Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.I692del1
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MEFV

NM_000243.3:p.I692del1

Associated Papers

Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).

Jaber N et al.

European Journal of Internal Medicine, 2026

Cachexia as an unusual presentation of familial Mediterranean fever: A case report.

Sira AM et al.

World Journal of Clinical Cases, 2026

The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.

Kızılkaya B et al.

Journal of Clinical Medicine, 2026

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

Dumont A et al.

Joint Bone Spine, 2025

Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

Renal outcomes and survival in amyloidosis associated with familial Mediterranean fever: A longitudinal study.

Ozeri DJ et al.

Seminars in Arthritis and Rheumatism, 2025

Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.

Sheyyab A et al.

Journal of Nephrology, 2025

Familial Mediterranean Fever; Recent Advances, Future Prospectives.

Romano M et al.

Diagnostics (basel, Switzerland), 2025

A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.

Batu ED et al.

Rheumatology (oxford, England), 2025

A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".

Abi Chakra N et al.

The Application of Clinical Genetics, 2025

Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.

Habibi A et al.

Iranian Journal of Child Neurology, 2025

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease.

Özçelik E et al.

Journal of Paediatrics and Child Health, 2024

E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

Orouk Awaad E et al.

European Journal of Pediatrics, 2024

Analysis of the Effects of SAA1 Gene Polymorphisms on Renal Involvement in a Familial Mediterranean Fever Jordanian Population.

Sheyyab A et al.

The Eurasian Journal of Medicine, 2024

Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.

Ahmed NE et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.

Muhsinoglu O et al.

Ophthalmic Genetics, 2024

Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.

Sokkar MF et al.

Clinical Rheumatology, 2024

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.

Reygaerts T et al.

Rheumatology (oxford, England), 2024

Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.

Souali M et al.

Qatar Medical Journal, 2024

Genewise detection of variants in MEFV gene using nanopore sequencing.

Ghukasyan L et al.

Frontiers in Genetics, 2024

Case report of a patient with VEXAS syndrome.

Tsourveloudis I et al.

Medicine, 2023

Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.

Tuncer Kuru F et al.

Modern Rheumatology, 2023

Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.

Zekry ME et al.

Current Issues in Molecular Biology, 2023

Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.

Salehzadeh F et al.

Iranian Journal of Medical Sciences, 2023

Familial Mediterranean fever in Armenian children with inflammatory bowel disease.

Amaryan G et al.

Frontiers in Pediatrics, 2023

Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.

Omran A et al.

Children (basel, Switzerland), 2022

Late-onset familial mediterranean fever: single-center experience and literature review.

Aydin O et al.

Internal and Emergency Medicine, 2022

Conventional and novel therapeutic options in children with familial Mediterranean fever: A rare autoinflammatory disease.

Poddighe D et al.

British Journal of Clinical Pharmacology, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene.

Sahin S et al.

Life (basel, Switzerland), 2022

Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.

Sgouropoulou V et al.

Rheumatology International, 2022

Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?

Delplanque M et al.

Scandinavian Journal of Rheumatology, 2022

Assessment of vascular damage in children and young adults with Familial Mediterranean Fever.

Vampertzi O et al.

Rheumatology International, 2022

The clinical effect of gene mutations in familial Mediterranean fever disease.

Güngörer V et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Familial Mediterranean fever in the pediatric population.

Llobet-Agulló P et al.

Allergologia Et Immunopathologia, 2022

Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.

Aoki M et al.

Frontiers in Immunology, 2022

Vasculitis and familial Mediterranean fever: Description of 22 French adults from the juvenile inflammatory rheumatism cohort.

Abbara S et al.

Frontiers in Medicine, 2022

Is the performance of the international severity scoring system for familial mediterranean fever in children better than other scoring systems?

Ozcan G et al.

International Journal of Clinical Practice, 2021

Prediction of More Severe MEFV Gene Mutations in Childhood.

Güneş-Yılmaz S et al.

Turkish Archives of Pediatrics, 2021

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

Arici ZS et al.

Journal of Clinical Medicine, 2021

Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.

Tanatar A et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2021

Similarities between pediatric FMF patients with sacroiliitis and pediatric juvenile spondyloarthropathy patients with sacroiliitis: a preliminary study.

Özdel S et al.

Acta Clinica Belgica, 2021

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis.

Varol Fİ et al.

Journal of Tropical Pediatrics, 2021

Infertility Causes and Pregnancy Outcome in Patients With Familial Mediterranean Fever and Controls.

Sotskiy PO et al.

The Journal of Rheumatology, 2021

The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Yildiz M et al.

European Journal of Pediatrics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."