Metherell LA - Search Results

1

An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.

David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA. David A, et al. Among authors: metherell la. J Clin Endocrinol Metab. 2007 Feb;92(2):655-9. doi: 10.1210/jc.2006-1527. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148568

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

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. 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. 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. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1449-50. J Pediatr Endocrinol Metab. 2002. PMID: 12511007 No abstract available.

8

Reduced expression of the growth hormone and type 1 insulin-like growth factor receptors in human somatotroph tumours and an analysis of possible mutations of the growth hormone receptor.

Kola B, Korbonits M, Diaz-Cano S, Kaltsas G, Morris DG, Jordan S, Metherell L, Powell M, Czirják S, Arnaldi G, Bustin S, Boscaro M, Mantero F, Grossman AB. Kola B, et al. Clin Endocrinol (Oxf). 2003 Sep;59(3):328-38. doi: 10.1046/j.1365-2265.2003.01851.x. Clin Endocrinol (Oxf). 2003. PMID: 12919156

9

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.

Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier M, Clark AJ, Ross RJ, Webb SM. Milward A, et al. J Clin Endocrinol Metab. 2004 Mar;89(3):1259-66. doi: 10.1210/jc.2003-031418. J Clin Endocrinol Metab. 2004. PMID: 15001620

10

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

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