    • Moreau, Yves;
    • Olsson, Marita;
    • Ploner, Alexander;
    • Sheehan, Nuala;
    • Van Steen, Kristel;
    • Baur, Max;
    • van Duijn, Cornelia;
    • Palmgren, Juni
    Publication type:
    Article
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    Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 491, doi. 10.1038/ejhg.2008.207
    By:
    • Faivre, L.;
    • Collod-Beroud, G.;
    • Callewaert, B.;
    • Child, A.;
    • Binquet, C.;
    • Gautier, E.;
    • Loeys, B. .L;
    • Arbustini, E.;
    • Mayer, K.;
    • Arslan-Kirchner, M.;
    • Stheneur, C.;
    • Kiotsekoglou, A.;
    • Comeglio, P.;
    • Marziliano, N.;
    • Wolf, J. E.;
    • Bouchot, O.;
    • Khau-Van-Kien, P.;
    • Beroud, C.;
    • Claustres, M.;
    • Bonithon-Kopp, C.
    Publication type:
    Article
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    Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 517, doi. 10.1038/ejhg.2008.201
    By:
    • Hilgert, Nele;
    • Huentelman, Matthew J.;
    • Thorburn, Ashley Q.;
    • Fransen, Erik;
    • Dieltjens, Nele;
    • Mueller-Malesinska, Malgorzata;
    • Pollak, Agnieszka;
    • Skorka, Agata;
    • Waligora, Jaroslaw;
    • Ploski, Rafal;
    • Castorina, Pierangela;
    • Primignani, Paola;
    • Ambrosetti, Umberto;
    • Murgia, Alessandra;
    • Orzan, Eva;
    • Pandya, Arti;
    • Arnos, Kathleen;
    • Norris, Virginia;
    • Seeman, Pavel;
    • Janousek, Petr
    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:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
    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:
    Article
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    Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
    By:
    • Lyle, Robert;
    • Béna, Frédérique;
    • Gagos, Sarantis;
    • Gehrig, Corinne;
    • Lopez, Gipsy;
    • Schinzel, Albert;
    • Lespinasse, James;
    • Bottani, Armand;
    • Dahoun, Sophie;
    • Taine, Laurence;
    • Doco-Fenzy, Martine;
    • Cornillet-Lefèbvre, Pascale;
    • Pelet, Anna;
    • Lyonnet, Stanislas;
    • Toutain, Annick;
    • Colleaux, Laurence;
    • Horst, Jürgen;
    • Kennerknecht, Ingo;
    • Wakamatsu, Nobuaki;
    • Descartes, Maria
    Publication type:
    Article