Associated Papers
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
Kılıç Könte E et al.
The Turkish Journal of Pediatrics, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2024
Origin of breath isoprene in humans is revealed via multi-omic investigations.
Sukul P et al.
Communications Biology, 2023
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.
Di Ciaula A et al.
European Journal of Internal Medicine, 2023
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.
Yıldız F et al.
Archives of Rheumatology, 2023
Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China.
Mei Q et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report.
Xu HJ et al.
World Journal of Clinical Cases, 2022
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation.
Vuran G et al.
European Journal of Rheumatology, 2022
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.
Guzel F et al.
Frontiers in Immunology, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.
Turk S et al.
Cardiology in the Young, 2020
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
Wang DS et al.
Bioscience Trends, 2018
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mezzavilla M et al.
Rheumatology International, 2018
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Autoinflammatory Diseases with Periodic Fevers.
Sag E et al.
Current Rheumatology Reports, 2017
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama M et al.
Biochemistry and Biophysics Reports, 2017
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Hernández-Rodríguez J et al.
Autoimmunity Reviews, 2016
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.
De Pieri C et al.
Pediatric Rheumatology Online Journal, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
"Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name?
Celsi F et al.
Rheumatology International, 2014
Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Omoyinmi E et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Stabile A et al.
Rheumatology International, 2013
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y et al.
Annals of the Rheumatic Diseases, 2012
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Pallares-Ruiz N et al.
Plos One, 2010
A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome.
Trübenbach J et al.
Rheumatology International, 2010
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A et al.
European Journal of Human Genetics : Ejhg, 2005
[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease].
Gava A et al.
Reumatismo, 0
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J et al.
Autoimmunity, 0