Found: 4

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  • Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1797, doi. 10.1210/clinem/dgac064
    By:
    • Lisboa Gomes, Nathalia;
    • Loch Batista, Rafael;
    • Nishi, Mirian Y.;
    • Marcondes Lerário, Antônio;
    • Silva, Thatiana E.;
    • de Moraes Narcizo, Amanda;
    • Figueredo Benedetti, Anna Flávia;
    • de Assis Funari, Mariana Ferreira;
    • Faria Junior, José Antônio;
    • Rodrigues Moraes, Daniela;
    • Lousada Quintão, Lia Mesquita;
    • Ribeiro Montenegro, Luciana;
    • Martins Ferrari, Maria Teresa;
    • Jorge, Alexander A.;
    • Arnhold, Ivo J. P.;
    • Frade Costa, Elaine Maria;
    • Domenice, Sorahia;
    • Bilharinho Mendonca, Berenice
    Publication type:
    Article

  • High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53.

    Published in:
    Cancers, 2020, v. 12, n. 3, p. 621, doi. 10.3390/cancers12030621
    By:
    • Brondani, Vania Balderrama;
    • Montenegro, Luciana;
    • Lacombe, Amanda Meneses Ferreira;
    • Magalhães, Breno Marchiori;
    • Nishi, Mirian Yumie;
    • Funari, Mariana Ferreira de Assis;
    • Narcizo, Amanda de Moraes;
    • Cardoso, Lais Cavalca;
    • Siqueira, Sheila Aparecida Coelho;
    • Zerbini, Maria Claudia Nogueira;
    • Denes, Francisco Tibor;
    • Latronico, Ana Claudia;
    • Mendonca, Berenice Bilharinho;
    • Almeida, Madson Queiroz;
    • Lerario, Antonio Marcondes;
    • Soares, Ibere Cauduro;
    • Fragoso, Maria Candida Barisson Villares
    Publication type:
    Article

  • Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

    Published in:
    Sexual Development, 2022, v. 16, n. 1, p. 27, doi. 10.1159/000518091
    By:
    • Leitao Braga, Barbara;
    • Lisboa Gomes, Nathalia;
    • Nishi, Mirian Y.;
    • Freire, Bruna L.;
    • Batista, Rafael L.;
    • D. Faria Junior, Jose A.;
    • Funari, Mariana F.A.;
    • Figueredo Benedetti, Anna F.;
    • de Moraes Narcizo, Amanda;
    • Cavalca Cardoso, Lais;
    • Lerario, Antonio M.;
    • Guerra-Junior, Gil;
    • Frade Costa, Elaine M.;
    • Domenice, Sorahia;
    • Jorge, Alexander A.L.;
    • Mendonca, Berenice B.
    Publication type:
    Article

  • Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1128, doi. 10.3390/genes12081128
    By:
    • Nakaguma, Marilena;
    • Ferreira, Nathalia Garcia Bianchi Pereira;
    • Benedetti, Anna Flavia Figueredo;
    • Madi, Mariana Cotarelli;
    • Silva, Juliana Moreira;
    • Li, Jun Z.;
    • Ma, Qianyi;
    • Bilge Ozel, Ayse;
    • Fang, Qing;
    • Narcizo, Amanda de Moraes;
    • Cardoso, Laís Cavalca;
    • Montenegro, Luciana Ribeiro;
    • Funari, Mariana Ferreira de Assis;
    • Nishi, Mirian Yumie;
    • Arnhold, Ivo Jorge Prado;
    • Jorge, Alexander Augusto de Lima;
    • Mendonca, Berenice Bilharinho de;
    • Camper, Sally Ann;
    • Carvalho, Luciani R.
    Publication type:
    Article