Detalhe da pesquisa
1.
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds.
Hum Reprod
; 39(5): 1003-1012, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514451
2.
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics.
J Pediatr Endocrinol Metab
; 36(5): 478-483, 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948219
3.
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
4.
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
5.
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Eur J Endocrinol
; 187(6): 787-795, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201163
6.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Orphanet J Rare Dis
; 17(Suppl 1): 261, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821070
7.
Congenital Hypothyroidism due to a Low Level of Maternal Thyrotropin Receptor-Blocking Antibodies.
Eur Thyroid J
; 10(2): 174-178, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33981622
8.
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
9.
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Mol Cell Endocrinol
; 254-255: 78-83, 2006 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-16757108
10.
Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.
J Pediatr Endocrinol Metab
; 29(12): 1379-1388, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852974
11.
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Orphanet J Rare Dis
; 11: 26, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27004399
12.
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
J Clin Endocrinol Metab
; 89(10): 4829-32, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15472171
13.
Predictive value of maternal second-generation thyroid-binding inhibitory immunoglobulin assay for neonatal autoimmune hyperthyroidism.
Eur J Endocrinol
; 171(4): 451-60, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214232
14.
Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.
J Pediatr Urol
; 10(5): 941-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679821