Lista de obras - Stéphane Bézieau - Dominio Público Uruguay

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

artículo científico publicado en 2018

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

artículo científico publicado en 2012

A dominant vimentin variant causes a rare syndrome with premature aging

artículo científico publicado en 2020

A faster strategy for prenatal diagnosis of fragile X syndrome.

artículo científico publicado en 2010

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

artículo científico publicado en 2015

A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica

article

A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion

artículo científico publicado en 2002

ADAM15 to α5β1 integrin switch in colon carcinoma cells: A late event in cancer progression associated with tumor dedifferentiation and poor prognosis

article

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation Found in a Patient with an Early-Onset

article

Activating Ras mutations in patients with plasma-cell disorders: a reappraisal

scientific article published on 01 August 2002

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

artículo científico publicado en 2015

An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.

artículo científico publicado en 2011

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

artículo científico publicado en 2009

Assignment of 48 ESTs to Chromosome 13 Band q14.3 and Expression Pattern for ESTs Located in the Core Region Deleted in B-CLL

scientific article published on 01 September 1998

BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated

artículo científico publicado en 2010

Bases moléculaires de l’acrodermatite entéropathique

artículo científico publicado en 2004

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

artículo científico publicado en 2017

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

artículo científico publicado en 2015

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

artículo científico publicado en 2013

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

artículo científico publicado en 2012

Clinical utility gene card for: Biotinidase deficiency-update 2015.

artículo científico publicado en 2015

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

artículo científico publicado en 2012

Clinical utility gene card for: acrodermatitis enteropathica

artículo científico publicado en 2011

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

artículo científico publicado en 2015

Clinical utility gene card for: biotinidase deficiency

artículo científico publicado en 2012

Clinical zinc deficiency as early presentation of Wilson disease

artículo científico publicado en 2015

Clinical, histological, and molecular risk factors for cancer recurrence in patients with stage II colon cancer

artículo científico publicado en 2016

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

artículo científico publicado en 2007

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

artículo científico publicado en 2013

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.

artículo científico publicado en 1997

Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability.

artículo científico publicado en 2017

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci

artículo científico publicado en 2015

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

artículo científico publicado en 2016

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

scientific article published on 04 July 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

artículo científico publicado en 2012

Differential roles of Hath1, MUC2 and P27Kip1 in relation with gamma-secretase inhibition in human colonic carcinomas: a translational study

artículo científico publicado en 2013

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

artículo científico publicado en 2017

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scholarly article published in Nature Genetics

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

artículo científico publicado en 2014

Exclusion of Leu1 and Leu2 genes as tumor suppressor genes in 13q14.3-deleted B-CLL

article

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

artículo científico publicado en 2015

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

artículo científico publicado en 2016

Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk

artículo científico publicado en 2020

Gene panel sequencing in idiopathic erythrocytosis

artículo científico publicado en 2017

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

scientific article published on 27 August 2013

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variations of the A13/A14 repeat located within the EGFR 3' untranslated region have no oncogenic effect in patients with colorectal cancer

artículo científico publicado en 2013

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

artículo científico publicado en 2016

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

artículo científico publicado en 2015

Genome-wide search for gene-gene interactions in colorectal cancer

artículo científico publicado en 2012

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

artículo científico publicado en 2016

GermlineRETV804M mutation associated with multiple endocrine neoplasia type 2A

artículo científico publicado en 2004

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 2022

HLA-E/β2 microglobulin overexpression in colorectal cancer is associated with recruitment of inhibitory immune cells and tumor progression

artículo científico publicado en 2012

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Hierarchical clustering identifies a subgroup of colonic adenocarcinomas expressing crypt-like differentiation markers, associated with MSS status and better prognosis

scientific article published on 11 February 2015

High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis

artículo científico publicado en 2001

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

artículo científico publicado en 2012

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

artículo científico publicado en 2002

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

artículo científico publicado en 2015

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

artículo científico publicado en 2011

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia

artículo científico

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

artículo científico publicado en 2008

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

scientific article published on 12 February 2020

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Mendelian randomization analysis of C-reactive protein on colorectal cancer risk

