Detalhe da pesquisa
1.
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Nephrology (Carlton)
; 21(9): 753-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560236
2.
Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.
J Pediatr (Rio J)
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38823786
3.
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
Biochem Biophys Res Commun
; 441(2): 371-6, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24161391
4.
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Sex Dev
; 16(4): 252-260, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764069
5.
Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.
Sex Dev
; 16(4): 236-241, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172315
6.
Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.
Sex Dev
; 14(1-6): 3-11, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652437
7.
Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.
J Pediatr (Rio J)
; 96(5): 607-613, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31254527
8.
A Search for Disorders of Sex Development among Infertile Men.
Sex Dev
; 12(6): 275-280, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372699
9.
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.
Sex Dev
; 11(1): 34-39, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081536
10.
Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI).
Kidney Int Rep
; 5(3): 358-362, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154457
11.
Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service / Por que os pediatras precisam conhecer os distúrbios da diferenciação do sexo: experiência de 709 casos de um serviço especializado
J. pediatr. (Rio J.)
; 96(5): 607-613, Set.-Dec. 2020. tab
Artigo
em Inglês
| LILACS, Coleciona SUS (Brasil), SES-SP | ID: biblio-1135058