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List of works by Jose Ramon Bilbao

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

scientific article
A long noncoding RNA associated with susceptibility to celiac disease

scientific article published on April 2016
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

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

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

scientific article published on 23 May 2013
DNA methylation in childhood asthma: an epigenome-wide meta-analysis

scientific article published on 26 February 2018
Coregulation and modulation of NFκB-related genes in celiac disease: uncovered aspects of gut mucosal inflammation

scientific article published on 24 October 2013
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

scientific article published on 15 June 2007
Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes

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

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

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

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

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

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

scientific article published on 12 November 2014
HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease

scientific article published on 01 July 2002
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

scientific article published in September 1998
HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

scientific article published on 01 November 2003
MICA response to gliadin in intestinal mucosa from celiac patients.

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

scientific article published on 5 May 2005
THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge

scientific article
Alteration of tight junction gene expression in celiac disease.

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

scientific article published on March 2010
Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease

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

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

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

scientific article published on 17 May 2010
No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population

scientific article published on 01 October 2006
Angiogenesis-related gene expression analysis in celiac disease.

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

scientific article published on 11 July 2006
Combined Functional and Positional Gene Information for the Identification of Susceptibility Variants in Celiac Disease

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

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

article
Celiac disease in the Mediterranean area.

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

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

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

scientific article published on 31 July 2017
No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

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

scientific article published on 01 November 2003
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

scientific article published on 01 September 1998
Detection of atomic scale changes in the free volume void size of three-dimensional colorectal cancer cell culture using positron annihilation lifetime spectroscopy

scientific article (publication date: 2014)
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

scientific article published in July 2001
The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region

scientific article published in Scientific Reports
Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

scientific article
No association of INS-VNTR genotype and IAA autoantibodies

scientific article published on 01 December 2004
Evidence that the COMTVal158Met polymorphism moderates subclinical psychotic and affective symptoms in unaffected first-degree relatives of patients with schizophrenia

scientific article published on 6 March 2008
Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures

scientific article published on 10 July 2019
Upregulation of KIR3DL1 gene expression in intestinal mucosa in active celiac disease.

scientific article published on 13 May 2011
Association of the IL-15 and IL-15Rα genes with celiac disease

scientific article published on 21 July 2017

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