Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 2


Results: 44
    1

    Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 297, doi. 10.1002/ajmg.a.37362
    By:
    • Whitman, Mary C.;
    • Andrews, Caroline;
    • Chan, Wai‐Man;
    • Tischfield, Max A.;
    • Stasheff, Steven F.;
    • Brancati, Francesco;
    • Ortiz‐Gonzalez, Xilma;
    • Nuovo, Sara;
    • Garaci, Francesco;
    • MacKinnon, Sarah E.;
    • Hunter, David G.;
    • Grant, P. Ellen;
    • Engle, Elizabeth C.
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 296, doi. 10.1002/ajmg.a.37555
    Publication type:
    Article
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    Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 322, doi. 10.1002/ajmg.a.37432
    By:
    • Takano, Kyoko;
    • Shiba, Naoko;
    • Wakui, Keiko;
    • Yamaguchi, Tomomi;
    • Aida, Noriko;
    • Inaba, Yuji;
    • Fukushima, Yoshimitsu;
    • Kosho, Tomoki
    Publication type:
    Article
    8

    Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 316, doi. 10.1002/ajmg.a.37433
    By:
    • Corona‐Rivera, Jorge Román;
    • Nieto‐García, Rafael;
    • López‐Marure, Eloy;
    • Cárdenas‐Ruiz Velasco, Juan José;
    • Bobadilla‐Morales, Lucina;
    • Mellín‐Sánchez, Estrella Lizbeth;
    • Aguirre‐Guillén, Rafael L.;
    • Pérez‐Ramírez, René O.;
    • Zapata‐Aldana, Eugenio;
    • Sandoval‐Talamantes, Ana K.;
    • Solís‐Ledezma, Susana;
    • Corona‐Rivera, Alfredo;
    • Gómez‐Ruiz, Larissa M.
    Publication type:
    Article
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    A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452
    By:
    • Fauth, Christine;
    • Steindl, Katharina;
    • Toutain, Annick;
    • Farrell, Sandra;
    • Witsch‐Baumgartner, Martina;
    • Karall, Daniela;
    • Joset, Pascal;
    • Böhm, Sebastian;
    • Baumer, Alessandra;
    • Maier, Oliver;
    • Zschocke, Johannes;
    • Weksberg, Rosanna;
    • Marshall, Christian R.;
    • Rauch, Anita
    Publication type:
    Article
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    Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
    By:
    • Bosson, Caroline;
    • Devillard, Françoise;
    • Satre, Véronique;
    • Dieterich, Klaus;
    • Ray, Pierre F.;
    • Morand, Béatrice;
    • Dubois‐Teklali, Fanny;
    • Vieville, Gaëlle;
    • Andrieux, Joris;
    • Brouillet, Sophie;
    • Amblard, Florence;
    • Jouk, Pierre‐Simon;
    • Coutton, Charles
    Publication type:
    Article
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    Prenatal findings in cardio-facio-cutaneous syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 441, doi. 10.1002/ajmg.a.37420
    By:
    • Templin, Ludivine;
    • Baumann, Clarisse;
    • Busa, Tiffany;
    • Heckenroth, Hélène;
    • Pouvreau, Nathalie;
    • Toutain, Annick;
    • Cave, Hélène;
    • Verloes, Alain;
    • Sigaudy, Sabine;
    • Philip, Nicole
    Publication type:
    Article
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    Publication schedule for 2016.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 292, doi. 10.1002/ajmg.a.37304
    Publication type:
    Article
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    Erratum.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 548, doi. 10.1002/ajmg.a.37446
    Publication type:
    Article
    38

    Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 410, doi. 10.1002/ajmg.a.37447
    By:
    • Bhavani, Gandham SriLakshmi;
    • Shah, Hitesh;
    • Shukla, Anju;
    • Gupta, Neerja;
    • Gowrishankar, Kalpana;
    • Rao, Anand P.;
    • Kabra, Madhulika;
    • Agarwal, Meenal;
    • Ranganath, Prajnya;
    • Ekbote, Alka V.;
    • Phadke, Shubha R.;
    • Kamath, Asha;
    • Dalal, Ashwin;
    • Girisha, Katta Mohan
    Publication type:
    Article
    39

    Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 403, doi. 10.1002/ajmg.a.37448
    By:
    • Faria, Ágatha Cristhina;
    • Rabbi‐Bortolini, Eliete;
    • Rebouças, Maria R. G. O.;
    • de S. Thiago Pereira, Andréia L. A.;
    • Frasson, Milena G. Tonini;
    • Atique, Rodrigo;
    • Lourenço, Naila Cristina V.;
    • Rosenberg, Carla;
    • Kobayashi, Gerson S.;
    • Passos‐Bueno, Maria Rita;
    • Errera, Flávia Imbroisi Valle
    Publication type:
    Article
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    Novel FANCI mutations in Fanconi anemia with VACTERL association.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 386, doi. 10.1002/ajmg.a.37461
    By:
    • Savage, Sharon A.;
    • Ballew, Bari J.;
    • Giri, Neelam;
    • Chandrasekharappa, Settara C.;
    • Ameziane, Najim;
    • de Winter, Johan;
    • Alter, Blanche P.
    Publication type:
    Article
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