Mullis PE - Search Results

1

Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).

Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE. Besson A, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2005 May;90(5):2493-9. doi: 10.1210/jc.2004-1838. Epub 2005 Feb 15. J Clin Endocrinol Metab. 2005. PMID: 15713716

2

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

Mullis PE, Robinson IC, Salemi S, Eblé A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G. Mullis PE, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2089-96. doi: 10.1210/jc.2004-1280. Epub 2005 Jan 25. J Clin Endocrinol Metab. 2005. PMID: 15671105

3

Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.

Salemi S, Yousefi S, Baltensperger K, Robinson IC, Eblé A, Simon D, Czernichow P, Binder G, Sonnet E, Mullis PE. Salemi S, et al. Among authors: mullis pe. Eur J Endocrinol. 2005 Dec;153(6):791-802. doi: 10.1530/eje.1.02041. Eur J Endocrinol. 2005. PMID: 16322384

4

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.

Salemi S, Yousefi S, Lochmatter D, Eblé A, Deladoëy J, Robinson IC, Simon HU, Mullis PE. Salemi S, et al. Among authors: mullis pe. Endocrinology. 2007 Jan;148(1):45-53. doi: 10.1210/en.2006-0772. Epub 2006 Oct 12. Endocrinology. 2007. PMID: 17038549

5

Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.

Petkovic V, Besson A, Thevis M, Lochmatter D, Eblé A, Flück CE, Mullis PE. Petkovic V, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2007 Aug;92(8):2893-901. doi: 10.1210/jc.2006-2238. Epub 2007 May 22. J Clin Endocrinol Metab. 2007. PMID: 17519310

6

Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.

Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, Eblé A, Robinson IC, Flück CE, Mullis PE. Petkovic V, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2007 Nov;92(11):4427-35. doi: 10.1210/jc.2007-0857. Epub 2007 Aug 28. J Clin Endocrinol Metab. 2007. PMID: 17726075

7

GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity.

Petkovic V, Thevis M, Lochmatter D, Besson A, Eblé A, Flück CE, Mullis PE. Petkovic V, et al. Among authors: mullis pe. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S67-74. doi: 10.1530/EJE-07-0339. Eur J Endocrinol. 2007. PMID: 17785701

8

Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency.

Räz B, Janner M, Petkovic V, Lochmatter D, Eblé A, Dattani MT, Hindmarsh PC, Flück CE, Mullis PE. Räz B, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2008 Mar;93(3):974-80. doi: 10.1210/jc.2007-1382. Epub 2007 Nov 20. J Clin Endocrinol Metab. 2008. PMID: 18029459 Free article.

9

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.

Petkovic V, Godi M, Pandey AV, Lochmatter D, Buchanan CR, Dattani MT, Eblé A, Flück CE, Mullis PE. Petkovic V, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2010 Feb;95(2):731-9. doi: 10.1210/jc.2009-1247. Epub 2009 Dec 1. J Clin Endocrinol Metab. 2010. PMID: 19952226

10

Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations.

Petkovic V, Godi M, Lochmatter D, Eblé A, Flück CE, Robinson IC, Mullis PE. Petkovic V, et al. Among authors: mullis pe. Endocrinology. 2010 Jun;151(6):2650-8. doi: 10.1210/en.2009-1280. Epub 2010 Mar 29. Endocrinology. 2010. PMID: 20351314

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