Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 7

Results: 55
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    Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1662, doi. 10.1002/ajmg.a.35377
    By:
    • Niederhoffer, Karen Y.;
    • Peñaherrera, Maria;
    • Pugash, Denise;
    • Rupps, Rosemarie;
    • Arbour, Laura;
    • Tessier, Francine;
    • Choufani, Sanaa;
    • Zhao, Chunhua;
    • Manokhina, Irina;
    • Shuman, Cheryl;
    • Robinson, Wendy P.;
    • Weksberg, Rosanna;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    Germline mosacism in Shprintzen-Goldberg syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1574, doi. 10.1002/ajmg.a.35388
    By:
    • Shanske, Alan L.;
    • Goodrich, James T.;
    • Ala-Kokko, Leena;
    • Baker, Stuart;
    • Frederick, Barbara;
    • Levy, Brynn
    Publication type:
    Article
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    PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1719, doi. 10.1002/ajmg.a.35406
    By:
    • Hopman, Saskia M.J.;
    • Van Rijn, Rick R.;
    • Eng, Charis;
    • Bras, Johannes;
    • Alders, Marielle;
    • van der Horst, Chantal M.;
    • Hennekam, Raoul C.M.;
    • Merks, Johannes H.M.
    Publication type:
    Article
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    Three new patients with FATCO: Fibular agenesis with ectrodactyly.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1542, doi. 10.1002/ajmg.a.35369
    By:
    • Bieganski, Tadeusz;
    • Jamsheer, Aleksander;
    • Sowinska, Anna;
    • Baranska, Dobromila;
    • Niedzielski, Kryspin;
    • Kozlowski, Kazimierz;
    • Czarny-Ratajczak, Malwina
    Publication type:
    Article
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    Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
    By:
    • Bahi-Buisson, Nadia;
    • Villeneuve, Nathalie;
    • Caietta, Emilie;
    • Jacquette, Aurélia;
    • Maurey, Helene;
    • Matthijs, Gert;
    • Van Esch, Hilde;
    • Delahaye, Andrée;
    • Moncla, Anne;
    • Milh, Mathieu;
    • Zufferey, Flore;
    • Diebold, Bertrand;
    • Bienvenu, Thierry
    Publication type:
    Article
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    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
    By:
    • Thierry, Gaelle;
    • Bénéteau, Claire;
    • Pichon, Olivier;
    • Flori, Elisabeth;
    • Isidor, Bertrand;
    • Popelard, Françoise;
    • Delrue, Marie-Ange;
    • Duboscq-Bidot, Laetitia;
    • Thuresson, Ann-Charlotte;
    • van Bon, Bregje W.M.;
    • Cailley, Dorothée;
    • Rooryck, Caroline;
    • Paubel, Agathe;
    • Metay, Corinne;
    • Dusser, Anne;
    • Pasquier, Laurent;
    • Béri, Mylène;
    • Bonnet, Céline;
    • Jaillard, Sylvie;
    • Dubourg, Christèle
    Publication type:
    Article
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    Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1670, doi. 10.1002/ajmg.a.35335
    By:
    • Higashimoto, Ken;
    • Nakabayashi, Kazuhiko;
    • Yatsuki, Hitomi;
    • Yoshinaga, Hokuto;
    • Jozaki, Kosuke;
    • Okada, Junichiro;
    • Watanabe, Yoriko;
    • Aoki, Aiko;
    • Shiozaki, Arihiro;
    • Saito, Shigeru;
    • Koide, Kayoko;
    • Mukai, Tsunehiro;
    • Hata, Kenichiro;
    • Soejima, Hidenobu
    Publication type:
    Article
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    Sirenomelia and caudal malformations in two families.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1801, doi. 10.1002/ajmg.a.35408
    By:
    • Gerard, Marion;
    • Layet, Valérie;
    • Costa, Teresa;
    • Roumazeilles, Yves;
    • Chenal, Pierre;
    • Cailliez, Daniel;
    • Gerard, Bénédicte
    Publication type:
    Article
    42

    Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419
    By:
    • Marangi, Giuseppe;
    • Ricciardi, Stefania;
    • Orteschi, Daniela;
    • Tenconi, Romano;
    • Monica, Matteo Della;
    • Scarano, Gioacchino;
    • Battaglia, Domenica;
    • Lettori, Donatella;
    • Vasco, Gessica;
    • Zollino, Marcella
    Publication type:
    Article
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    Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
    By:
    • Hernández-García, Andrés;
    • Brosens, Erwin;
    • Zaveri, Hitisha P.;
    • de Jong, Elisabeth M.;
    • Yu, Zhiyin;
    • Namwanje, Maria;
    • Mayle, Allison;
    • Fernandes, Caraciolo J.;
    • Lee, Brendan;
    • Blazo, Maria;
    • Lalani, Seema R.;
    • Tibboel, Dick;
    • de Klein, Annelies;
    • Scott, Daryl A.
    Publication type:
    Article