Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 4

Results: 46
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    Cover Image, Volume 173A, Number 4, April 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Other
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    Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
    By:
    • Romanelli Tavares, Vanessa L.;
    • Zechi‐Ceide, Roseli M.;
    • Bertola, Debora R.;
    • Gordon, Christopher T.;
    • Ferreira, Simone G.;
    • Hsia, Gabriella S. P.;
    • Yamamoto, Guilherme L.;
    • Ezquina, Suzana A. M.;
    • Kokitsu‐Nakata, Nancy M.;
    • Vendramini‐Pittoli, Siulan;
    • Freitas, Renato S.;
    • Souza, Josiane;
    • Raposo‐Amaral, Cesar A.;
    • Zatz, Mayana;
    • Amiel, Jeanne;
    • Guion‐Almeida, Maria L.;
    • Passos‐Bueno, Maria Rita
    Publication type:
    Article
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    Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 959, doi. 10.1002/ajmg.a.38102
    By:
    • Logeswaran, Thushiha;
    • Friedburg, Christoph;
    • Hofmann, Karoline;
    • Akintuerk, Hakan;
    • Biskup, Saskia;
    • Graef, Michael;
    • Rad, Ali;
    • Weber, Axel;
    • Neubauer, Bernd A.;
    • Schranz, Dietmar;
    • Bouvagnet, Patrice;
    • Lorenz, Birgit;
    • Hahn, Andreas
    Publication type:
    Article
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    The phenotypic spectrum of congenital Zika syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 841, doi. 10.1002/ajmg.a.38170
    By:
    • del Campo, Miguel;
    • Feitosa, Ian M. L.;
    • Ribeiro, Erlane M.;
    • Horovitz, Dafne D. G.;
    • Pessoa, André L. S.;
    • França, Giovanny V. A.;
    • García‐Alix, Alfredo;
    • Doriqui, Maria J. R.;
    • Wanderley, Hector Y. C.;
    • Sanseverino, Maria V. T.;
    • Neri, João I. C. F.;
    • Pina‐Neto, João M.;
    • Santos, Emerson S.;
    • Verçosa, Islane;
    • Cernach, Mirlene C. S. P.;
    • Medeiros, Paula F. V.;
    • Kerbage, Saile C.;
    • Silva, André A.;
    • van der Linden, Vanessa;
    • Martelli, Celina M. T.
    Publication type:
    Article
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    Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1009, doi. 10.1002/ajmg.a.38120
    By:
    • Altassan, Ruqaiah;
    • Saud, Haya Al;
    • Masoodi, Tariq Ahmad;
    • Dosssari, Haya Al;
    • Khalifa, Ola;
    • Al‐Zaidan, Hamad;
    • Sakati, Nadia;
    • Rhabeeni, Zuhair;
    • Al‐Hassnan, Zuhair;
    • Binamer, Yousef;
    • Alhashemi, Nadia;
    • Wade, William;
    • Al‐Zayed, Zayed;
    • Al‐Sayed, Moeen;
    • Al‐Muhaizea, Mohamed A.;
    • Meyer, Brian;
    • Al‐Owain, Mohammad;
    • Wakil, Salma M.
    Publication type:
    Article
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    22q11.2 deletion syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Article
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    Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1017, doi. 10.1002/ajmg.a.38142
    By:
    • Ripperger, Tim;
    • Bielack, Stefan S.;
    • Borkhardt, Arndt;
    • Brecht, Ines B.;
    • Burkhardt, Birgit;
    • Calaminus, Gabriele;
    • Debatin, Klaus‐Michael;
    • Deubzer, Hedwig;
    • Dirksen, Uta;
    • Eckert, Cornelia;
    • Eggert, Angelika;
    • Erlacher, Miriam;
    • Fleischhack, Gudrun;
    • Frühwald, Michael C.;
    • Gnekow, Astrid;
    • Goehring, Gudrun;
    • Graf, Norbert;
    • Hanenberg, Helmut;
    • Hauer, Julia;
    • Hero, Barbara
    Publication type:
    Article
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    Descriptive study of the complete blood count in newborn infants with Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 897, doi. 10.1002/ajmg.a.38097
    By:
    • Martínez‐Macías, Francisco Javier;
    • Bobadilla‐Morales, Lucina;
    • González‐Cruz, Janet;
    • Quiles‐Corona, Moisés;
    • Corona‐Rivera, Alfredo;
    • Peña‐Padilla, Christian;
    • Orozco‐Vela, Mireya;
    • Silva‐Cruz, Rocío;
    • Velarde‐Rivera, Fernando;
    • Corona‐Rivera, Jorge Román
    Publication type:
    Article
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    Sleep-disordered breathing and its management in children with achondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 868, doi. 10.1002/ajmg.a.38130
    By:
    • Tenconi, Rossana;
    • Khirani, Sonia;
    • Amaddeo, Alessandro;
    • Michot, Caroline;
    • Baujat, Geneviève;
    • Couloigner, Vincent;
    • De Sanctis, Livio;
    • James, Syril;
    • Zerah, Michel;
    • Cormier‐Daire, Valérie;
    • Fauroux, Brigitte
    Publication type:
    Article
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    A predictive model for obstructive sleep apnea and Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 889, doi. 10.1002/ajmg.a.38137
    By:
    • Skotko, Brian G.;
    • Macklin, Eric A.;
    • Muselli, Marco;
    • Voelz, Lauren;
    • McDonough, Mary Ellen;
    • Davidson, Emily;
    • Allareddy, Veerasathpurush;
    • Jayaratne, Yasas S. N.;
    • Bruun, Richard;
    • Ching, Nicholas;
    • Weintraub, Gil;
    • Gozal, David;
    • Rosen, Dennis
    Publication type:
    Article
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