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Nicolas de Roux

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Articles 50
Citations 1716
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Recent Articles
1.
Georges E, Chevenne D, Drira L, de Roux N, Taibi L
Ann Biol Clin (Paris) . 2025 Feb; 82(6):651-660. PMID: 39898848
The preservation of blood capital is essential in many clinical situations. The laboratory, by optimizing the tubes to be sampled, provides valuable assistance in this context. The aim of this...
2.
Delcour C, Khawaja N, Gonzalez-Duque S, Lebon S, Talbi A, Drira L, et al.
J Clin Endocrinol Metab . 2022 Feb; 107(6):e2553-e2562. PMID: 35134944
Context: Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and β receptors (ER) and by membrane receptors. Only 3 females and 2 males, from...
3.
Leka-Emiri S, Taibi L, Mavroeidi V, Vlachopapadopoulou E, Kafetzi M, Michalacos S, et al.
Sex Dev . 2021 Oct; 16(1):64-69. PMID: 34628416
Deficiency of 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2) is a rare type of congenital adrenal hyperplasia (CAH), causing impaired steroid hormone production in both adrenals and gonads. Phenotype ranges, according to...
4.
Leger J, Delcour C, de Roux N, Carel J
Eur J Endocrinol . 2021 May; 185(1):L3-L4. PMID: 33950860
No abstract available.
5.
Benlarbi H, Simon D, Rosenblatt J, Dumaine C, de Roux N, Chevenne D, et al.
Eur J Endocrinol . 2021 Jan; 184(3):427-436. PMID: 33465046
Objective: Neonatal hyperthyroidism may be caused by a permanent non-autoimmune genetic disorder or, more frequently, by maternally transmitted high serum TRAb levels. Variable thyroid dysfunction may be observed in this...
6.
Harbulot C, Lessim S, Simon D, Martinerie L, Storey C, Ecosse E, et al.
Eur J Endocrinol . 2020 Nov; 184(2):243-251. PMID: 33156813
Objective: Isolated central precocious puberty (CPP) includes sporadic, familial and adoption-related forms, and the characterization of its etiology is challenging. This study investigated the prevalence and clinical characteristics of isolated...
7.
Wannes S, Elmaleh-Berges M, Simon D, Zenaty D, Martinerie L, Storey C, et al.
Eur J Endocrinol . 2018 Oct; 179(6):373-380. PMID: 30324796
Objective Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types...
8.
Hugon-Rodin J, Yoshii K, Lahlou N, Flandrin J, Gompel A, de Roux N
J Clin Endocrinol Metab . 2018 Aug; 103(12):4482-4490. PMID: 30124894
Context: Mutations in the kisspeptin receptor (KISS1R) gene have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). Objectives: To describe a female patient with...
9.
Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, et al.
Eur J Hum Genet . 2017 Jun; 25(8):1011-1014. PMID: 28589944
CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients...
10.
Tata B, Harbulot C, Csaba Z, Peineau S, Jacquier S, de Roux N
Sci Rep . 2017 Feb; 7:42463. PMID: 28209974
A few hundred hypothalamic neurons form a complex network that controls reproduction in mammals by secreting gonadotropin-releasing hormone (GnRH). Timely postnatal changes in GnRH secretion are essential for pubertal onset....