Flück CE - Search Results

1

Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.

Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE; SF1next study group. Naamneh Elzenaty R, et al. Among authors: fluck ce. J Clin Endocrinol Metab. 2024 Apr 16:dgae251. doi: 10.1210/clinem/dgae251. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38623954 Free article.

2

Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.

Janner M, Pandey AV, Mullis PE, Flück CE. Janner M, et al. Among authors: fluck ce. Eur J Endocrinol. 2006 Jul;155(1):143-51. doi: 10.1530/eje.1.02172. Eur J Endocrinol. 2006. PMID: 16793961

3

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: fluck ce. 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

4

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: fluck ce. 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.

5

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: fluck ce. 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

6

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes.

Janner M, Ballinari P, Mullis PE, Flück CE. Janner M, et al. Among authors: fluck ce. Swiss Med Wkly. 2010 Sep 3;140:w13091. doi: 10.4414/smw.2010.13091. eCollection 2010. Swiss Med Wkly. 2010. PMID: 20853194 Free article.

7

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

Hirsch A, Meimaridou E, Fernandez-Cancio M, Pandey AV, Clemente M, Audi L, Clark AJ, Flück CE. Hirsch A, et al. Among authors: fluck ce. J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. doi: 10.1210/jc.2010-1056. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962024

8

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE, Pandey AV, Dick B, Camats N, Fernández-Cancio M, Clemente M, Gussinyé M, Carrascosa A, Mullis PE, Audi L. Flück CE, et al. PLoS One. 2011;6(5):e20178. doi: 10.1371/journal.pone.0020178. Epub 2011 May 27. PLoS One. 2011. PMID: 21647419 Free PMC article.

9

Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.

Janner M, Flück CE, Mullis PE. Janner M, et al. Among authors: fluck ce. Horm Res Paediatr. 2012;78(4):261-8. doi: 10.1159/000341585. Epub 2012 Sep 6. Horm Res Paediatr. 2012. PMID: 22964562 Free article.

10

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE. Camats N, et al. Among authors: fluck ce. Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Clin Endocrinol (Oxf). 2014. PMID: 23859637 Review.

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