Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
BMC Med Genet
; 11: 104, 2010 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587039
9.
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
10.
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
11.
PIP4KIIA and beta-globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease.
Eur J Haematol
; 83(5): 490-3, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19656170
12.
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
13.
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
J Pediatr Endocrinol Metab
; 21(5): 487-94, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18655532
14.
A Search for Disorders of Sex Development among Infertile Men.
Sex Dev
; 12(6): 275-280, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372699
15.
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
16.
NPHS2 Mutations: A Closer Look to Latin American Countries.
Biomed Res Int
; 2017: 7518789, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28785586
17.
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
Sex Dev
; 11(5-6): 238-247, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237170
18.
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
Sex Dev
; 11(3): 137-142, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28591755
19.
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome.
Am J Med Genet A
; 155A(2): 450-4, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271672
20.
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Sex Dev
; 10(4): 191-199, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27463801