Lista de obras - Rafael de Cid - Dominio Público Uruguay

A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State

artículo científico publicado en 2019

A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders.

artículo científico publicado en 2007

A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder

artículo científico publicado en 2009

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

article

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

artículo científico publicado en 2015

A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

artículo científico publicado en 2009

ADAR1 affects HCV infection by modulating innate immune response

scientific article published in 2018

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment

artículo científico publicado en 2013

Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate

artículo científico publicado en 2009

Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.

artículo científico publicado en 2007

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

scientific article published on 05 February 2009

An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders

artículo científico publicado en 2009

Análisis de las regiones de predisposición a la psoriasis en la población española: evidencia de un gen principal implicado en la psoriasis en la región 6p21

Assessment of kinship detection using RNA-seq data

scientific article published on 01 December 2019

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

artículo científico publicado en 2008

Association of early-life exposure to household gas appliances and indoor nitrogen dioxide with cognition and attention behavior in preschoolers.

artículo científico publicado en 2009

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

artículo científico publicado en 2007

Association study of proposed candidate genes/regions in a population of Spanish asthmatics

scientific article published on 01 January 2000

BDNF variability in opioid addicts and response to methadone treatment: preliminary findings.

artículo científico publicado en 2008

Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

artículo científico publicado en 2007

CFTR and asthma in the French EGEA study

article

Changes in Population Health-Related Behaviors During a COVID-19 Surge: A Natural Experiment

artículo científico publicado en 2023

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

artículo científico publicado en 2002

DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood

artículo científico publicado en 2012

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

artículo científico publicado en 2011

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

artículo científico publicado en 2009

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

artículo científico publicado en 2014

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

artículo científico publicado en 2008

Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population

artículo científico publicado en 2018

Early life environment, neurodevelopment and the interrelation with atopy

artículo científico publicado en 2010

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

artículo científico publicado en 2002

Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder

artículo científico publicado en 2007

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

article

Functional double-negative T cells in the periphery express T cell receptor Vβ gene products that cause deletion of single-positive T cells

article

GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia.

artículo científico publicado en 2018

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

artículo científico publicado en 2022

GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers

artículo científico publicado en 2009

Gene-environment interactions in asthma

artículo científico publicado en 2006

Genomewide Association Study of Severe Covid-19 with Respiratory Failure

scientific article published on 17 June 2020

Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2

scientific article published on 01 March 2018

Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study

artículo científico publicado en 2007

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

artículo científico publicado en 1999

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

artículo científico publicado en 2001

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

artículo científico publicado en 2009

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

article

Influence of glutathione S-transferase polymorphisms on cognitive functioning effects induced by p,p'-DDT among preschoolers

artículo científico publicado en 2008

Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.

artículo científico publicado en 2003

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Missense mutations in the cystic fibrosis gene in adult patients with asthma

article

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

artículo científico publicado en 2007

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

article

Pipeline design to identify key features and classify the chemotherapy response on lung cancer patients using large-scale genetic data

scholarly article by María Gabriela Valdés published in November 2018

Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes

artículo científico publicado en 2010

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

artículo científico publicado en 2010

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data

artículo científico publicado en 2008

TNFA -308G>A in two international population-based cohorts and risk of asthma.

artículo científico publicado en 2008

Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS)

artículo científico publicado en 2009

Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition

artículo científico publicado en 2022

Lista de obras de Rafael de Cid

A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State

A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders.

A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder

A first update on mapping the human genetic architecture of COVID-19

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

ADAR1 affects HCV infection by modulating innate immune response

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment

Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate

Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders

Análisis de las regiones de predisposición a la psoriasis en la población española: evidencia de un gen principal implicado en la psoriasis en la región 6p21

Assessment of kinship detection using RNA-seq data

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

Association of early-life exposure to household gas appliances and indoor nitrogen dioxide with cognition and attention behavior in preschoolers.

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

Association study of proposed candidate genes/regions in a population of Spanish asthmatics

BDNF variability in opioid addicts and response to methadone treatment: preliminary findings.

Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

CFTR and asthma in the French EGEA study

Changes in Population Health-Related Behaviors During a COVID-19 Surge: A Natural Experiment

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population

Early life environment, neurodevelopment and the interrelation with atopy

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

Functional double-negative T cells in the periphery express T cell receptor Vβ gene products that cause deletion of single-positive T cells

GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia.

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers

Gene-environment interactions in asthma

Genomewide Association Study of Severe Covid-19 with Respiratory Failure

Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2

Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

Influence of glutathione S-transferase polymorphisms on cognitive functioning effects induced by p,p'-DDT among preschoolers

Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Missense mutations in the cystic fibrosis gene in adult patients with asthma

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

Pipeline design to identify key features and classify the chemotherapy response on lung cancer patients using large-scale genetic data

Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data

TNFA -308G>A in two international population-based cohorts and risk of asthma.

Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS)

Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition