Detalhe da pesquisa
1.
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Diabetes Obes Metab
; 24(8): 1565-1577, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445532
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.
Correction to: Plea for a standardized imaging approach to disorders of sex development in neonates: Consensus proposal from European Society of Paediatric Radiology task force.
Pediatr Radiol
; 49(9): 1248, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227840
4.
Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.
Pediatr Radiol
; 49(9): 1240-1247, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123767
5.
Lessons from prospective longitudinal follow-up of a French APECED cohort.
J Clin Endocrinol Metab
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605470
6.
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
7.
Defining Reference Ranges for Serum Anti-Müllerian Hormone on a Large Cohort of Normozoospermic Adult Men Highlights New Potential Physiological Functions of AMH on FSH Secretion and Sperm Motility.
J Clin Endocrinol Metab
; 107(7): 1878-1887, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396994
8.
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.
Int J Pediatr Endocrinol
; 2017: 3, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28149309
9.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Eur J Hum Genet
; 25(8): 1011-1014, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589944
10.
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
J Clin Endocrinol Metab
; 100(6): 2303-13, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25822101
11.
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
Am J Med Genet
; 111(4): 405-8, 2002 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12210300
12.
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
J Clin Endocrinol Metab
; 96(2): 296-307, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21147889