Associated Papers
Challenges in molecular diagnosis of multiple endocrine neoplasia.
Romanet P et al.
Frontiers in Endocrinology, 2024
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
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Gordon DM et al.
Endocrine Connections, 2022
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.
Villabona C et al.
American Journal of Medical Genetics. Part A, 2021
Clinical aspects of multiple endocrine neoplasia type 1.
Al-Salameh A et al.
Nature Reviews. Endocrinology, 2021
18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.
Tepede AA et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.
Guerrero-Pérez F et al.
European Journal of Internal Medicine, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
Cuny T et al.
European Journal of Endocrinology, 2013
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.
Crépin M et al.
Electrophoresis, 2003
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