Holterhus PM - Search Results

1

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: holterhus pm. 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.

2

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D. Hiort O, et al. Among authors: holterhus pm. J Clin Endocrinol Metab. 2005 Jan;90(1):538-41. doi: 10.1210/jc.2004-1059. Epub 2004 Oct 26. J Clin Endocrinol Metab. 2005. PMID: 15507506

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: holterhus pm. 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

Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.

Riepe FG, Holterhus PM. Riepe FG, et al. Among authors: holterhus pm. Am J Nephrol. 2007;27(2):164-9. doi: 10.1159/000100107. Epub 2007 Feb 23. Am J Nephrol. 2007. PMID: 17317952

5

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD. Holterhus PM, et al. BMC Genomics. 2007 Oct 18;8:376. doi: 10.1186/1471-2164-8-376. BMC Genomics. 2007. PMID: 17945006 Free PMC article.

6

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: holterhus pm. 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

7

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. Among authors: holterhus pm. 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

8

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L. Riepe FG, et al. Among authors: holterhus pm. Clin Endocrinol (Oxf). 2009 Feb;70(2):252-8. doi: 10.1111/j.1365-2265.2008.03314.x. Clin Endocrinol (Oxf). 2009. PMID: 18547339

9

Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.

Appari M, Werner R, Wünsch L, Cario G, Demeter J, Hiort O, Riepe F, Brooks JD, Holterhus PM. Appari M, et al. Among authors: holterhus pm. J Mol Med (Berl). 2009 Jun;87(6):623-32. doi: 10.1007/s00109-009-0462-3. Epub 2009 Mar 30. J Mol Med (Berl). 2009. PMID: 19330472 Free PMC article.

10

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O. Holterhus PM, et al. BMC Genomics. 2009 Jul 1;10:292. doi: 10.1186/1471-2164-10-292. BMC Genomics. 2009. PMID: 19570224 Free PMC article.

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