Metherell LA - Search Results

1

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. Among authors: metherell la. J Clin Endocrinol Metab. 2021 Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34453441

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

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.

5

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

6

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.

7

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

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

Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.

Hui HN, Metherell LA, Ng KL, Savage MO, Camacho-Hübner C, Clark AJ. Hui HN, et al. Among authors: metherell la. J Pediatr Endocrinol Metab. 2005 Feb;18(2):209-13. doi: 10.1515/jpem.2005.18.2.209. J Pediatr Endocrinol Metab. 2005. PMID: 15751611

10

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.

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