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  1. Article

    Open Access

    True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome

    Multiple endocrine neoplasia type 1 is a rare tumor syndrome caused by germline mutations of MEN1 gene. Phenotype varies widely, and no definitive correlation with the genotype has been observed. Mutation-negativ...

    Annamária Kövesdi, Miklós Tóth, Henriett Butz, Nikolette Szücs, Beatrix Sármán… in Endocrine (2019)

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    Brief Description of Inheritance Patterns

    Increasing data about the human genome and associations between certain genetic regions with various conditions and diseases positioned human genetics at the top of the most emerging fields in medicine. Many d...

    Annamária Kövesdi, Attila Patócs in Genetics of Endocrine Diseases and Syndromes (2019)

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    Article

    MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism

    Inherited, germline mutations of menin-coding MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), while somatic MEN1 mutations are the sole main driver mutations in sporadic primary hyperparathyroidism (P...

    Vince Kornél Grolmusz, Katalin Borka, Annamária Kövesdi, Kinga Németh… in Virchows Archiv (2017)