Lista de obras - Sébastien Küry - Dominio Público Uruguay

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

artículo científico publicado en 2011

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 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 novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane

artículo científico publicado en 2002

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

artículo científico publicado en 2017

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

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels

artículo científico publicado en 2015

Acrodermatitis enteropathica: a review of 29 Tunisian cases

artículo científico publicado en 2010

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant

artículo científico publicado en 2011

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 update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

artículo científico publicado en 2009

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

artículo científico publicado en 2015

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

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

artículo científico publicado en 2012

Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.

artículo científico publicado en 2017

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

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

artículo científico publicado en 2015

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, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.

artículo científico publicado en 2009

Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2019

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

artículo científico publicado en 2016

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

artículo científico publicado en 2012

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

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

artículo científico publicado en 2014

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

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

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 scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

artículo científico publicado en 2007

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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

artículo científico publicado en 2020

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

artículo científico publicado en 2016

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 2022

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

artículo científico publicado en 2018

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

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 Susceptibility Loci and Genes for Colorectal Cancer Risk

artículo científico publicado en 2016

Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Mendelian randomization study of height and risk of colorectal cancer

artículo científico publicado en 2015

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

Missense variant contribution to USP9X-female syndrome

artículo científico publicado en 2020

Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15.

artículo científico publicado en 2003

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

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

artículo científico publicado en 2019

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

artículo científico publicado en 2017

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

artículo científico publicado en 2012

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Risk factors for hepatocellular carcinoma in Caucasian patients with non-viral cirrhosis: the importance of prior obesity.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

artículo científico publicado en 2018

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

artículo científico publicado en 2007

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

artículo científico publicado en 2009

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

artículo científico publicado en 2017

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study

artículo científico

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

artículo científico publicado en 2016

[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4].

artículo científico publicado en 2006

Lista de obras de Sébastien Küry

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

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 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 novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

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

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels

Acrodermatitis enteropathica: a review of 29 Tunisian cases

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant

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 update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

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).

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

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

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, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.

Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog.

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

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

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

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

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

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

Discovery of common and rare genetic risk variants for colorectal cancer

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

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

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

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

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

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

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

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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

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 Susceptibility Loci and Genes for Colorectal Cancer Risk

Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica

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

Lessons learned from additional research analyses of unsolved clinical exome cases

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

Mendelian randomization study of height and risk of colorectal cancer

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

Missense variant contribution to USP9X-female syndrome

Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15.

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

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

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

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Rare and low-frequency coding variants alter human adult height

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

Risk factors for hepatocellular carcinoma in Caucasian patients with non-viral cirrhosis: the importance of prior obesity.

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

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function