Detalhe da pesquisa
1.
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Hum Mol Genet
; 28(10): 1620-1628, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608580
2.
Evaluation of SHOX defects in the era of next-generation sequencing.
Clin Genet
; 96(3): 261-265, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31219618
3.
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Clin Genet
; 95(1): 172-176, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30294972
4.
Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.
Clin Genet
; 94(5): 489-490, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193409
5.
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Clin Endocrinol (Oxf)
; 89(2): 164-177, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668062
6.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clin Endocrinol (Oxf)
; 87(6): 725-732, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28734020
7.
Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.
Arch Endocrinol Metab
; 68: e220395, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427811
8.
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
J Endocr Soc
; 6(9): bvac106, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35898701
9.
Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.
Clinics (Sao Paulo)
; 77: 100132, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36288632
10.
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Sex Dev
; 16(1): 46-54, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392242
11.
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
Sex Dev
; 16(1): 27-33, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518484
12.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
J Clin Endocrinol Metab
; 107(5): e1797-e1806, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134971
13.
Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
Pediatr Endocrinol Rev
; 8(2): 79-85, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21150837
14.
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
15.
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.
Eur J Med Genet
; 62(3): 186-189, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30006057
16.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Arch Endocrinol Metab
; 63(2): 167-174, 2019 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090814
17.
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 104(7): 2827-2841, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830215
18.
Androgen insensitivity syndrome: a review.
Arch Endocrinol Metab
; 62(2): 227-235, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768628
19.
46,XY disorder of sex development (DSD) due to 17ß-hydroxysteroid dehydrogenase type 3 deficiency.
J Steroid Biochem Mol Biol
; 165(Pt A): 79-85, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27163392
20.
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
Endocrine
; 58(3): 442-447, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29067606