Associated Papers
Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
Sado T et al.
Den Open, 2026
The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.
Du Y et al.
Communications Medicine, 2026
Colitis in a patient with familial Mediterranean fever: Is it Crohn's disease or ulcerative colitis?
Hoshi A et al.
Den Open, 2025
Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort study.
Nakase H et al.
Ebiomedicine, 2024
Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.
Yamada S et al.
Inflammatory Bowel Diseases, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 2022
Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV.
Miyashita K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.
Schmidt J et al.
Plos One, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.
Zhong L et al.
Pediatric Rheumatology Online Journal, 2020
MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified.
Saito D et al.
Digestion, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
Evaluation of the effects of miRNAs in familial Mediterranean fever.
Hortu HO et al.
Clinical Rheumatology, 2019
Familial Mediterranean Fever in Chinese Children: A Case Series.
Li J et al.
Frontiers in Pediatrics, 2019
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 2018
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
Moradian MM et al.
Molecular Genetics & Genomic Medicine, 2017
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama M et al.
Biochemistry and Biophysics Reports, 2017
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.
Tone Y et al.
Modern Rheumatology, 2012
Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models.
Erdem GC et al.
Genetics and Molecular Biology, 0