Metherell L - Search Results

1

Adrenocorticotropin resistance syndromes.

Cooray SN, Chan L, Metherell L, Storr H, Clark AJL. Cooray SN, et al. Among authors: metherell l. Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Endocr Dev. 2008. PMID: 18493136 Review.

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. Among authors: metherell l. Ann Endocrinol (Paris). 2001 Apr;62(2):207-11. Ann Endocrinol (Paris). 2001. PMID: 11353896 Review.

4

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.

Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ. Metherell LA, et al. Am J Hum Genet. 2001 Sep;69(3):641-6. doi: 10.1086/323266. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468686 Free PMC article.

5

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.

Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJ, Camacho-Hübner C. Savage MO, et al. Among authors: metherell l. Horm Res. 2001;55 Suppl 2:32-5. doi: 10.1159/000063471. Horm Res. 2001. PMID: 11684873 Review.

6

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. Among authors: metherell l. Clin Endocrinol (Oxf). 2002 Sep;57(3):357-61. doi: 10.1046/j.1365-2265.2002.01607.x. Clin Endocrinol (Oxf). 2002. PMID: 12201828

7

Phenotypic variability in growth hormone insensitivity.

Savage MO, Blair JC, Burren CP, Camacho-Hübner C, Woods KA, Metherell L, Clark AJ. Savage MO, et al. Among authors: metherell l. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1449-50. J Pediatr Endocrinol Metab. 2002. PMID: 12511007 No abstract available.

8

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

9

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

10

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.

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