Péter Gergics

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Transcriptional Regulation, Pituitary Gland, Genetics +11

Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

Attila Patócs, István Likó, Ibolya Varga et al. · The Journal of Steroid Biochemistry and Molecular Biology · 2005 · 36 citations

Cyp17 Gene, Cellular Enzymology, Biochemistry +9

Overrepresentation of the N363S Variant of the Glucocorticoid Receptor Gene in Patients with Bilateral Adrenal Incidentalomas

Judit Majnik, Attila Patócs, Katalin Balogh et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 31 citations · Full text

The phenotypic spectrum associated with OTX2 mutations in humans

Louise Gregory, Péter Gergics, Marilena Nakaguma et al. · European Journal of Endocrinology · 2021 · 31 citations · Full text

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium‐sensing receptor gene

Judit Tõke, Gábor Czirják, Attila Patócs et al. · Clinical Endocrinology · 2007 · 30 citations