Associated Papers
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Govindaraj GM et al.
Plos One, 2020
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
26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Santos JA et al.
Gene, 2014
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Lainka E et al.
Rheumatology International, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
Korppi M et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.
Hospach T et al.
Arthritis and Rheumatism, 2005
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