Lista de obras - Jose Ramon Bilbao - Dominio Público Uruguay

5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease

artículo científico publicado en 2003

A Celiac Diasease Associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells.

artículo científico publicado en 2018

A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes

artículo científico publicado en 2021

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

artículo científico publicado en 2005

A long noncoding RNA associated with susceptibility to celiac disease

artículo científico publicado en 2016

A novel RT-QPCR-based assay for the relative quantification of residue specific m6A RNA methylation

scientific article published on 12 March 2019

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

artículo científico publicado en 1998

A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease.

artículo científico publicado en 2010

A submicroscopic deletion of 11p13 associated with the WAGR syndrome.

artículo científico publicado en 2003

Accuracy in copy number calling by qPCR and PRT: a matter of DNA.

artículo científico publicado en 2011

Alteration of tight junction gene expression in celiac disease.

artículo científico publicado en 2014

Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease

scientific article published on 17 May 2010

Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease

artículo científico publicado en 2016

Angiogenesis-related gene expression analysis in celiac disease.

artículo científico publicado en 2012

Anomalous behaviour of the 5' insulin gene polymorphism allele 814: lack of association with Type I diabetes in Basques. GEPV-N Group. Basque-Navarre Endocrinology and Paediatrics

artículo científico publicado en 1998

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

article

Association of the IL-15 and IL-15Rα genes with celiac disease

artículo científico publicado en 2017

Associations between COMTVal158Met polymorphism and cognition: direct or indirect effects?

artículo científico publicado en 2006

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

artículo científico publicado en 2001

Celiac disease in the Mediterranean area.

artículo científico publicado en 2014

Characterization of highly fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Viscaya

artículo científico publicado en 2008

Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures

artículo científico publicado en 2019

Combined Functional and Positional Gene Information for the Identification of Susceptibility Variants in Celiac Disease

article

Comparison of Illumina 450K and EPIC arrays in placental DNA methylation

scientific article published on 28 June 2019

Concentrations of urinary arsenic species in relation to rice and seafood consumption among children living in Spain.

artículo científico publicado en 2017

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

artículo científico publicado en 2006

Coregulation and modulation of NFκB-related genes in celiac disease: uncovered aspects of gut mucosal inflammation

artículo científico publicado en 2013

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

artículo científico publicado en 2018

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

artículo científico publicado en 2011

Detection of atomic scale changes in the free volume void size of three-dimensional colorectal cancer cell culture using positron annihilation lifetime spectroscopy

artículo científico publicado en 2014

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

artículo científico publicado en 2007

Evidence that the COMTVal158Met polymorphism moderates subclinical psychotic and affective symptoms in unaffected first-degree relatives of patients with schizophrenia

artículo científico publicado en 2008

Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease

artículo científico publicado en 2014

Fast SARS-CoV-2 detection protocol based on RNA precipitation and RT-qPCR in nasopharyngeal swab samples

artículo científico publicado en 2020

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

artículo científico publicado en 2013

Functional Study of a Novel Single Deletion in theTITF1/NKX2.1Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress

article

HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease

artículo científico publicado en 2002

HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

artículo científico publicado en 2003

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

artículo científico publicado en 2013

Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

article

Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease

artículo científico

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

artículo científico publicado en 2017

MICA response to gliadin in intestinal mucosa from celiac patients.

artículo científico publicado en 2004

MethylCal: Bayesian calibration of methylation levels

artículo científico publicado en 2019

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

artículo científico publicado en 2007

No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population

artículo científico publicado en 2006

No Evidence of Pancreatic Autoimmunity among Patients with Multiple Sclerosis

article

No association of INS-VNTR genotype and IAA autoantibodies

scientific article published on 01 December 2004

No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

article

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

artículo científico publicado en 2020

Profiling Celiac Disease-Related Transcriptional Changes

artículo científico publicado en 2017

Prospective population screening for celiac disease: high prevalence in the first 3 years of life.

