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Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M. Tõke J, et al. Among authors: gergics p. Clin Endocrinol (Oxf). 2007 Sep;67(3):385-92. doi: 10.1111/j.1365-2265.2007.02896.x. Epub 2007 Jun 7. Clin Endocrinol (Oxf). 2007. PMID: 17555508
Parathyroid hormone-dependent hypercalcemia.
Toke J, Patócs A, Balogh K, Gergics P, Stenczer B, Rácz K, Tóth M. Toke J, et al. Among authors: gergics p. Wien Klin Wochenschr. 2009;121(7-8):236-45. doi: 10.1007/s00508-009-1149-z. Wien Klin Wochenschr. 2009. PMID: 19562279 Review.
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: gergics p. 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
34 results