Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12857/116013
Title: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database
Authors: Marini, Francesca
Giusti, Francesca
Fossi, Caterina
Cioppi, Federica
Cianferotti, Luisella
Masi, Laura
Boaretto, Francesca 
Zovato, Stefania 
Cetani, Filomena
Colao, Annamaria
Davì, Maria Vittoria 
Faggiano, Antongiulio
Fanciulli, Giuseppe
Ferolla, Piero
Ferone, Diego
Loli, Paola
Mantero, Franco 
Marcocci, Claudio
Opocher, Giuseppe
Beck-Peccoz, Paolo
Persani, Luca
Scillitani, Alfredo
Guizzardi, Fabiana
Spada, Anna
Tomassetti, Paola
Tonelli, Francesco
Brandi, Maria Luisa
Keywords: Genetic test;Genotype–phenotype correlation;MEN1 inactivating mutations;Multiple endocrine neoplasia type 1
Keywords Plus: CLINICAL-FEATURES;GENE-MUTATIONS;PHENOTYPE;FAMILIES;INVOLVEMENT;PHENOCOPY;DIAGNOSIS;GENOTYPE
Mesh headings: Germ-Line Mutation;Multiple Endocrine Neoplasia Type 1;Proto-Oncogene Proteins
Secondary Mesh headings: Adolescent;Adult;Aged;Child;Child, Preschool;Databases, Factual;Female;Genotype;Humans;Italy;Male;Middle Aged;Phenotype;Young Adult
Issue Date: 2018
Publisher: SPRINGER
Journal: Endocrine 
Abstract: 
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 presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date.
URI: http://hdl.handle.net/20.500.12857/116013
ISSN: 1355008X
DOI: 10.1007/s12020-018-1566-8
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