Huebner A - Search Results

1

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.

2

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

3

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.

Clark AJ, Metherell LA, Cheetham ME, Huebner A. Clark AJ, et al. Among authors: huebner a. Trends Endocrinol Metab. 2005 Dec;16(10):451-7. doi: 10.1016/j.tem.2005.10.006. Epub 2005 Nov 3. Trends Endocrinol Metab. 2005. PMID: 16271481 Review.

4

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.

5

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

6

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.

7

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

8

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: huebner a. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.

9

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJ, Stratakis CA, Huebner A, Hammer GD. Keegan CE, et al. Among authors: huebner a. Clin Endocrinol (Oxf). 2007 Aug;67(2):168-74. doi: 10.1111/j.1365-2265.2007.02855.x. Epub 2007 Apr 27. Clin Endocrinol (Oxf). 2007. PMID: 17466001 Free article.

10

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

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