Associated Papers
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
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
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
Pardi E et al.
Plos One, 2017
Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.
Pontikides N et al.
Journal of Bone and Mineral Metabolism, 2014
Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.
Lemos MC et al.
The Journal of Endocrinology, 2009
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.
Howell VM et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
Cetani F et al.
Clinical Endocrinology, 2006
Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.
Jap TS et al.
Clinical Endocrinology, 2005
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Warner J et al.
Journal of Medical Genetics, 2004
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