Detalhe da pesquisa
1.
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
Int J Mol Sci
; 25(6)2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542117
2.
Development and function of the fetal adrenal.
Rev Endocr Metab Disord
; 24(1): 5-21, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255414
3.
Genetics of human sexual development and related disorders.
Curr Opin Pediatr
; 33(6): 556-563, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34654048
4.
Health behaviour of women with Turner Syndrome.
Acta Paediatr
; 110(8): 2424-2429, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615554
5.
Lopinavir-Ritonavir Impairs Adrenal Function in Infants.
Clin Infect Dis
; 71(4): 1030-1039, 2020 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633158
6.
Molecular Aspects of Sex Development in Mammals: New Insight for Practice.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266346
7.
Oligogenic Origin of Differences of Sex Development in Humans.
Int J Mol Sci
; 21(5)2020 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32155719
8.
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.
Int J Mol Sci
; 21(16)2020 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32824094
9.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Int J Mol Sci
; 21(17)2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867102
10.
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
Int J Mol Sci
; 21(22)2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202802
11.
Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency.
Proc Natl Acad Sci U S A
; 117(26): 14632-14633, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576700
12.
Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.
Gynecol Endocrinol
; 31(5): 349-54, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25585547
13.
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
Am J Hum Genet
; 89(2): 201-18, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802064
14.
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Clin Endocrinol (Oxf)
; 80(2): 191-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23859637
15.
Update on Adrenarche - Still a Mystery.
J Clin Endocrinol Metab
; 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181424
16.
Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.
J Clin Endocrinol Metab
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623954
17.
Accelerated Early Childhood Growth Is Associated With the Development of Earlier Adrenarche and Puberty.
J Endocr Soc
; 8(4): bvae026, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425434
18.
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
EBioMedicine
; 99: 104941, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168586
19.
Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis.
Endocrinology
; 165(3)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301271
20.
NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.
Drug Metab Dispos
; 41(1): 12-23, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086197