Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 1

Results: 47
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    First Fetal Case of the 8q24.3 Contiguous Genes Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 239, doi. 10.1002/ajmg.a.37411
    By:
    • Wells, Constance;
    • Spaggiari, Emmanuel;
    • Malan, Valérie;
    • Stirnemann, Julien J.;
    • Attie‐Bitach, Tania;
    • Ville, Yves;
    • Vekemans, Michel;
    • Bessieres, Bettina;
    • Romana, Serge
    Publication type:
    Article
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    Screening of CD96 and ASXL1 in 11 Patients with Opitz C or Bohring-Opitz Syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 24, doi. 10.1002/ajmg.a.37418
    By:
    • Urreizti, Roser;
    • Roca‐Ayats, Neus;
    • Trepat, Judith;
    • Garcia‐Garcia, Francisco;
    • Aleman, Alejandro;
    • Orteschi, Daniela;
    • Marangi, Giuseppe;
    • Neri, Giovanni;
    • Opitz, John M.;
    • Dopazo, Joaquin;
    • Cormand, Bru;
    • Vilageliu, Lluïsa;
    • Balcells, Susana;
    • Grinberg, Daniel
    Publication type:
    Article
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    Vici Syndrome in Siblings Born to Consanguineous Parents.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 220, doi. 10.1002/ajmg.a.37398
    By:
    • Tasdemir, Sener;
    • Sahin, Ibrahim;
    • Cayır, Atilla;
    • Yuce, Ihsan;
    • Ceylaner, Serdar;
    • Tatar, Abdulgani
    Publication type:
    Article
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    A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 183, doi. 10.1002/ajmg.a.37397
    By:
    • Nakagawa, Taku;
    • Taniguchi‐Ikeda, Mariko;
    • Murakami, Yoshiko;
    • Nakamura, Shota;
    • Motooka, Daisuke;
    • Emoto, Tomomi;
    • Satake, Wataru;
    • Nishiyama, Masahiro;
    • Toyoshima, Daisaku;
    • Morisada, Naoya;
    • Takada, Satoshi;
    • Tairaku, Shinya;
    • Okamoto, Nobuhiko;
    • Morioka, Ichiro;
    • Kurahashi, Hiroki;
    • Toda, Tatsushi;
    • Kinoshita, Taroh;
    • Iijima, Kazumoto
    Publication type:
    Article
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    Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
    By:
    • Barraza‐García, Jimena;
    • Iván Rivera‐Pedroza, Carlos;
    • Salamanca, Luis;
    • Belinchón, Alberta;
    • López‐González, Vanesa;
    • Sentchordi‐Montané, Lucía;
    • del Pozo, Ángela;
    • Santos‐Simarro, Fernando;
    • Campos‐Barros, Ángel;
    • Lapunzina, Pablo;
    • Guillén‐Navarro, Encarna;
    • González‐Casado, Isabel;
    • García‐Miñaur, Sixto;
    • Heath, Karen E.
    Publication type:
    Article
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    Thrombocytopenia and Cornelia de Lange Syndrome: Still an Enigma?

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 130, doi. 10.1002/ajmg.a.37390
    By:
    • Cavalleri, Valeria;
    • Bettini, Laura R.;
    • Barboni, Chiara;
    • Cereda, Anna;
    • Mariani, Milena;
    • Spinelli, Marco;
    • Gervasini, Cristina;
    • Russo, Silvia;
    • Biondi, Andrea;
    • Jankovic, Momcilo;
    • Selicorni, Angelo
    Publication type:
    Article
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    Somatic BRAF c.1799T>A p.V600E Mosaicism Syndrome Characterized by a Linear Syringocystadenoma Papilliferum, Anaplastic Astrocytoma, and Ocular Abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 189, doi. 10.1002/ajmg.a.37376
    By:
    • Watanabe, Yuko;
    • Shido, Kosuke;
    • Niihori, Tetsuya;
    • Niizuma, Hidetaka;
    • Katata, Yu;
    • Iizuka, Chie;
    • Oba, Daiju;
    • Moriya, Kunihiko;
    • Saito‐Nanjo, Yuka;
    • Onuma, Masaei;
    • Rikiishi, Takeshi;
    • Sasahara, Yoji;
    • Watanabe, Mika;
    • Aiba, Setsuya;
    • Saito, Ryuta;
    • Sonoda, Yukihiko;
    • Tominaga, Teiji;
    • Aoki, Yoko;
    • Kure, Shigeo
    Publication type:
    Article
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    Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
    By:
    • Hackmann, Karl;
    • Rump, Andreas;
    • Haas, Stefan A.;
    • Lemke, Johannes R.;
    • Fryns, Jean‐Pierre;
    • Tzschach, Andreas;
    • Wieczorek, Dagmar;
    • Albrecht, Beate;
    • Kuechler, Alma;
    • Ripperger, Tim;
    • Kobelt, Albrecht;
    • Oexle, Konrad;
    • Tinschert, Sigrid;
    • Schrock, Evelin;
    • Kalscheuer, Vera M.;
    • Di Donato, Nataliya
    Publication type:
    Article
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    Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
    By:
    • El Chehadeh, Salima;
    • Faivre, Laurence;
    • Mosca‐Boidron, Anne‐Laure;
    • Malan, Valérie;
    • Amiel, Jeanne;
    • Nizon, Mathilde;
    • Touraine, Renaud;
    • Prieur, Fabienne;
    • Pasquier, Laurent;
    • Callier, Patrick;
    • Lefebvre, Mathilde;
    • Marle, Nathalie;
    • Dubourg, Christèle;
    • Julia, Sophie;
    • Sarret, Catherine;
    • Francannet, Christine;
    • Laffargue, Fanny;
    • Boespflug‐Tanguy, Odile;
    • David, Albert;
    • Isidor, Bertrand
    Publication type:
    Article
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    The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 103, doi. 10.1002/ajmg.a.37383
    By:
    • Janecke, Andreas R.;
    • Li, Ben;
    • Boehm, Manfred;
    • Krabichler, Birgit;
    • Rohrbach, Marianne;
    • Müller, Thomas;
    • Fuchs, Irene;
    • Golas, Gretchen;
    • Katagiri, Yasuhiro;
    • Ziegler, Shira G.;
    • Gahl, William A.;
    • Wilnai, Yael;
    • Zoppi, Nicoletta;
    • Geller, Herbert M.;
    • Giunta, Cecilia;
    • Slavotinek, Anne;
    • Steinmann, Beat
    Publication type:
    Article
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    ERRATUM.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 285, doi. 10.1002/ajmg.a.37244
    By:
    • Donkervoort, S.;
    • Bönnemann, C. G.;
    • Loeys, B.;
    • Jungbluth, H.;
    • Voermans, N. C.
    Publication type:
    Article
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    New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
    By:
    • Severi, Giulia;
    • Bernardini, Laura;
    • Briuglia, Silvana;
    • Bigoni, Stefania;
    • Buldrini, Barbara;
    • Magini, Pamela;
    • Dentici, Maria L.;
    • Cordelli, Duccio M.;
    • Arrigo, Teresa;
    • Franzoni, Emilio;
    • Fini, Sergio;
    • Italyankina, Eleonora;
    • Loddo, Italia;
    • Novelli, Antonio;
    • Graziano, Claudio
    Publication type:
    Article
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