Vierhapper H - 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: vierhapper h. 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

Consanguinity in two seemingly unrelated patients with congenital adrenal hyperplasia.

Vierhapper H, Vierhapper MS, Kapelari K, Baumgartner-Parzer S, Kofler R. Vierhapper H, et al. Among authors: vierhapper ms. Lancet. 1996 Mar 9;347(9002):699. doi: 10.1016/s0140-6736(96)91257-x. Lancet. 1996. PMID: 8596422 No abstract available.

3

Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.

Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: vierhapper h. J Clin Endocrinol Metab. 2005 Feb;90(2):775-8. doi: 10.1210/jc.2004-1728. Epub 2004 Nov 30. J Clin Endocrinol Metab. 2005. PMID: 15572419

4

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

Baumgartner-Parzer SM, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: vierhapper h. J Clin Endocrinol Metab. 2001 Oct;86(10):4771-5. doi: 10.1210/jcem.86.10.7898. J Clin Endocrinol Metab. 2001. PMID: 11600539

5

Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.

Baumgartner-Parzer SM, Pauschenwein S, Waldhäusl W, Pölzler K, Nowotny P, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: vierhapper h. Clin Endocrinol (Oxf). 2002 Jun;56(6):811-6. doi: 10.1046/j.1365-2265.2002.01299.x. Clin Endocrinol (Oxf). 2002. PMID: 12072053

6

A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.

Baumgartner-Parzer SM, Nowotny P, Waldhäusl W, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: vierhapper h. J Clin Endocrinol Metab. 2003 Jun;88(6):2794-6. doi: 10.1210/jc.2002-021589. J Clin Endocrinol Metab. 2003. PMID: 12788889

7

Salt wasting in simple virilizing congenital adrenal hyperplasia.

Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H. Frisch H, et al. Among authors: vierhapper h. J Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1649-55. doi: 10.1515/jpem.2001.14.9.1649. J Pediatr Endocrinol Metab. 2001. PMID: 11795656

8

Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.

Baumgartner-Parzer SM, Fischer G, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: vierhapper h. J Clin Endocrinol Metab. 2007 Mar;92(3):1164-7. doi: 10.1210/jc.2006-2189. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164306

9

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM. Kleinle S, et al. Among authors: vierhapper h. J Clin Endocrinol Metab. 2009 Oct;94(10):3954-8. doi: 10.1210/jc.2009-0487. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773403

10

Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.

Raber W, Fischer G, Vierhapper H. Raber W, et al. Among authors: vierhapper h. Wien Klin Wochenschr. 1998 Jan 16;110(1):23-6. Wien Klin Wochenschr. 1998. PMID: 9499475

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