Clark AJ - Search Results

1

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: clark aj. Hum Mol Genet. 2001 Feb 1;10(3):283-90. doi: 10.1093/hmg/10.3.283. Hum Mol Genet. 2001. PMID: 11159947

2

Triple A syndrome--clinical aspects and molecular genetics.

Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K. Huebner A, et al. Among authors: clark aj. Endocr Res. 2000 Nov;26(4):751-9. doi: 10.3109/07435800009048596. Endocr Res. 2000. PMID: 11196451

3

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: clark aj. 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

4

ACTH resistance syndromes.

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

5

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.

Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A, Clark AJ. Weber A, et al. Among authors: clark aj. Hum Mol Genet. 1996 Dec;5(12):2061-6. doi: 10.1093/hmg/5.12.2061. Hum Mol Genet. 1996. PMID: 8968764

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: clark aj. 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

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

8

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: clark aj. 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.

9

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ. Storr HL, et al. Among authors: clark aj. Mol Endocrinol. 2009 Dec;23(12):2086-94. doi: 10.1210/me.2009-0056. Epub 2009 Oct 23. Mol Endocrinol. 2009. PMID: 19855093 Free PMC article.

10

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: clark aj. 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.

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