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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
A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.
Published in:
2019
By:
- dos Reis Monteiro, Maria Luíza Gonçalves;
- Custódio, Fabiano Bichuette;
- de Menezes Neves, Precil Diego Miranda;
- Ferreira, Frederico Moraes;
- Watanabe, Elieser Hitoshi;
- Lerário, Antônio Marcondes;
- de Araújo, Liliane Silvano;
- Balbo, Bruno Eduardo Pedroso;
- Pinto, Vívian Christine Dourado;
- Barbosa, Lívia Maria Gruli;
- de Paiva Marques, Vilmar;
- Machado, Juliana Reis;
- Reis, Marlene Antônia;
- Onuchic, Luiz Fernando
Publication type:
journal article
Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Published in:
Clinical Endocrinology, 2018, v. 89, n. 2, p. 164, doi. 10.1111/cen.13717
By:
- Gomes, Nathalia L.;
- Lerário, Antônio Marcondes;
- Machado, Aline Zamboni;
- Moraes, Daniela Rodrigues de;
- Silva, Thatiana Evilen da;
- Arnhold, Ivo J. P.;
- Batista, Rafael Loch;
- Faria Júnior, José Antônio Diniz;
- Costa, Elaine F.;
- Nishi, Mirian Y.;
- Inacio, Marlene;
- Domenice, Sorahia;
- Mendonca, Berenice B.
Publication type:
Article

Found: 3

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

A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.