Flück CE - Search Results

1

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE; SF1next study group. Kouri C, et al. Among authors: fluck ce. EBioMedicine. 2024 Jan;99:104941. doi: 10.1016/j.ebiom.2023.104941. Epub 2024 Jan 1. EBioMedicine. 2024. PMID: 38168586 Free PMC 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

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.

4

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

5

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.

6

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.

7

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.

8

Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study.

Bieri A, Oser-Meier M, Janner M, Cripe-Mamie C, Pipczynski-Suter K, Mullis PE, Flück CE. Bieri A, et al. Among authors: fluck ce. Int J Pediatr Endocrinol. 2013 Dec 17;2013(1):21. doi: 10.1186/1687-9856-2013-21. Int J Pediatr Endocrinol. 2013. PMID: 24344648 Free PMC article.

9

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.

Malikova J, Flück CE. Malikova J, et al. Among authors: fluck ce. Horm Res Paediatr. 2014;82(3):145-57. doi: 10.1159/000363107. Epub 2014 Aug 1. Horm Res Paediatr. 2014. PMID: 25096886 Free article. Review.

10

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Malikova J, Camats N, Fernández-Cancio M, Heath K, González I, Caimarí M, del Campo M, Albisu M, Kolouskova S, Audí L, Flück CE. Malikova J, et al. Among authors: fluck ce. PLoS One. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PLoS One. 2014. PMID: 25122490 Free PMC article.

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