Found: 7

Select item for more details and to access through your institution.

  • 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 frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892
    By:
    • Freire, Bruna Lucheze;
    • Homma, Thais Kataoka;
    • Lerario, Antônio Marcondes;
    • Seo, Go Hun;
    • Han, Heonjong;
    • de Assis Funari, Mariana Ferreira;
    • Gomes, Nathalia Lisboa;
    • Rosemberg, Carla;
    • Krepischi, Ana Cristina Victorino;
    • de Andrade Vasques, Gabriela;
    • Malaquias, Alexsandra Christianne;
    • de Lima Jorge, Alexander Augusto
    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

  • Genetic investigation of patients with tall stature.

    Published in:
    European Journal of Endocrinology, 2020, v. 182, n. 2, p. 139, doi. 10.1530/EJE-19-0785
    By:
    • de Albuquerque Albuquerque, Edoarda Vasco;
    • de Assis Funari, Mariana Ferreira;
    • de Souza Quedas, Elisângela Pereira;
    • Kawahira, Rachel Sayuri Honjo;
    • Jallad, Raquel Soares;
    • Homma, Thaís Kataoka;
    • Martin, Regina Matsunaga;
    • Brito, Vinicius Nahime;
    • Malaquias, Alexsandra Christianne;
    • Lerario, Antonio Marcondes;
    • Rosenberg, Carla;
    • Krepischi, Ana Cristina Victorino;
    • Chong Ae Kim;
    • Arnhold, Ivo Jorge Prado;
    • de Lima Jorge, Alexander Augusto
    Publication type:
    Article

  • Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

    Published in:
    2021
    By:
    • Canton, Ana Pinheiro Machado;
    • Krepischi, Ana Cristina Victorino;
    • Montenegro, Luciana Ribeiro;
    • Costa, Silvia;
    • Rosenberg, Carla;
    • Steunou, Virginie;
    • Sobrier, Marie-Laure;
    • Santana, Lucas;
    • Honjo, Rachel Sayuri;
    • Kim, Chong Ae;
    • Zegher, Francis de;
    • Idkowiak, Jan;
    • Gilligan, Lorna C;
    • Arlt, Wiebke;
    • Funari, Mariana Ferreira de Assis;
    • Jorge, Alexander Augusto de Lima;
    • Mendonca, Berenice Bilharinho;
    • Netchine, Irène;
    • Brito, Vinicius Nahime;
    • Latronico, Ana Claudia
    Publication type:
    journal article

  • Evaluation of the trabecular bone score in 35 children and adults with X-linked hypophosphatemic rickets.

    Published in:
    Journal of Bone & Mineral Metabolism, 2023, v. 41, n. 5, p. 666, doi. 10.1007/s00774-023-01442-x
    By:
    • de Paula Colares Neto, Guido;
    • Pereira, Rosa Maria Rodrigues;
    • Alvarenga, Jackeline Couto;
    • Takayama, Liliam;
    • de Assis Funari, Mariana Ferreira;
    • Martin, Regina Matsunaga
    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