Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.
Chen Y et al.
Journal of Endocrinological Investigation, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.
Lanzaro F et al.
Journal of Clinical Medicine, 2024
Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance.
Carsote M et al.
International Journal of Molecular Sciences, 2024
Traits of Patients With Pituitary Tumors in Multiple Endocrine Neoplasia Type 1 and Comparing Different Mutation Status.
Lin KY et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.
Duan S et al.
Cancer Research Communications, 2023
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.
Lagarde A et al.
Endocrine Connections, 2022
Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1.
Yliaska I et al.
Endocrine, 2022
Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors.
Ling C et al.
European Journal of Endocrinology, 2022
Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience.
Yavropoulou MP et al.
Journal of Clinical Medicine, 2022
Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.
Lang H et al.
Frontiers in Oncology, 2022
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies.
Ye Z et al.
Expert Review of Neurotherapeutics, 2021
A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.
Cho YY et al.
Medicine, 2021
ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1).
Damjanovic SS et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.
Hu WM et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.
Montier L et al.
Epilepsia, 2019
True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome.
Kövesdi A et al.
Endocrine, 2019
[Multiple Endocrine Neoplasia].
Uchino S et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 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
Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.
Isailovic T et al.
Journal of Medical Biochemistry, 2019
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.
Carvalho RA et al.
European Journal of Endocrinology, 2018
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Atypical pituitary adenoma with MEN1 somatic mutation associated with abnormalities of DNA mismatch repair genes; MLH1 germline mutation and MSH6 somatic mutation.
Uraki S et al.
Endocrine Journal, 2017
MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism.
Grolmusz VK et al.
Virchows Archiv : an International Journal of Pathology, 2017
Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.
Borsari S et al.
Endocrine, 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
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
Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.
Chung YJ et al.
Endocrinology and Metabolism (seoul, Korea), 2014
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
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).
Thakker RV
Molecular and Cellular Endocrinology, 2014
Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening.
Nunes VS et al.
Pituitary, 2014
Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.
Pieterman CR et al.
Annals of Surgery, 2012
Multiple endocrine neoplasia type 1 (MEN1).
Thakker RV
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1.
Zha BB et al.
Chinese Medical Journal, 2010
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Vierimaa O et al.
Journal of Endocrinological Investigation, 2009
Unusual clinical and pathological presentation of a neuroendocrine tumor in a patient with multiple endocrine neoplasia type 1.
Sakurai A et al.
Endocrine Journal, 2009
The role of menin in parathyroid tumorigenesis.
Davenport C et al.
Advances in Experimental Medicine and Biology, 2009
Identification of multiple endocrine neoplasia type 1 in patients with apparent sporadic primary hyperparathyroidism.
Yip L et al.
Surgery, 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
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
A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.
Cardinal JW et al.
Journal of Medical Genetics, 2005
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Warner J et al.
Journal of Medical Genetics, 2004
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.
Concolino P et al.
Cancer Genetics, 0