Lista de obras -

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

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

artículo científico publicado en 2013

Accurate expression profiling of very small cell populations

artículo científico publicado en 2010

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

artículo científico publicado en 2015

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

artículo científico publicado en 2008

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

artículo científico publicado en 2009

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

artículo científico publicado en 2019

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

CIAS1 and NOD2 Genes in Adult-onset Still’s Disease

article

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

artículo científico publicado en 2014

Characterization of a (2R,3R)-2,3-butanediol dehydrogenase as the Saccharomyces cerevisiae YAL060W gene product. Disruption and induction of the gene.

artículo científico publicado en 2000

Characterization of the Saccharomyces cerevisiae YMR318C (ADH6) gene product as a broad specificity NADPH-dependent alcohol dehydrogenase: relevance in aldehyde reduction

artículo científico publicado en 2002

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

artículo científico publicado en 2015

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

artículo científico publicado en 2007

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

Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase

artículo científico publicado en 2016

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

artículo científico publicado en 2018

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

artículo científico publicado en 2013

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

artículo científico publicado en 2019

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR

artículo científico publicado en 2021

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

artículo científico publicado en 2008

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

artículo científico publicado en 2018

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients.

artículo científico publicado en 2015

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

artículo científico publicado en 2013

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

P02-002 - IL36RN mutations in patients with DITRA.

artículo científico publicado en 2013

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.

artículo científico publicado en 2013

PW02-024-B - First report of AA amyloidosis in Blau syndrome.

artículo científico publicado en 2013

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

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

Role of Saccharomyces cerevisiae oxidoreductases Bdh1p and Ara1p in the metabolism of acetoin and 2,3-butanediol

artículo científico publicado en 2010

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

artículo científico publicado en 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

artículo científico publicado en 2013

Somatic NOD2 mosaicism in Blau syndrome

artículo científico publicado en 2015

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients.

artículo científico publicado en 2014

The yeast ζ-crystallin/NADPH:quinone oxidoreductase (Zta1p) is under nutritional control by the target of rapamycin pathway and is involved in the regulation of argininosuccinate lyase mRNA half-life.

artículo científico publicado en 2015

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

artículo científico publicado en 2007

[Analysis of cytogenetic abnormalities in squamous cell carcinoma by array comparative genomic hybridization]

artículo científico publicado en 2008

Lista de obras de

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

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

Accurate expression profiling of very small cell populations

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

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

CIAS1 and NOD2 Genes in Adult-onset Still’s Disease

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

Characterization of a (2R,3R)-2,3-butanediol dehydrogenase as the Saccharomyces cerevisiae YAL060W gene product. Disruption and induction of the gene.

Characterization of the Saccharomyces cerevisiae YMR318C (ADH6) gene product as a broad specificity NADPH-dependent alcohol dehydrogenase: relevance in aldehyde reduction

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

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

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.

Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients.

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

NOD2 mosaicism in Blau syndrome.

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

P02-002 - IL36RN mutations in patients with DITRA.

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.

PW02-024-B - First report of AA amyloidosis in Blau syndrome.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

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

Role of Saccharomyces cerevisiae oxidoreductases Bdh1p and Ara1p in the metabolism of acetoin and 2,3-butanediol

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Somatic NOD2 mosaicism in Blau syndrome

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients.

The yeast ζ-crystallin/NADPH:quinone oxidoreductase (Zta1p) is under nutritional control by the target of rapamycin pathway and is involved in the regulation of argininosuccinate lyase mRNA half-life.

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

[Analysis of cytogenetic abnormalities in squamous cell carcinoma by array comparative genomic hybridization]