de Roux N - Search Results

1

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

Castanet M, Sura-Trueba S, Chauty A, Carré A, de Roux N, Heath S, Léger J, Lyonnet S, Czernichow P, Polak M. Castanet M, et al. Among authors: de roux n. Eur J Hum Genet. 2005 Feb;13(2):232-9. doi: 10.1038/sj.ejhg.5201321. Eur J Hum Genet. 2005. PMID: 15547625

2

An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

Sura-Trueba S, Aumas C, Carre A, Durif S, Leger J, Polak M, de Roux N. Sura-Trueba S, et al. Among authors: de roux n. Endocrinology. 2009 Feb;150(2):1043-50. doi: 10.1210/en.2008-1145. Epub 2008 Oct 16. Endocrinology. 2009. PMID: 18927215

3

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M. Ramos HE, et al. Among authors: de roux n. Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006. Eur J Endocrinol. 2014. PMID: 25214233

4

Pituitary-thyroid feedback in a patient with a sporadic activating thyrotropin (TSH) receptor mutation: implication that thyroid-secreted factors other than thyroid hormones contribute to serum TSH levels.

Gelwane G, de Roux N, Chevenne D, Carel JC, Léger J. Gelwane G, et al. Among authors: de roux n. J Clin Endocrinol Metab. 2009 Aug;94(8):2787-91. doi: 10.1210/jc.2008-2524. Epub 2009 May 19. J Clin Endocrinol Metab. 2009. PMID: 19454581

5

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.

Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE. Cerqueira TL, et al. Among authors: de roux n. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):777-84. doi: 10.1515/jpem-2014-0194. J Pediatr Endocrinol Metab. 2015. PMID: 25153578

6

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

Zenaty D, Bretones P, Lambe C, Guemas I, David M, Léger J, de Roux N. Zenaty D, et al. Among authors: de roux n. Mol Cell Endocrinol. 2006 Jul 25;254-255:78-83. doi: 10.1016/j.mce.2006.04.006. Epub 2006 Jun 6. Mol Cell Endocrinol. 2006. PMID: 16757108

7

[Congenital hypogonadotropic hypogonadism].

Roze C, Touraine P, Leger J, de Roux N. Roze C, et al. Among authors: de roux n. Ann Endocrinol (Paris). 2009 Mar;70(1):2-13. doi: 10.1016/j.ando.2008.06.005. Epub 2009 Feb 5. Ann Endocrinol (Paris). 2009. PMID: 19200533 French.

8

Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center.

Harbulot C, Lessim S, Simon D, Martinerie L, Storey C, Ecosse E, De Roux N, Carel JC, Léger J. Harbulot C, et al. Among authors: de roux n. Eur J Endocrinol. 2021 Feb;184(2):243-251. doi: 10.1530/EJE-20-0862. Eur J Endocrinol. 2021. PMID: 33156813

9

Response to Letter to the Editor from De Zegher and Ibanes: On the rising incidence of early breast development.

Léger J, Delcour C, de Roux N, Carel JC. Léger J, et al. Among authors: de roux n. Eur J Endocrinol. 2021 May 28;185(1):L3-L4. doi: 10.1530/EJE-21-0445. Eur J Endocrinol. 2021. PMID: 33950860 No abstract available.

10

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M. de Roux N, et al. J Clin Endocrinol Metab. 1996 Jun;81(6):2023-6. doi: 10.1210/jcem.81.6.8964822. J Clin Endocrinol Metab. 1996. PMID: 8964822

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