Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
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
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.
Moussa T et al.
Journal of Clinical Immunology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.
Chandrakasan S et al.
Journal of Clinical Immunology, 2014
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome.
Nedjai B et al.
Arthritis and Rheumatism, 2008
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Familial autoinflammatory diseases: genetics, pathogenesis and treatment.
Stojanov S et al.
Current Opinion in Rheumatology, 2005
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
Hoffmann F et al.
European Journal of Human Genetics : Ejhg, 2005
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
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
Stojanov S et al.
Arthritis and Rheumatism, 2004
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Touitou I et al.
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.
Arkwright PD et al.
Clinical and Experimental Immunology, 2002