De Roux N - Search Results

1

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

2

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

3

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

4

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

5

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

6

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Simon D, Ba I, Mekhail N, Ecosse E, Paulsen A, Zenaty D, Houang M, Jesuran Perelroizen M, de Filippo GP, Salerno M, Simonin G, Reynaud R, Carel JC, Léger J, de Roux N. Simon D, et al. Among authors: de filippo gp, de roux n. Eur J Endocrinol. 2016 Jan;174(1):1-8. doi: 10.1530/EJE-15-0488. Epub 2015 Oct 1. Eur J Endocrinol. 2016. PMID: 26431553

7

GnRH receptor mutations in isolated gonadotropic deficiency.

Chevrier L, Guimiot F, de Roux N. Chevrier L, et al. Among authors: de roux n. Mol Cell Endocrinol. 2011 Oct 22;346(1-2):21-8. doi: 10.1016/j.mce.2011.04.018. Epub 2011 Apr 30. Mol Cell Endocrinol. 2011. PMID: 21645587 Review.

8

Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism.

Benlarbi H, Simon D, Rosenblatt J, Dumaine C, de Roux N, Chevenne D, Storey C, Poidvin A, Martinerie L, Carel JC, Léger J. Benlarbi H, et al. Among authors: de roux n. Eur J Endocrinol. 2021 Mar;184(3):427-436. doi: 10.1530/EJE-20-1320. Eur J Endocrinol. 2021. PMID: 33465046

9

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

10

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.

Wannes S, Elmaleh-Bergès M, Simon D, Zénaty D, Martinerie L, Storey C, Gelwane G, Paulsen A, Ecosse E, De Roux N, Carel JC, Léger J. Wannes S, et al. Among authors: de roux n. Eur J Endocrinol. 2018 Dec 1;179(6):373-380. doi: 10.1530/EJE-18-0613. Eur J Endocrinol. 2018. PMID: 30324796

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

77 results

Search Page

Filters