Sippell WG - Search Results

1

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Geley S, Kapelari K, Jöhrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R. Geley S, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 1996 Aug;81(8):2896-901. doi: 10.1210/jcem.81.8.8768848. J Clin Endocrinol Metab. 1996. PMID: 8768848

2

Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.

Geley S, Jöhrer K, Peter M, Denner K, Bernhardt R, Sippell WG, Kofler R. Geley S, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 1995 Feb;80(2):424-9. doi: 10.1210/jcem.80.2.7852500. J Clin Endocrinol Metab. 1995. PMID: 7852500

3

Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficiency of a family with the R448H mutation in the CYP11B1 gene.

Peter M, Sippell WG. Peter M, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 1997 Oct;82(10):3506-8. doi: 10.1210/jcem.82.10.4051. J Clin Endocrinol Metab. 1997. PMID: 9329393

4

Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.

Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch CJ, Sippell WG. Krone N, et al. Among authors: sippell wg. Clin Chem. 2002 Jun;48(6 Pt 1):818-25. Clin Chem. 2002. PMID: 12028996

5

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.

Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Krone N, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8. J Clin Endocrinol Metab. 2005. PMID: 15755848

6

Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

Peter M, Viemann M, Partsch CJ, Sippell WG. Peter M, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 1998 Aug;83(8):2666-74. doi: 10.1210/jcem.83.8.5027. J Clin Endocrinol Metab. 1998. PMID: 9709929

7

Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.

Korsch E, Peter M, Hiort O, Sippell WG, Ure BM, Hauffa BP, Bergmann M. Korsch E, et al. Among authors: sippell wg. J Clin Endocrinol Metab. 1999 May;84(5):1628-32. doi: 10.1210/jcem.84.5.5694. J Clin Endocrinol Metab. 1999. PMID: 10323391

8

Impairment of 11 beta-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'.

Reincke M, Peter M, Sippell WG, Allolio B. Reincke M, et al. Among authors: sippell wg. Eur J Endocrinol. 1997 Feb;136(2):196-200. doi: 10.1530/eje.0.1360196. Eur J Endocrinol. 1997. PMID: 9116915

9

Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.

Peter M, Dubuis JM, Sippell WG. Peter M, et al. Among authors: sippell wg. Horm Res. 1999;51(5):211-22. doi: 10.1159/000023374. Horm Res. 1999. PMID: 10559665 Review.

10

Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.

Brand M, Schoof E, Partsch C-J, Peter M, Hoepffner W, Dörr HG, Sippell WG. Brand M, et al. Among authors: sippell wg. Exp Clin Endocrinol Diabetes. 2000;108(6):430-5. doi: 10.1055/s-2000-8139. Exp Clin Endocrinol Diabetes. 2000. PMID: 11026757

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