Riepe FG - Search Results

1

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG. Menabò S, et al. Among authors: riepe fg. Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11. Eur J Hum Genet. 2014. PMID: 24022297 Free PMC article.

2

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2005 Jan;90(1):445-54. doi: 10.1210/jc.2004-0813. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483094

3

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.

Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2. J Clin Endocrinol Metab. 2006. PMID: 16670167

4

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G, Clayton P, Grötzinger J, Holterhus PM, Riepe FG. Welzel M, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2008 Apr;93(4):1418-25. doi: 10.1210/jc.2007-1874. Epub 2008 Feb 5. J Clin Endocrinol Metab. 2008. PMID: 18252794

5

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM. Riepe FG, et al. J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29. J Clin Endocrinol Metab. 2008. PMID: 18445671

6

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG. Krone N, et al. Among authors: riepe fg. Horm Res. 2009;72(5):281-6. doi: 10.1159/000245930. Epub 2009 Oct 19. Horm Res. 2009. PMID: 19844114

7

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, Nuri Ozbek M, Leuschner I, Grötzinger J, Holterhus PM, Riepe FG. Bens S, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2010 Mar;95(3):1301-8. doi: 10.1210/jc.2009-1176. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080861

8

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.

Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG. Yüksel B, et al. Among authors: riepe fg. Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1. Horm Res Paediatr. 2013. PMID: 23920000 Clinical Trial.

9

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grötzinger J, Holterhus PM, Riepe FG. Polat S, et al. Among authors: riepe fg. Eur J Endocrinol. 2014 Apr 10;170(5):697-706. doi: 10.1530/EJE-13-0737. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24536089

10

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG. Menabò S, et al. Among authors: riepe fg. Eur J Hum Genet. 2020 May;28(5):692. doi: 10.1038/s41431-020-0587-y. Eur J Hum Genet. 2020. PMID: 32071409 Free PMC article.

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