Associated Papers
Case Report: Investigation and characterization of a multiple endocrine neoplasia type 1 case and its pedigree.
Liu Y et al.
Frontiers in Endocrinology, 2026
Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.
Kassem PH et al.
Bmc Medical Genomics, 2024
Alternative splicing generates isoform diversity in MEN1.
Ramachandran A et al.
Endocrine Oncology (bristol, England), 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Differences in clinical characteristics, treatment, and outcomes of sporadic and MEN-1-related insulinomas.
Opalińska M et al.
Endokrynologia Polska, 2023
Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.
Quinn LM et al.
Scientific Reports, 2023
Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.
Simonds WF
Frontiers in Endocrinology, 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
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
Caswell RC et al.
Journal of the Endocrine Society, 2019
Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.
Wang L et al.
Artificial Cells, Nanomedicine, and Biotechnology, 2019
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.
Romanet P et al.
Human Mutation, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center.
Daly AF et al.
Endocrine Connections, 2019
UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
Romanet P et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Exome analysis of carotid body tumor.
Snezhkina AV et al.
Bmc Medical Genomics, 2018
The future: genetics advances in MEN1 therapeutic approaches and management strategies.
Agarwal SK
Endocrine-related Cancer, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
Hekim N et al.
Omics : a Journal of Integrative Biology, 2016
Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.
Kong J et al.
Plos One, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.
Chou WC et al.
International Journal of Biological Sciences, 2016
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?
Nozières C et al.
Annales D'endocrinologie, 2014
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).
Thakker RV
Molecular and Cellular Endocrinology, 2014
Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
Shimazu S et al.
Cancer Science, 2011
Evaluation of MEN1 risk in individuals bearing R171Q. R171Q - single nucleotide polymorphism (SNP) or not SNP - that is the question.
Lampichler K et al.
Clinical Endocrinology, 2011
MEN1 in pancreatic endocrine tumors: analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases.
Corbo V et al.
Endocrine-related Cancer, 2010
Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation?
De Carlo E et al.
Clinical Endocrinology, 2008
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.
Lemos MC et al.
Human Mutation, 2008
MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1.
Balogh K et al.
Clinical Endocrinology, 2007
Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers.
Machens A et al.
Clinical Endocrinology, 2007
Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.
Tham E et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening.
Waldmann J et al.
Langenbeck's Archives of Surgery, 2007
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
Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.
Scarpelli D et al.
Journal of Endocrinological Investigation, 2004
Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.
Balogh K et al.
Journal of Human Genetics, 2004
In situ analysis of human menin in normal and neoplastic pancreatic tissues: evidence for differential expression in exocrine and endocrine cells.
Cavallari I et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.
Cebrián A et al.
Journal of Medical Genetics, 2003
Genetic analysis of lithium-associated parathyroid tumors.
Dwight T et al.
European Journal of Endocrinology, 2002
Increased menin expression in sporadic pituitary adenomas.
Wrocklage C et al.
Clinical Endocrinology, 2002
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds WF et al.
Medicine, 2002
A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis.
Arancha C et al.
Journal of Human Genetics, 2002
Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL.
Moore PS et al.
Genes, Chromosomes & Cancer, 2001
10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.
Clerici T et al.
Swiss Medical Weekly, 2001
Predictive genetic screening and clinical findings in multiple endocrine neoplasia type I families.
Kopp I et al.
World Journal of Surgery, 2001
The MEN1 gene and associated diseases: an update.
Tsukada T et al.
Endocrine Pathology, 2001