Associated Papers
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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.
Touitou I
Genes & Diseases, 2022
Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
Li L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME et al.
Journal of Medical Genetics, 2018
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
Li M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.
Touitou I et al.
Journal of Dermatological Science, 2014
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Li C et al.
Journal of Dermatological Science, 2014
Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Dai J et al.
Journal of Dermatological Science, 2013
The expanding spectrum of rare monogenic autoinflammatory diseases.
Touitou I et al.
Orphanet Journal of Rare Diseases, 2013
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ et al.
Nature Genetics, 2012
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
Bodar EJ et al.
Annals of the Rheumatic Diseases, 2011
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.
van der Hilst JC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A et al.
Neurology, 2004
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L et al.
European Journal of Human Genetics : Ejhg, 2001
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Qian W et al.
Indian Journal of Dermatology, 0