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Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á, Grassi ES, Gellén B, Kleinau G, Biebermann H, Ruzsa B, Gelmini G, Rideg O, Miseta A, Kovács GL, Patócs A, Felszeghy E, Nagy EV, Mezősi E, Persani L. Lábadi Á, et al. Among authors: patocs a. J Clin Endocrinol Metab. 2015 Jul;100(7):E1039-45. doi: 10.1210/jc.2014-4511. Epub 2015 May 15. J Clin Endocrinol Metab. 2015. PMID: 25978107
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. J Clin Endocrinol Metab. 2015. PMID: 26186299 Free PMC article.
True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome.
Kövesdi A, Tóth M, Butz H, Szücs N, Sármán B, Pusztai P, Tőke J, Reismann P, Fáklya M, Tóth G, Somogyi A, Borka K, Erdei A, Nagy EV, Deák V, Valkusz Z, Igaz P, Patócs A, Grolmusz VK. Kövesdi A, et al. Among authors: patocs a. Endocrine. 2019 Aug;65(2):451-459. doi: 10.1007/s12020-019-01932-x. Epub 2019 May 1. Endocrine. 2019. PMID: 31044390 Free PMC article.
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. 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
246 results