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Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K. Patocs A, et al. Among authors: racz k. J Steroid Biochem Mol Biol. 2005 Nov;97(3):257-65. doi: 10.1016/j.jsbmb.2005.06.035. Epub 2005 Sep 19. J Steroid Biochem Mol Biol. 2005. PMID: 16176874
[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].
Majnik J, Patócs A, Balogh K, Luczay A, Török D, Szabó V, Borgulya G, Gergics P, Szappanos A, Bertalan R, Belema B, Toke J, Sereg M, Nagy ZZ, Sólyom J, Tóth M, Gláz E, Rácz K, Németh J, Fekete G, Tulassay Z. Majnik J, et al. Among authors: racz k. Orv Hetil. 2006 Nov 5;147(44):2107-15. Orv Hetil. 2006. PMID: 17209299 Review. Hungarian.
The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome.
Szappanos A, Patócs A, Gergics P, Bertalan R, Kerti A, Acs B, Feldmann K, Rácz K, Tóth M. Szappanos A, et al. Among authors: racz k. J Steroid Biochem Mol Biol. 2011 Jan;123(1-2):79-84. doi: 10.1016/j.jsbmb.2010.11.009. Epub 2010 Nov 24. J Steroid Biochem Mol Biol. 2011. PMID: 21111044
340 results