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OPOCHER , Giuseppe

Last name: OPOCHER

First name: Giuseppe

2018 (v1)

Publication

Metadata-only

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

Marini, Francesca Giusti, Francesca Fossi, Caterina

Purpose: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype–phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical...

Uploaded on: April 14, 2023
2017 (v1)

Publication

Metadata-only

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

GIUSTI, FRANCESCA Cianferotti, Luisella Boaretto, Francesca

Objective: The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Methods: Clinical, familial and genetic data of patients with multiple endocrine...

Uploaded on: March 27, 2023