Lista de obras - David A van Heel - Dominio Público Uruguay

A common CTLA4 haplotype associated with coeliac disease

artículo científico publicado en 2005

A genetic perspective on coeliac disease

artículo científico publicado en 2010

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

artículo científico publicado en 2007

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A revised sequence of the human beta7 integrin gene (ITGB7) promoter region obtained by inverse PCR.

artículo científico publicado en 2000

A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care

artículo científico publicado en 2020

A structural and immunological basis for the role of human leukocyte antigen DQ8 in celiac disease

artículo científico publicado en 2007

Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease

artículo científico publicado en 2009

Antagonists and non-toxic variants of the dominant wheat gliadin T cell epitope in coeliac disease

artículo científico publicado en 2006

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

artículo científico publicado en 2017

Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease

article

Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population

artículo científico publicado en 2003

Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families

article

Association study of the IL18RAP locus in three European populations with coeliac disease

artículo científico publicado en 2008

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis

artículo científico publicado en 2007

Causal Analyses, Statistical Efficiency And Phenotypic Precision Through Recall-By-Genotype Study Design

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

artículo científico publicado en 2020

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

artículo científico publicado en 2009

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage

scholarly article published 27 September 2018

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

scientific article published on 01 February 2020

Colonoscopic appearances and diagnosis of intussusception due to large-bowel lipoma

artículo científico publicado en 1999

Common and different genetic background for rheumatoid arthritis and coeliac disease

artículo científico publicado en 2009

Comparative methylomics reveals gene-body H3K36me3 in Drosophila predicts DNA methylation and CpG landscapes in other invertebrates.

artículo científico publicado en 2011

Comprehensive, quantitative mapping of T cell epitopes in gluten in celiac disease.

artículo científico publicado en 2010

Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms.

artículo científico publicado en 2009

Crohn's disease: genetic susceptibility, bacteria, and innate immunity

artículo científico publicado en 2001

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

artículo científico publicado en 2013

Detecting the risks of osteoporotic fractures in coeliac disease

artículo científico publicado en 2003

Detection of muramyl dipeptide-sensing pathway defects in patients with Crohnʼs disease

artículo científico publicado en 2006

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

artículo científico publicado en 2008

Diabetic neuropathic cachexia: the importance of positive recognition and early nutritional support

article

Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology

artículo científico publicado en 2014

Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms

artículo científico publicado en 2008

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

artículo científico publicado en 2017

Evaluating drug targets through human loss-of-function genetic variation

artículo científico publicado en 2020

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

artículo científico publicado en 2010

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

scientific article published on 30 May 2018

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

artículo científico publicado en 2015

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

artículo científico publicado en 2015

Fine mapping of theIBD1 locus did not identify Crohn disease-associatedNOD2 variants: Implications for complex disease genetics

article

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

artículo científico publicado en 2018

Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis

artículo científico publicado en 2003

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

artículo científico publicado en 2008

Genetic insights into common pathways and complex relationships among immune-mediated diseases

artículo científico publicado en 2013

Genetic variation in myosin IXB is associated with ulcerative colitis

artículo científico publicado en 2006

Genetics in coeliac disease.

artículo científico publicado en 2005

Genetics of inflammatory bowel disease--an update.

artículo científico publicado en 2001

Genetics of inflammatory bowel disease: a reappraisal.

artículo científico publicado en 2000

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

artículo científico publicado en 2010

Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31.

artículo científico publicado en 2003

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.

artículo científico publicado en 2014

Health and population effects of rare gene knockouts in adult humans with related parents

artículo científico publicado en 2016

Helicobacter pylori: beware "blind" eradication!

artículo científico publicado en 1998

High resolution MIC genotyping: Design and application to the investigation of inflammatory bowel disease susceptibility

artículo científico publicado en 2002

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

artículo científico publicado en 2004

Human pancreatic secretory trypsin inhibitor stabilizes intestinal mucosa against noxious agents

artículo científico publicado en 2007

Identification of novel polymorphisms in the beta7 integrin gene: family-based association studies in inflammatory bowel disease.

artículo científico publicado en 2001

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors

artículo científico publicado en 2002

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs

artículo científico publicado en 2004

Inflammatory skin and bowel disease linked to ADAM17 deletion

artículo científico publicado en 2011

Interleukin 15: its role in intestinal inflammation.

