Metherell LA - Search Results

1

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: metherell la. 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.

2

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: metherell la. Clin Endocrinol (Oxf). 2000 Oct;53(4):423-30. doi: 10.1046/j.1365-2265.2000.01122.x. Clin Endocrinol (Oxf). 2000. PMID: 11012566

3

The molecular pathogenesis of ACTH insensitivity syndromes.

Clark AJ, Metherell L, Swords FM, Elias LL. Clark AJ, et al. Ann Endocrinol (Paris). 2001 Apr;62(2):207-11. Ann Endocrinol (Paris). 2001. PMID: 11353896 Review.

4

Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity.

Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJ, Albertsson-Wikland K, Savage MO. Bjarnason R, et al. Clin Endocrinol (Oxf). 2002 Sep;57(3):357-61. doi: 10.1046/j.1365-2265.2002.01607.x. Clin Endocrinol (Oxf). 2002. PMID: 12201828

5

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.

Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ. Metherell LA, et al. Eur J Endocrinol. 2004 Oct;151(4):463-5. doi: 10.1530/eje.0.1510463. Eur J Endocrinol. 2004. PMID: 15476446

6

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

7

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

8

Genetics of ACTH insensitivity syndromes.

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

9

Diagnostic and therapeutic advances in growth hormone insensitivity.

David A, Metherell LA, Clark AJ, Camacho-Hübner C, Savage MO. David A, et al. Among authors: metherell la. Endocrinol Metab Clin North Am. 2005 Sep;34(3):581-95, viii. doi: 10.1016/j.ecl.2005.04.009. Endocrinol Metab Clin North Am. 2005. PMID: 16085161 Review.

10

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.

Clark AJ, Metherell LA, Cheetham ME, Huebner A. Clark AJ, et al. Among authors: metherell la. 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.

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