Associated Papers
Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.
Olkinuora A et al.
Frontiers in Oncology, 2024
38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Peng L et al.
Cell Death & Disease, 2022
35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp H et al.
Annals of the Rheumatic Diseases, 2020
32312770 (PubMed )
Supplement: annrheumdis-2019-216701supp001.pdf
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mezzavilla M et al.
Rheumatology International, 2018
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
Jeyaratnam J et al.
Jimd Reports, 2016
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
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