about
Somatic NOD2 mosaicism in Blau syndromeClinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.Somatic NLRP3 mosaicism in Muckle-Wells syndrome.Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome.Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra.Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.NOD2 mosaicism in Blau syndrome.Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases
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P50
description
researcher ORCID ID = 0000-0001-7541-9672
@en
wetenschapper
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name
Anna Mensa-Vilaro
@ast
Anna Mensa-Vilaro
@en
Anna Mensa-Vilaro
@es
Anna Mensa-Vilaro
@nl
type
label
Anna Mensa-Vilaro
@ast
Anna Mensa-Vilaro
@en
Anna Mensa-Vilaro
@es
Anna Mensa-Vilaro
@nl
prefLabel
Anna Mensa-Vilaro
@ast
Anna Mensa-Vilaro
@en
Anna Mensa-Vilaro
@es
Anna Mensa-Vilaro
@nl
P106
P21
P31
P496
0000-0001-7541-9672