Found: 5

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  • Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 11876, doi. 10.3390/ijms241511876
    By:
    • Zin, Olivia A.;
    • Neves, Luiza M.;
    • Cunha, Daniela P.;
    • Motta, Fabiana L.;
    • Agonigi, Bruna N. S.;
    • Horovitz, Dafne D. G.;
    • Almeida Jr., Daltro C.;
    • Malacarne, Jocieli;
    • Rodrigues, Ana Paula S.;
    • Carvalho, Adriana B.;
    • Rivello, Cinthia A.;
    • Espariz, Rita;
    • Zin, Andrea A.;
    • Sallum, Juliana M. F.;
    • Vasconcelos, Zilton F. M.
    Publication type:
    Article

  • Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

    Published in:
    Genes, 2021, v. 12, n. 7, p. 1069, doi. 10.3390/genes12071069
    By:
    • Zin, Olivia A.;
    • Neves, Luiza M.;
    • Motta, Fabiana L.;
    • Horovitz, Dafne D. G.;
    • Guida, Leticia;
    • Gomes, Leonardo H. F.;
    • Cunha, Daniela P.;
    • Rodrigues, Ana Paula S.;
    • Zin, Andrea A.;
    • Sallum, Juliana M. F.;
    • Vasconcelos, Zilton F. M.
    Publication type:
    Article

  • Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

    Published in:
    2016
    By:
    • Schuler-Faccini, Lavinia;
    • Ribeiro, Erlane M.;
    • Feitosa, Ian M. L.;
    • Horovitz, Dafne D. G.;
    • Cavalcanti, Denise P.;
    • Pessoa, André;
    • Doriqui, Maria Juliana R.;
    • Neri, Joao Ivanildo;
    • de Pina Neto, Joao Monteiro;
    • Wanderley, Hector Y. C.;
    • Cernach, Mirlene;
    • El-Husny, Antonette S.;
    • Pone, Marcos V. S.;
    • Serao, Cassio L. C.;
    • Sanseverino, Maria Teresa V.;
    • Neto, Joao Monteiro de Pina;
    • Brazilian Medical Genetics Society–Zika Embryopathy Task Force
    Publication type:
    journal article

  • Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

    Published in:
    Human Mutation, 2012, v. 33, n. 1, p. 189, doi. 10.1002/humu.21623
    By:
    • Itzkovitz, Brandon;
    • Jiralerspong, Sarn;
    • Nimmo, Graeme;
    • Loscalzo, Melissa;
    • Horovitz, Dafne D. G.;
    • Snowden, Ann;
    • Moser, Ann;
    • Steinberg, Steve;
    • Braverman, Nancy
    Publication type:
    Article

  • 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