{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(10)"],"submitter":["Pardi E"],"pubmed_abstract":["The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations. A total of 69 index cases followed at the Endocrinology Unit in Pisa over a period of 19 years, including 54 MEN1 and 15 FIHP kindreds were enrolle"],"journal":["PloS one"],"pagination":["e0186485"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5643132"],"repository":["biostudies-literature"],"pubmed_title":["Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features."],"pmcid":["PMC5643132"],"pubmed_authors":["Mariotti S","Pardi E","Pigliaru F","Borsari S","Materazzi G","Cetani F","Satta C","Saponaro F","Urbani C","Bogazzi F","Miccoli P","Grantaliano L","Pani F","Marcocci C"],"additional_accession":[]},"is_claimable":false,"name":"Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.","description":"The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations. A total of 69 index cases followed at the Endocrinology Unit in Pisa over a period of 19 years, including 54 MEN1 and 15 FIHP kindreds were enrolle","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2026-04-30T18:19:26.323Z","creation":"2019-03-27T02:59:04Z"},"accession":"S-EPMC5643132","cross_references":{"pubmed":["29036195"],"doi":["10.1371/journal.pone.0186485"]}}