Lista de obras - Anna Mensa-Vilaro - Dominio Público Uruguay

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

artículo científico publicado en 2015

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

artículo científico publicado en 2016

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

artículo científico publicado en 2015

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

artículo científico publicado en 2016

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

artículo científico

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.

artículo científico publicado en 2015

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

artículo científico publicado en 2017

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.

artículo científico publicado en 2015

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.

artículo científico publicado en 2015

Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra

artículo científico publicado en 2017

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children

artículo científico publicado en 2016

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience ⬇️

artículo científico publicado en 2017

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome ⬇️

artículo científico publicado en 2017

NOD2 mosaicism in Blau syndrome

artículo científico publicado en 2015

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

artículo científico publicado en 2017

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

artículo científico publicado en 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

artículo científico publicado en 2015

Somatic NOD2 mosaicism in Blau syndrome

artículo científico publicado en 2015

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

Lista de obras de Anna Mensa-Vilaro

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.

Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children

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 ⬇️

NOD2 mosaicism in Blau syndrome

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Somatic NOD2 mosaicism in Blau syndrome

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases