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No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
Welzel M, Schwarz HP, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J, Krone N, Riepe FG, Holterhus PM. Welzel M, et al. Among authors: bramswig jh. J Clin Endocrinol Metab. 2010 May;95(5):2443-50. doi: 10.1210/jc.2009-1338. Epub 2010 Mar 16. J Clin Endocrinol Metab. 2010. PMID: 20233785
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG. Barbaro M, et al. Among authors: bramswig j. Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456342 Free article.
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Riedl S, Röhl FW, Bonfig W, Brämswig J, Richter-Unruh A, Fricke-Otto S, Bettendorf M, Riepe F, Kriegshäuser G, Schönau E, Even G, Hauffa B, Dörr HG, Holl RW, Mohnike K; AQUAPE CAH Study Group. Riedl S, et al. Among authors: bramswig j. Endocr Connect. 2019 Feb 1;8(2):86-94. doi: 10.1530/EC-18-0281. Endocr Connect. 2019. PMID: 30620712 Free PMC article.
Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement.
Rohayem J, Bäumer LM, Zitzmann M, Fricke-Otto S, Mohnike K, Gohlke B, Reschke F, Jourdan C, Müller HL, Dunstheimer D, Weigel J, Jorch N, Müller-Rossberg E, Lankes E, Gätjen I, Richter-Unruh A, Hauffa BP, Kliesch S, Krumbholz A, Brämswig J. Rohayem J, et al. Among authors: bramswig j. Eur J Endocrinol. 2021 Apr;184(4):487-501. doi: 10.1530/EJE-20-1154. Eur J Endocrinol. 2021. PMID: 33524003
Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.
Bonfig W, Roehl F, Riedl S, Brämswig J, Richter-Unruh A, Fricke-Otto S, Hübner A, Bettendorf M, Schönau E, Dörr H, Holl RW, Mohnike K. Bonfig W, et al. Among authors: bramswig j. Horm Res Paediatr. 2018;89(1):7-12. doi: 10.1159/000481775. Epub 2017 Oct 26. Horm Res Paediatr. 2018. PMID: 29073619
92 results