Associated Papers
Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.
Martinerie L et al.
Annales D'endocrinologie, 2024
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Andreotti V et al.
Genes, 2024
Alternative splicing generates isoform diversity in MEN1.
Ramachandran A et al.
Endocrine Oncology (bristol, England), 2024
39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.
Băicoianu-Nițescu LC et al.
Diagnostics (basel, Switzerland), 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
A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.
Bao G et al.
Frontiers in Oncology, 2022
Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.
Hu Y et al.
Frontiers in Endocrinology, 2021
Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.
Isailovic T et al.
Journal of Medical Biochemistry, 2019
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Marini F et al.
Endocrine, 2018
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.
Kaiwar C et al.
Hereditary Cancer in Clinical Practice, 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
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.
Remde H et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
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