Kofler R - 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: kofler r. 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

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.

Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC. Helmberg A, et al. Among authors: kofler r. Mol Endocrinol. 1992 Aug;6(8):1318-22. doi: 10.1210/mend.6.8.1406709. Mol Endocrinol. 1992. PMID: 1406709

3

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

Helmberg A, Ausserer B, Kofler R. Helmberg A, et al. Among authors: kofler r. J Clin Endocrinol Metab. 1992 Nov;75(5):1278-81. doi: 10.1210/jcem.75.5.1430088. J Clin Endocrinol Metab. 1992. PMID: 1430088

4

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: kofler r. J Clin Endocrinol Metab. 1995 Feb;80(2):424-9. doi: 10.1210/jcem.80.2.7852500. J Clin Endocrinol Metab. 1995. PMID: 7852500

5

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

Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC. Joehrer K, et al. Among authors: kofler r. Hum Mol Genet. 1997 Oct;6(11):1829-34. doi: 10.1093/hmg/6.11.1829. Hum Mol Genet. 1997. PMID: 9302260

6

A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H. Kapelari K, et al. Among authors: kofler r. Hum Mutat. 1999;13(6):505. doi: 10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0. Hum Mutat. 1999. PMID: 10408786

7

Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes.

Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, Albert E, Kofler R. Helmberg A, et al. Among authors: kofler r. DNA Cell Biol. 1992 Jun;11(5):359-68. doi: 10.1089/dna.1992.11.359. DNA Cell Biol. 1992. PMID: 1605859

8

Mouse variable-region gene families: complexity, polymorphism and use in non-autoimmune responses.

Kofler R, Geley S, Kofler H, Helmberg A. Kofler R, et al. Among authors: kofler h. Immunol Rev. 1992 Aug;128:5-21. doi: 10.1111/j.1600-065x.1992.tb00830.x. Immunol Rev. 1992. PMID: 1427923 Review. No abstract available.

9

Resistance to glucocorticoid-induced apoptosis in human T-cell acute lymphoblastic leukemia CEM-C1 cells is due to insufficient glucocorticoid receptor expression.

Geley S, Hartmann BL, Hala M, Strasser-Wozak EM, Kapelari K, Kofler R. Geley S, et al. Among authors: kofler r. Cancer Res. 1996 Nov 1;56(21):5033-8. Cancer Res. 1996. PMID: 8895760

10

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: kofler r. Lancet. 1996 Mar 9;347(9002):699. doi: 10.1016/s0140-6736(96)91257-x. Lancet. 1996. PMID: 8596422 No abstract available.

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