Metherell LA - Search Results

1

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.

Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Basiri IA, Rose SJ, Mason A, Bint S, Ahn JW, Hwa V, Metherell LA, Moore GE, Storr HL. Cottrell E, et al. Among authors: metherell la. Eur J Endocrinol. 2020 Dec;183(6):581-595. doi: 10.1530/EJE-20-0474. Eur J Endocrinol. 2020. PMID: 33055295 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

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.

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

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.

7

Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.

Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hübner C. Savage MO, et al. Among authors: metherell la. Nat Clin Pract Endocrinol Metab. 2006 Jul;2(7):395-407. doi: 10.1038/ncpendmet0195. Nat Clin Pract Endocrinol Metab. 2006. PMID: 16932322 Review.

8

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

9

Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.

Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG. Hwa V, et al. Among authors: metherell la. Horm Res. 2007;68(5):218-24. doi: 10.1159/000101334. Epub 2007 Mar 28. Horm Res. 2007. PMID: 17389811

10

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ. Savage MO, et al. Among authors: metherell la. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S33-7. doi: 10.1530/EJE-07-0292. Eur J Endocrinol. 2007. PMID: 17785695 Review.

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