Naville D - Search Results

1

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ. Metherell LA, et al. Among authors: naville d. Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654338

2

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

Metherell LA, Cooray S, Huebner A, Ruschendorf F, Naville D, Begeot M, Clark AJ. Metherell LA, et al. Among authors: naville d. Endocr Res. 2004 Nov;30(4):889-90. doi: 10.1081/erc-200044136. Endocr Res. 2004. PMID: 15666841 No abstract available.

3

Genetics of ACTH insensitivity syndromes.

Clark JL, Metherell LA, Naville D, Begeot M, Huebner A. Clark JL, et al. Among authors: naville d. Ann Endocrinol (Paris). 2005 Jun;66(3):247-9. doi: 10.1016/s0003-4266(05)81757-3. Ann Endocrinol (Paris). 2005. PMID: 15988386 Review.

4

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.

Génin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Bégeot M, Naville D. Génin E, et al. Among authors: naville d. Hum Genet. 2002 Oct;111(4-5):428-34. doi: 10.1007/s00439-002-0806-3. Epub 2002 Aug 24. Hum Genet. 2002. PMID: 12384787

5

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ. Metherell LA, et al. Among authors: naville d. J Clin Endocrinol Metab. 2009 Oct;94(10):3865-71. doi: 10.1210/jc.2009-0467. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773404 Free PMC article.

6

Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).

Naville D, Weber A, Genin E, Durand P, Clark AJ, Bégeot M. Naville D, et al. J Clin Endocrinol Metab. 1998 Oct;83(10):3592-6. doi: 10.1210/jcem.83.10.5166. J Clin Endocrinol Metab. 1998. PMID: 9768670

7

Familial glucocorticoid deficiency type 2 in two neonates.

Ramachandran P, Penhoat A, Naville D, Begeot M, Osama Abdel-Wareth L, Reza Sedaghatian M. Ramachandran P, et al. Among authors: naville d. J Perinatol. 2003 Jan;23(1):62-6. doi: 10.1038/sj.jp.7210813. J Perinatol. 2003. PMID: 12556930

8

[ACTH resistance syndromes].

Naville D, Penhoat A, Bégeot M. Naville D, et al. Ann Endocrinol (Paris). 2000 Nov;61(5):428-39. Ann Endocrinol (Paris). 2000. PMID: 11084394 Review. French.

9

Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.

Tsiotra PC, Koukourava A, Kaltezioti V, Geffner ME, Naville D, Begeot M, Raptis SA, Tsigos C. Tsiotra PC, et al. Among authors: naville d. J Pediatr Endocrinol Metab. 2006 Sep;19(9):1157-66. doi: 10.1515/jpem.2006.19.9.1157. J Pediatr Endocrinol Metab. 2006. PMID: 17128564

10

Functional expression of the human ACTH receptor gene.

Penhoat A, Naville D, El Mourabit H, Buronfosse A, Durand P, Bégeot M. Penhoat A, et al. Among authors: naville d. Endocr Res. 2000 Nov;26(4):549-57. doi: 10.3109/07435800009048569. Endocr Res. 2000. PMID: 11196427

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