Found: 8

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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

  • Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor.

    Published in:
    2019
    By:
    • Aguiar, Talita Ferreira;
    • Barbosa‐Teixeira, Anne C.;
    • Costa, Silvia Souza;
    • Ezquina, Suzana;
    • Gimenez, Thamiris Magalhães;
    • Novak, Estela;
    • Cristofani, Lilian Maria;
    • Rosenberg, Carla;
    • Odone Filho, Vicente;
    • Krepischi, Ana Cristina Victorino;
    • Barbosa-Teixeira, Anne C
    Publication type:
    Case Study

  • Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02790-9
    By:
    • Caires-Júnior, Luiz Carlos;
    • Goulart, Ernesto;
    • Melo, Uirá Souto;
    • Silva Araujo, Bruno Henrique;
    • Alvizi, Lucas;
    • Soares-Schanoski, Alessandra;
    • de Oliveira, Danyllo Felipe;
    • Shigeru Kobayashi, Gerson;
    • Griesi-Oliveira, Karina;
    • Manso Musso, Camila;
    • Sena Amaral, Murilo;
    • da Silva, Lucas Ferreira;
    • Astray, Renato Mancini;
    • Suárez-Patiño, Sandra Fernanda;
    • Cristina Ventini, Daniella;
    • da Silva, Sérgio Gomes;
    • Lopes Yamamoto, Guilherme;
    • Ezquina, Suzana;
    • Satya Naslavsky, Michel;
    • Alves Telles-Silva, Kayque
    Publication type:
    Article

  • Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02790-9
    By:
    • Caires-Júnior, Luiz Carlos;
    • Goulart, Ernesto;
    • Melo, Uirá Souto;
    • Araujo, Bruno Henrique Silva;
    • Alvizi, Lucas;
    • Soares-Schanoski, Alessandra;
    • de Oliveira, Danyllo Felipe;
    • Kobayashi, Gerson Shigeru;
    • Griesi-Oliveira, Karina;
    • Musso, Camila Manso;
    • Amaral, Murilo Sena;
    • daSilva, Lucas Ferreira;
    • Astray, Renato Mancini;
    • Suárez-Patiño, Sandra Fernanda;
    • Ventini, Daniella Cristina;
    • da Silva, Sérgio Gomes;
    • Yamamoto, Guilherme Lopes;
    • Ezquina, Suzana;
    • Naslavsky, Michel Satya;
    • Telles-Silva, Kayque Alves
    Publication type:
    Article

  • Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

    Published in:
    Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799
    By:
    • Carneiro, Thaise NR;
    • Krepischi, Ana CV;
    • Costa, Silvia S;
    • Silva, Israel Tojal da;
    • Vianna-Morgante, Angela M;
    • Valieris, Renan;
    • Ezquina, Suzana AM;
    • Bertola, Debora R;
    • Otto, Paulo A;
    • Rosenberg, Carla
    Publication type:
    Article

  • Exomic variants of an elderly cohort of Brazilians in the ABraOM database.

    Published in:
    Human Mutation, 2017, v. 38, n. 7, p. 751, doi. 10.1002/humu.23220
    By:
    • Naslavsky, Michel Satya;
    • Yamamoto, Guilherme Lopes;
    • Almeida, Tatiana Ferreira;
    • Ezquina, Suzana A. M.;
    • Sunaga, Daniele Yumi;
    • Pho, Nam;
    • Bozoklian, Daniel;
    • Sandberg, Tatiana Orli Milkewitz;
    • Brito, Luciano Abreu;
    • Lazar, Monize;
    • Bernardo, Danilo Vicensotto;
    • Amaro, Edson;
    • Duarte, Yeda A. O.;
    • Lebrão, Maria Lúcia;
    • Passos‐Bueno, Maria Rita;
    • Zatz, Mayana
    Publication type:
    Article

  • Actin cytoskeleton dynamics in stem cells from autistic individuals.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29309-6
    By:
    • Griesi-Oliveira, Karina;
    • Suzuki, Angela May;
    • Alves, Aline Yasuda;
    • Mafra, Ana Carolina Cintra Nunes;
    • Yamamoto, Guilherme Lopes;
    • Ezquina, Suzana;
    • Magalhães, Yuli Thamires;
    • Forti, Fabio Luis;
    • Sertie, Andrea Laurato;
    • Zachi, Elaine Cristina;
    • Vadasz, Estevão;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article

  • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

    Published in:
    Breast Cancer (13406868), 2021, v. 28, n. 2, p. 346, doi. 10.1007/s12282-020-01165-1
    By:
    • Bandeira, Gabriel;
    • Rocha, Katia;
    • Lazar, Monize;
    • Ezquina, Suzana;
    • Yamamoto, Guilherme;
    • Varela, Monica;
    • Takahashi, Vanessa;
    • Aguena, Meire;
    • Gollop, Thomaz;
    • Zatz, Mayana;
    • Passos-Bueno, Maria Rita;
    • Krepischi, Ana;
    • Okamoto, Oswaldo Keith
    Publication type:
    Article