Detalhe da pesquisa
1.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A
; 188(12): 3540-3545, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082874
2.
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
3.
Optimized nested PCR enhances biological diagnosis and phylogenetic analysis of human parvovirus B19 infections.
Arch Virol
; 164(11): 2775-2781, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31401693
4.
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2.
Arch Pediatr
; 31(2): 157-160, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38262861
5.
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
6.
Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
; 108(5): e129-e138, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36402139
7.
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
Front Endocrinol (Lausanne)
; 14: 1171822, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409232
8.
Changes in the clinical management of 5α-reductase type 2 and 17ß-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Endocr Connect
; 12(3)2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606580
9.
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
10.
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
11.
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.
Front Endocrinol (Lausanne)
; 13: 855082, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35432221
12.
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
13.
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
14.
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
J Clin Endocrinol Metab
; 94(2): 678-83, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18984668
15.
Letter to the Editor from Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 cause Congenital Adrenal Hypoplasia ¼.
J Clin Endocrinol Metab
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589987
16.
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.
Front Endocrinol (Lausanne)
; 10: 625, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31572304
17.
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Front Endocrinol (Lausanne)
; 9: 491, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30233493
18.
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
J Clin Endocrinol Metab
; 92(8): 2868-73, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17488792
19.
Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.
Adv Exp Med Biol
; 707: 15-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691946
20.
Evolution of steroids during pregnancy: Maternal, placental and fetal synthesis.
Ann Endocrinol (Paris)
; 77(2): 82-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27155772