artículo científico publicado en 2004

Recommendations to report and interpret HLA genetic findings in coeliac disease

artículo científico publicado en 2018

Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes

article

Subcellular Fractionation from Fresh and Frozen Gastrointestinal Specimens

artículo científico publicado en 2018

TH17 (and TH1) signatures of intestinal biopsies of CD patients in response to gliadin

article

THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge

artículo científico publicado en 2013

The DNA methylome of inflammatory bowel disease (IBD) reflects intrinsic and extrinsic factors in intestinal mucosal cells

scientific article published on 12 April 2020

The functional R620W variant of the PTPN22 gene is associated with celiac disease.

artículo científico publicado en 2008

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

article

The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region

scientific article published in Scientific Reports

Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease

article

Transcription Factor Binding Site Enrichment Analysis in Co-Expression Modules in Celiac Disease.

artículo científico publicado en 2018

Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: comparison of IgG and IgA

scientific article published on 01 March 2007

Upregulation of KIR3DL1 gene expression in intestinal mucosa in active celiac disease.

artículo científico publicado en 2011

[Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency]

scientific article published on 01 May 2003

[Updates on coeliac disease]

artículo científico publicado en 2012

Lista de obras de Jose Ramon Bilbao

5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease

A Celiac Diasease Associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells.

A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

A long noncoding RNA associated with susceptibility to celiac disease

A novel RT-QPCR-based assay for the relative quantification of residue specific m6A RNA methylation

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease.

A submicroscopic deletion of 11p13 associated with the WAGR syndrome.

Accuracy in copy number calling by qPCR and PRT: a matter of DNA.

Alteration of tight junction gene expression in celiac disease.

Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease

Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease

Angiogenesis-related gene expression analysis in celiac disease.

Anomalous behaviour of the 5' insulin gene polymorphism allele 814: lack of association with Type I diabetes in Basques. GEPV-N Group. Basque-Navarre Endocrinology and Paediatrics

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

Association of the IL-15 and IL-15Rα genes with celiac disease

Associations between COMTVal158Met polymorphism and cognition: direct or indirect effects?

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

Celiac disease in the Mediterranean area.

Characterization of highly fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Viscaya

Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures

Combined Functional and Positional Gene Information for the Identification of Susceptibility Variants in Celiac Disease

Comparison of Illumina 450K and EPIC arrays in placental DNA methylation

Concentrations of urinary arsenic species in relation to rice and seafood consumption among children living in Spain.

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

Coregulation and modulation of NFκB-related genes in celiac disease: uncovered aspects of gut mucosal inflammation

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Detection of atomic scale changes in the free volume void size of three-dimensional colorectal cancer cell culture using positron annihilation lifetime spectroscopy

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

Evidence that the COMTVal158Met polymorphism moderates subclinical psychotic and affective symptoms in unaffected first-degree relatives of patients with schizophrenia

Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease

Fast SARS-CoV-2 detection protocol based on RNA precipitation and RT-qPCR in nasopharyngeal swab samples

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

Functional Study of a Novel Single Deletion in theTITF1/NKX2.1Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress

HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease

HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

MICA response to gliadin in intestinal mucosa from celiac patients.

MethylCal: Bayesian calibration of methylation levels

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population

No Evidence of Pancreatic Autoimmunity among Patients with Multiple Sclerosis

No association of INS-VNTR genotype and IAA autoantibodies

No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

Profiling Celiac Disease-Related Transcriptional Changes

Prospective population screening for celiac disease: high prevalence in the first 3 years of life.

Recommendations to report and interpret HLA genetic findings in coeliac disease

Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes

Subcellular Fractionation from Fresh and Frozen Gastrointestinal Specimens

TH17 (and TH1) signatures of intestinal biopsies of CD patients in response to gliadin

THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge

The DNA methylome of inflammatory bowel disease (IBD) reflects intrinsic and extrinsic factors in intestinal mucosal cells

The functional R620W variant of the PTPN22 gene is associated with celiac disease.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region

Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease

Transcription Factor Binding Site Enrichment Analysis in Co-Expression Modules in Celiac Disease.

Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: comparison of IgG and IgA

Upregulation of KIR3DL1 gene expression in intestinal mucosa in active celiac disease.

[Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency]

[Updates on coeliac disease]