Found: 5

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  • 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

  • The phenotypic spectrum associated with OTX2 mutations in humans.

    Published in:
    European Journal of Endocrinology, 2021, v. 185, n. 1, p. 121, doi. 10.1530/EJE-20-1453
    By:
    • Gregory, Louise C.;
    • Gergics, Peter;
    • Nakaguma, Marilena;
    • Hironori Bando;
    • Patti, Giuseppa;
    • McCabe, Mark J.;
    • Qing Fang;
    • Qianyi Ma;
    • Ozel, Ayse Bilge;
    • Li, Jun Z.;
    • Poina, Michele Moreira;
    • Jorge, Alexander A. L.;
    • Figueredo Benedetti, Anna F.;
    • Lerario, Antonio M.;
    • Arnhold, Ivo J. P.;
    • Mendonca, Berenice B.;
    • Maghnie, Mohamad;
    • Camper, Sally A.;
    • Carvalho, Luciani R. S.;
    • Dattani, Mehul T.
    Publication type:
    Article

  • SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas.

    Published in:
    2021
    By:
    • Petenuci, Janaina;
    • Fagundes, Gustavo F. C.;
    • Benedetti, Anna Flavia F.;
    • Guimaraes, Augusto G.;
    • Afonso, Ana Caroline F.;
    • Mota, Flavia T.;
    • Magalhães, Aurea Luiza F.;
    • Coura-Filho, George B.;
    • Zerbini, Maria Claudia N.;
    • Siqueira, Sheila;
    • Montenegro, Fabio L. M.;
    • Srougi, Victor;
    • Tanno, Fabio Y.;
    • Chambo, Jose Luis;
    • Ferrari, Marcela S. S.;
    • Bezerra Neto, Joao Evangelista;
    • Pereira, Maria Adelaide A.;
    • Latronico, Ana Claudia;
    • Fragoso, Maria Candida B. V.;
    • Mendonca, Berenice B.
    Publication type:
    Letter

  • Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

    Published in:
    Clinical Endocrinology, 2021, v. 95, n. 1, p. 117, doi. 10.1111/cen.14467
    By:
    • Petenuci, Janaina;
    • Guimaraes, Augusto G.;
    • Fagundes, Gustavo F.C.;
    • Benedetti, Anna Flavia F.;
    • Afonso, Ana Caroline F.;
    • Pereira, Maria Adelaide A.;
    • Zerbini, Maria Claudia N.;
    • Siqueira, Sheila;
    • Yamauchi, Fernando;
    • Soares, Silvia C.;
    • Srougi, Victor;
    • Tanno, Fabio Y.;
    • Chambo, Jose L.;
    • Lopes, Roberto I.;
    • Denes, Francisco T.;
    • Hoff, Ana O.;
    • Latronico, Ana Claudia;
    • Mendonca, Berenice B.;
    • Fragoso, Maria Candida B. V.;
    • Almeida, Madson Q.
    Publication type:
    Article

  • Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

    Published in:
    Clinical Endocrinology, 2017, v. 87, n. 6, p. 725, doi. 10.1111/cen.13430
    By:
    • Madeira, Joao LO;
    • Nishi, Mirian Y;
    • Nakaguma, Marilena;
    • Benedetti, Anna F;
    • Biscotto, Isabela Peixoto;
    • Fernandes, Thamiris;
    • Pequeno, Thiago;
    • Figueiredo, Thalita;
    • Franca, Marcela M;
    • Correa, Fernanda A;
    • Otto, Aline P;
    • Abrão, Milena;
    • Miras, Mirta B;
    • Santos, Silvana;
    • Jorge, Alexander AL;
    • Costalonga, Everlayny F;
    • Mendonca, Berenice B;
    • Arnhold, Ivo JP;
    • Carvalho, Luciani R
    Publication type:
    Article