Huebner A - Search Results

1

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: huebner a. 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.

2

Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.

Elias LL, Huebner A, Pullinger GD, Mirtella A, Clark AJ. Elias LL, et al. Among authors: huebner a. J Clin Endocrinol Metab. 1999 Aug;84(8):2766-70. doi: 10.1210/jcem.84.8.5924. J Clin Endocrinol Metab. 1999. PMID: 10443676

3

ACTH resistance syndromes.

Huebner A, Elias LL, Clark AJ. Huebner A, et al. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:277-93. J Pediatr Endocrinol Metab. 1999. PMID: 10698592 Review.

4

Tall stature in familial glucocorticoid deficiency.

Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani S, Clayton PE, Savage MO, Clark AJ. Elias LL, et al. Among authors: huebner a. Clin Endocrinol (Oxf). 2000 Oct;53(4):423-30. doi: 10.1046/j.1365-2265.2000.01122.x. Clin Endocrinol (Oxf). 2000. PMID: 11012566

5

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Handschug K, et al. Among authors: huebner a. Hum Mol Genet. 2001 Feb 1;10(3):283-90. doi: 10.1093/hmg/10.3.283. Hum Mol Genet. 2001. PMID: 11159947

6

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: huebner a. 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

7

Chromosomal fragility in patients with triple A syndrome.

Reshmi-Skarja S, Huebner A, Handschug K, Finegold DN, Clark AJ, Gollin SM. Reshmi-Skarja S, et al. Among authors: huebner a. Am J Med Genet A. 2003 Feb 15;117A(1):30-6. doi: 10.1002/ajmg.a.10846. Am J Med Genet A. 2003. PMID: 12548737

8

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: huebner a. Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654338

9

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: huebner a. Endocr Res. 2004 Nov;30(4):889-90. doi: 10.1081/erc-200044136. Endocr Res. 2004. PMID: 15666841 No abstract available.

10

Genetics of ACTH insensitivity syndromes.

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

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