Detalhe da pesquisa
1.
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.
Clin Endocrinol (Oxf)
; 96(2): 165-174, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668586
2.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Int J Mol Sci
; 24(1)2022 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613932
3.
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
4.
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
BMC Med Genet
; 16: 88, 2015 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420286
5.
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Eur J Endocrinol
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38748847
6.
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
7.
Mutations in NR5A1 associated with ovarian insufficiency.
N Engl J Med
; 360(12): 1200-10, 2009 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19246354
8.
Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin.
Sex Dev
; 16(4): 266-269, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34903701
9.
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
10.
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
11.
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
PLoS One
; 15(10): e0240795, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095795
12.
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
13.
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
14.
Turner's syndrome and subclinical autoimmune thyroid disease: a two-year follow-up study.
J Pediatr Endocrinol Metab
; 22(2): 109-18, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449668
15.
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.
Sex Dev
; 13(4): 171-177, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816618
16.
Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development.
Sex Dev
; 12(1-3): 95-99, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848186
17.
Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience.
J Pediatr Endocrinol Metab
; 31(2): 167-173, 2018 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29303780
18.
A Search for Disorders of Sex Development among Infertile Men.
Sex Dev
; 12(6): 275-280, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372699
19.
The role of the pediatrician in the management of children with genital ambiguities.
J Pediatr (Rio J)
; 83(5 Suppl): S184-91, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17973056
20.
[Evidences for subclinic chronic autoimmune thyroid disease in girls with Turner Syndrome]. / Evidências de doença tireóidea auto-imune crônica subclínica em portadoras da Síndrome de Turner.
Arq Bras Endocrinol Metabol
; 51(3): 401-9, 2007 Apr.
Artigo
em Português
| MEDLINE | ID: mdl-17546238