scientific article published on 01 June 2019

Meta-analysis of new genome-wide association studies of colorectal cancer risk

artículo científico publicado en 2011

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Molecular misdiagnosis in type 2B von Willebrand disease

scientific article published on 01 October 2006

Molecular screening of interleukin-6 gene promoter and influence of -174G/C polymorphism on breast cancer

artículo científico publicado en 2009

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

artículo científico publicado en 2003

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

artículo científico publicado en 2013

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome

scientific article published on 22 August 2018

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

artículo científico publicado en 2019

Novel KCNB1 mutation associated with non-syndromic intellectual disability

artículo científico publicado en 2016

Over-expression of neurotensin high-affinity receptor 1 (NTS1) in relation with its ligand neurotensin (NT) and nuclear ß-catenin in inflammatory bowel disease-related oncogenesis

article

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

artículo científico publicado en 2009

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

artículo científico publicado en 2016

Powerful Set-Based Gene-Environment Interaction Testing Framework for Complex Diseases

artículo científico publicado en 2015

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one‐stage and chromogenic factor VIII activity ⬇️

artículo científico publicado el 1 de marzo de 2011

Reappraisal of the so-called 'villous tumours' of the rectosigmoid, based on histological, immunohistochemical and genotypic features

artículo científico publicado en 2014

SBERIA: set-based gene-environment interaction test for rare and common variants in complex diseases

artículo científico publicado en 2013

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

artículo científico publicado en 2017

Searching for secondary findings: considering actionability and preserving the right not to know

scientific article published on 11 June 2019

Telomere structure and maintenance gene variants and risk of five cancer types

artículo científico publicado en 2016

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The PPAR(gamma) K422Q mutation does not contribute to troglitazone inefficiency in colon cancer treatment

artículo científico publicado en 2005

The Tunisian population history through the Crigler-Najjar type I syndrome

artículo científico publicado en 2008

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

artículo científico publicado en 2007

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

artículo científico publicado en 2017

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

artículo científico publicado en 2014

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

artículo científico publicado en 2011

Lista de obras de Stéphane Bézieau

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.

A dominant vimentin variant causes a rare syndrome with premature aging

A faster strategy for prenatal diagnosis of fragile X syndrome.

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica

A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion

ADAM15 to α5β1 integrin switch in colon carcinoma cells: A late event in cancer progression associated with tumor dedifferentiation and poor prognosis

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation Found in a Patient with an Early-Onset

Activating Ras mutations in patients with plasma-cell disorders: a reappraisal

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

Assignment of 48 ESTs to Chromosome 13 Band q14.3 and Expression Pattern for ESTs Located in the Core Region Deleted in B-CLL

BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated

Bases moléculaires de l’acrodermatite entéropathique

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Clinical utility gene card for: acrodermatitis enteropathica

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Clinical utility gene card for: biotinidase deficiency

Clinical zinc deficiency as early presentation of Wilson disease

Clinical, histological, and molecular risk factors for cancer recurrence in patients with stage II colon cancer

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.

Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability.

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

Differential roles of Hath1, MUC2 and P27Kip1 in relation with gamma-secretase inhibition in human colonic carcinomas: a translational study

Discovery of common and rare genetic risk variants for colorectal cancer

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

Exclusion of Leu1 and Leu2 genes as tumor suppressor genes in 13q14.3-deleted B-CLL

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk

Gene panel sequencing in idiopathic erythrocytosis

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Genetic variations of the A13/A14 repeat located within the EGFR 3' untranslated region have no oncogenic effect in patients with colorectal cancer

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

Genome-wide search for gene-gene interactions in colorectal cancer

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

GermlineRETV804M mutation associated with multiple endocrine neoplasia type 2A

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

HLA-E/β2 microglobulin overexpression in colorectal cancer is associated with recruitment of inhibitory immune cells and tumor progression

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hierarchical clustering identifies a subgroup of colonic adenocarcinomas expressing crypt-like differentiation markers, associated with MSS status and better prognosis

High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Mendelian randomization analysis of C-reactive protein on colorectal cancer risk

Meta-analysis of new genome-wide association studies of colorectal cancer risk

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Molecular misdiagnosis in type 2B von Willebrand disease