Associated Papers
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
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S5
True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome.
Kövesdi A et al.
Endocrine, 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
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
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
Select a paper to view details