Peter M - Search Results

1

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: peter m. 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

2

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: peter m. Clin Chem. 2002 Jun;48(6 Pt 1):818-25. Clin Chem. 2002. PMID: 12028996

3

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.

Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ. Riepe FG, et al. Among authors: peter m. J Clin Endocrinol Metab. 2004 May;89(5):2150-2. doi: 10.1210/jc.2003-031555. J Clin Endocrinol Metab. 2004. PMID: 15126534

4

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N. Riepe FG, et al. Among authors: peter m. J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. doi: 10.1210/jc.2006-1161. Epub 2006 Sep 5. J Clin Endocrinol Metab. 2006. PMID: 16954160

5

Multisteroid analysis in children with terminal aldosterone biosynthesis defects.

Peter M, Partsch CJ, Sippell WG. Peter M, et al. J Clin Endocrinol Metab. 1995 May;80(5):1622-7. doi: 10.1210/jcem.80.5.7745009. J Clin Endocrinol Metab. 1995. PMID: 7745009

6

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. J Clin Endocrinol Metab. 1997 Oct;82(10):3506-8. doi: 10.1210/jcem.82.10.4051. J Clin Endocrinol Metab. 1997. PMID: 9329393

7

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.

Peter M, Fawaz L, Drop SL, Visser HK, Sippell WG. Peter M, et al. J Clin Endocrinol Metab. 1997 Nov;82(11):3525-8. doi: 10.1210/jcem.82.11.4399. J Clin Endocrinol Metab. 1997. PMID: 9360501

8

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. J Clin Endocrinol Metab. 1998 Aug;83(8):2666-74. doi: 10.1210/jcem.83.8.5027. J Clin Endocrinol Metab. 1998. PMID: 9709929

9

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: peter m. J Clin Endocrinol Metab. 1999 May;84(5):1628-32. doi: 10.1210/jcem.84.5.5694. J Clin Endocrinol Metab. 1999. PMID: 10323391

10

Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.

Viemann M, Peter M, López-Siguero JP, Simic-Schleicher G, Sippell WG. Viemann M, et al. Among authors: peter m. J Clin Endocrinol Metab. 2001 May;86(5):2056-9. doi: 10.1210/jcem.86.5.7449. J Clin Endocrinol Metab. 2001. PMID: 11344206

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