Detalhe da pesquisa
1.
In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.
Reprod Biomed Online
; 40(1): 151-159, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831369
2.
Disorder of sex development with germ cell tumors: Which is uncovered first?
Pediatr Blood Cancer
; 67(4): e28169, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020769
3.
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
Am J Med Genet A
; 173(3): 654-660, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160395
4.
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
Indian J Med Res
; 145(2): 194-202, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28639595
5.
A novel morphological approach to gonads in disorders of sex development.
Mod Pathol
; 29(11): 1399-1414, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27469328
6.
Effect of dietary protein on plasma insulin-like growth factor-1, growth, and body composition in healthy term infants: a randomised, double-blind, controlled trial (Early Protein and Obesity in Childhood (EPOCH) study).
Br J Nutr
; 115(2): 271-84, 2016 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26586096
7.
The effect of patient, provider and financing regulations on the intensity of ambulatory physical therapy episodes: a multilevel analysis based on routinely available data.
BMC Health Serv Res
; 15: 52, 2015 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25889368
8.
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Am J Med Genet A
; 164A(10): 2618-22, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975717
9.
Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.
J Clin Invest
; 133(4)2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538378
10.
Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss-of-function mutation.
Clin Endocrinol (Oxf)
; 77(4): 593-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22469007
11.
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
Eur J Pediatr
; 171(5): 787-93, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083155
12.
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
J Med Genet
; 48(12): 825-30, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22051515
13.
Genotype, Mortality, Morbidity, and Outcomes of 3ß-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Front Endocrinol (Lausanne)
; 13: 867073, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35757411
14.
Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
J Pediatr Endocrinol Metab
; 35(6): 777-783, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499511
15.
Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency.
Biochem Biophys Res Commun
; 412(4): 572-7, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21843508
16.
Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.
Gynecol Endocrinol
; 26(5): 319-24, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059433
17.
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Horm Res Paediatr
; 93(1): 30-39, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32454486
18.
Observational study of disorders of sex development in Yaounde, Cameroon.
J Pediatr Endocrinol Metab
; 33(3): 417-423, 2020 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32069241
19.
Preoperative Topical Estrogen Treatment vs Placebo in 244 Children With Midshaft and Posterior Hypospadias.
J Clin Endocrinol Metab
; 105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386308
20.
Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665349