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
Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis.
He Y et al.
Frontiers in Medicine, 2026
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
Dysregulation of innate immunity: hereditary periodic fever syndromes.
Bodar EJ et al.
British Journal of Haematology, 2009
The tumour necrosis factor receptor-associated periodic syndrome: current concepts.
Stojanov S et al.
Expert Reviews in Molecular Medicine, 2005
The genetic background of tumour necrosis factor receptor-associated periodic syndrome and other systemic autoinflammatory disorders.
Stjernberg-Salmela S et al.
Scandinavian Journal of Rheumatology, 2004
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
Dodé C et al.
Arthritis and Rheumatism, 2002
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