artículo científico publicado en 2006

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

artículo científico publicado en 2016

MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects

artículo científico publicado en 2011

Modulation of dendritic cell phenotype and functionin anin vitromodel of the intestinal epithelium

article

Multiple common variants for celiac disease influencing immune gene expression

artículo científico publicado en 2010

Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease

artículo científico publicado en 2005

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

artículo científico publicado en 2011

NOD2 (CARD15), the first susceptibility gene for Crohn's disease

artículo científico publicado en 2001

NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes - Possible implications for NOD2-associated Crohn's disease

artículo científico publicado en 2007

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

New susceptibility genes for ulcerative colitis

artículo científico publicado en 2008

Newly identified genetic risk variants for celiac disease related to the immune response

artículo científico publicado en 2008

No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study

artículo científico publicado en 2008

Normal responses to specific NOD1-activating peptidoglycan agonists in the presence of the NOD2 frameshift and other mutations in Crohn's disease

article

Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases

artículo científico publicado en 2007

Novel presentation of coeliac disease after following the Atkins' low carbohydrate diet

artículo científico publicado en 2005

Pervasive sharing of genetic effects in autoimmune disease

artículo científico publicado en 2011

Probiotics in inflammatory bowel disease: is it all gut flora modulation?

artículo científico publicado en 2004

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

article published in 2001

Role ofNOD2 variants in spondylarthritis

scientific article published on 01 June 2002

Sex differences in HLA DQ in celiac disease.

artículo científico publicado en 2009

Shared and distinct genetic variants in type 1 diabetes and celiac disease

artículo científico publicado en 2008

Synergistic enhancement of Toll-like receptor responses by NOD1 activation

article

TUCAN (CARD8) genetic variants and inflammatory bowel disease.

artículo científico publicado en 2006

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

artículo científico publicado en 2003

The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.

artículo científico publicado en 2014

The power of genetic diversity in genome-wide association studies of lipids

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA

artículo científico publicado en 2011

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

artículo científico publicado en 2020

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

artículo científico publicado en 2022

Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

artículo científico publicado en 2008

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

artículo científico publicado en 2012

Unusual Malfunction of Percutaneous Endoscopic Jejunostomy Feeding Tubes in Patients with Intestinal Dysmotility

artículo científico publicado en 2004

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

artículo científico publicado en 2015

Lista de obras de David A van Heel

A common CTLA4 haplotype associated with coeliac disease

A genetic perspective on coeliac disease

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

A revised sequence of the human beta7 integrin gene (ITGB7) promoter region obtained by inverse PCR.

A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care

A structural and immunological basis for the role of human leukocyte antigen DQ8 in celiac disease

Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease

Antagonists and non-toxic variants of the dominant wheat gliadin T cell epitope in coeliac disease

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease

Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population

Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families

Association study of the IL18RAP locus in three European populations with coeliac disease

Associations of autozygosity with a broad range of human phenotypes

Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis

Causal Analyses, Statistical Efficiency And Phenotypic Precision Through Recall-By-Genotype Study Design

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

Colonoscopic appearances and diagnosis of intussusception due to large-bowel lipoma

Common and different genetic background for rheumatoid arthritis and coeliac disease

Comparative methylomics reveals gene-body H3K36me3 in Drosophila predicts DNA methylation and CpG landscapes in other invertebrates.

Comprehensive, quantitative mapping of T cell epitopes in gluten in celiac disease.

Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms.

Crohn's disease: genetic susceptibility, bacteria, and innate immunity

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

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

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Detecting the risks of osteoporotic fractures in coeliac disease

Detection of muramyl dipeptide-sensing pathway defects in patients with Crohnʼs disease

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

Diabetic neuropathic cachexia: the importance of positive recognition and early nutritional support

Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology

Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

Evaluating drug targets through human loss-of-function genetic variation

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

Fine mapping of theIBD1 locus did not identify Crohn disease-associatedNOD2 variants: Implications for complex disease genetics

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

Genetic insights into common pathways and complex relationships among immune-mediated diseases

Genetic variation in myosin IXB is associated with ulcerative colitis

Genetics in coeliac disease.

Genetics of inflammatory bowel disease--an update.

Genetics of inflammatory bowel disease: a reappraisal.

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31.

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.

Health and population effects of rare gene knockouts in adult humans with related parents

Helicobacter pylori: beware "blind" eradication!

High resolution MIC genotyping: Design and application to the investigation of inflammatory bowel disease susceptibility

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

Human pancreatic secretory trypsin inhibitor stabilizes intestinal mucosa against noxious agents

Identification of novel polymorphisms in the beta7 integrin gene: family-based association studies in inflammatory bowel disease.

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

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

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs

Inflammatory skin and bowel disease linked to ADAM17 deletion

Interleukin 15: its role in intestinal inflammation.

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects

Modulation of dendritic cell phenotype and functionin anin vitromodel of the intestinal epithelium

Multiple common variants for celiac disease influencing immune gene expression

Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

NOD2 (CARD15), the first susceptibility gene for Crohn's disease

NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes - Possible implications for NOD2-associated Crohn's disease

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

New susceptibility genes for ulcerative colitis

Newly identified genetic risk variants for celiac disease related to the immune response

No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study