Associated Papers
[Primary hyperparathyroidism in children].
Benina AR et al.
Problemy Endokrinologii, 2023
Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.
Dreijerink KMA et al.
Epigenetics & Chromatin, 2022
35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties
A Novel Isogenic Human Cell-Based System for MEN1 Syndrome Generated by CRISPR/Cas9 Genome Editing.
Klementieva N et al.
International Journal of Molecular Sciences, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.
Corsello A et al.
Molecular Biology Reports, 2020
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.
Carvalho RA et al.
European Journal of Endocrinology, 2018
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