Found: 3

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  • Mandibulofacial dysostosis Bauru type: Refining the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1747, doi. 10.1002/ajmg.a.38257
    By:
    • Moura, Priscila P.;
    • Kokitsu‐Nakata, Nancy M.;
    • Yatabe, Marília S.;
    • Vendramini‐Pittoli, Siulan;
    • Hori, Pedro H.;
    • Guion‐Almeida, Maria L.;
    • Garib, Daniela G.;
    • Richieri‐Costa, Antonio;
    • Zechi‐Ceide, Roseli M.
    Publication type:
    Article

  • 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

  • Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
    By:
    • Romanelli Tavares, Vanessa L;
    • Gordon, Christopher T;
    • Zechi-Ceide, Roseli M;
    • Kokitsu-Nakata, Nancy Mizue;
    • Voisin, Norine;
    • Tan, Tiong Y;
    • Heggie, Andrew A;
    • Vendramini-Pittoli, Siulan;
    • Propst, Evan J;
    • Papsin, Blake C;
    • Torres, Tatiana T;
    • Buermans, Henk;
    • Capelo, Luciane Portas;
    • den Dunnen, Johan T;
    • Guion-Almeida, Maria L;
    • Lyonnet, Stanislas;
    • Amiel, Jeanne;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article