Roscher AA - Search Results

1

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP. Krone N, et al. Among authors: roscher aa. J Clin Endocrinol Metab. 2000 Mar;85(3):1059-65. doi: 10.1210/jcem.85.3.6441. J Clin Endocrinol Metab. 2000. PMID: 10720040 Clinical Trial.

2

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.

Krone N, Roscher AA, Schwarz HP, Braun A. Krone N, et al. Among authors: roscher aa. Clin Chem. 1998 Oct;44(10):2075-82. Clin Chem. 1998. PMID: 9761237 Clinical Trial.

3

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.

Krone N, Braun A, Roscher AA, Schwarz HP. Krone N, et al. Among authors: roscher aa. Hum Mutat. 1999;14(1):90-1. doi: 10.1002/(sici)1098-1004(1999)14:1<90::aid-humu20>3.0.co;2-h. Hum Mutat. 1999. PMID: 10447270

4

Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood.

Krone N, Wachter I, Stefanidou M, Roscher AA, Schwarz HP. Krone N, et al. Among authors: roscher aa. Clin Endocrinol (Oxf). 2001 Oct;55(4):523-9. doi: 10.1046/j.1365-2265.2001.01359.x. Clin Endocrinol (Oxf). 2001. PMID: 11678836

5

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

6

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA. Maier EM, et al. Among authors: roscher aa. Hum Mutat. 2005 May;25(5):443-52. doi: 10.1002/humu.20163. Hum Mutat. 2005. PMID: 15832312

7

A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene.

Braun A, Maier E, Kammerer S, Müller B, Roscher AA. Braun A, et al. Among authors: roscher aa. Hum Genet. 1996 May;97(5):688-9. doi: 10.1007/BF02281884. Hum Genet. 1996. PMID: 8655154

8

Polymorphisms in the gene for the human B2-bradykinin receptor. New tools in assessing a genetic risk for bradykinin-associated diseases.

Braun A, Kammerer S, Maier E, Böhme E, Roscher AA. Braun A, et al. Among authors: roscher aa. Immunopharmacology. 1996 Jun;33(1-3):32-5. doi: 10.1016/0162-3109(96)00079-3. Immunopharmacology. 1996. PMID: 8856111

9

Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis.

Braun A, Meyer P, Cleve H, Roscher AA. Braun A, et al. Among authors: roscher aa. Eur J Clin Chem Clin Biochem. 1996 Sep;34(9):761-4. doi: 10.1515/cclm.1996.34.9.761. Eur J Clin Chem Clin Biochem. 1996. PMID: 8891530

10

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Holzinger A, Maier E, Stöckler-Ipsiroglu S, Braun A, Roscher AA. Holzinger A, et al. Among authors: roscher aa. Clin Genet. 1998 Jun;53(6):482-7. doi: 10.1111/j.1399-0004.1998.tb02600.x. Clin Genet. 1998. PMID: 9712540

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