Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
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
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 Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B et al.
Inflammatory Bowel Diseases, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y et al.
Clinical Chemistry, 2020
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
Deshayes S et al.
The Journal of Rheumatology, 2018
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
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
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