List of works - Eva Gonzalez-Roca

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

scientific article

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

scientific article published on 25 February 2013

Accurate expression profiling of very small cell populations

scientific article published on 28 December 2010

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

scientific article published on 30 June 2015

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

scientific article

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

scientific article published on 26 February 2009

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

scientific article published on 14 March 2019

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

scientific article published on 25 November 2015

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

scientific article

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

article

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

scientific article published on 01 April 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 28 September 2015

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

scientific article published on 4 January 2016

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

scientific article published on 14 May 2018

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

scientific article published on 13 March 2013

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

scientific article published on 01 April 2019

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

scientific article published in 2021

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

scientific article

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

scientific article published on 22 June 2018

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

scientific article

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

scientific article published on 15 May 2013

NOD2 mosaicism in Blau syndrome.

scientific article published on 28 September 2015

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

scientific article published on 9 January 2017

P02-002 - IL36RN mutations in patients with DITRA.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 May 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.

scientific article published on 28 August 2015

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

scientific article

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

scientific article published on 28 September 2015

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

scientific article published on 10 December 2013

Somatic NOD2 mosaicism in Blau syndrome

scientific article

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

scientific article published on 17 September 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.

scientific article published on 18 March 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.

scientific article

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

scientific article published on 01 April 2008

List of works by Eva Gonzalez-Roca

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]