Lista de obras - Stefan Coassin - Dominio Público Uruguay

A common variant in the adiponutrin gene influences liver enzyme values

artículo científico publicado en 2009

A comprehensive map of single base polymorphisms in the hypervariable LPA Kringle IV-2 copy number variation region

artículo científico publicado en 2018

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

scientific article published on 28 April 2020

A genome-wide association meta-analysis on apolipoprotein A-IV concentrations

scientific article published on 12 July 2016

A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms

artículo científico publicado en 2017

A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.

artículo científico publicado en 2017

A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave

artículo científico publicado en 2014

Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

artículo científico publicado en 2011

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

artículo científico publicado en 2011

Association of mitochondrial iron deficiency and dysfunction with idiopathic restless legs syndrome

artículo científico publicado en 2018

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis.

artículo científico publicado en 2018

CUBN is a gene locus for albuminuria

artículo científico publicado en 2011

Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation

artículo científico publicado en 2012

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

artículo científico publicado en 2009

Epidemiologic evidence of barometric pressure changes inducing increased reporting of oral pain

artículo científico publicado en 2011

Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study

artículo científico publicado en 2017

Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns

artículo científico publicado en 2018

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium

artículo científico publicado en 2012

Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins

artículo científico publicado en 2009

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review

artículo científico publicado en 2008

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

artículo científico publicado en 2015

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions

artículo científico publicado en 2008

Genome-wide association study of kidney function decline in individuals of European descent

artículo científico publicado en 2014

Geographically predominant genotypes of Aspergillus terreus species complex in Austria: s microsatellite typing study.

artículo científico publicado en 2015

INSIG2 polymorphism is neither associated with BMI nor with phenotypes of lipoprotein metabolism

artículo científico publicado en 2008

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

artículo científico publicado en 2012

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

artículo científico publicado en 2010

Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

scientific article published on 21 August 2020

Jordan’s anomaly in a case of Chanarin-Dorfman syndrome

artículo científico publicado en 2011

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

artículo científico publicado en 2016

Look beyond one's own nose: combination of information from publicly available sources reveals an association of GATA4 polymorphisms with plasma triglycerides

artículo científico publicado en 2011

Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox

artículo científico publicado en 2009

Lysis reagents, cell numbers, and calculation method influence high-throughput measurement of HDL-mediated cholesterol efflux capacity

artículo científico publicado en 2021

No association of two functional polymorphisms in human ALOX15 with myocardial infarction

artículo científico publicado en 2008

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

artículo científico publicado en 2016

Plasmid-normalized quantification of relative mitochondrial DNA copy number

artículo científico publicado en 2018

Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk

artículo científico publicado en 2013

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

artículo científico publicado en 2008

SNPflow: a lightweight application for the processing, storing and automatic quality checking of genotyping assays.

artículo científico publicado en 2013

Sex and age interaction with genetic association of atherogenic uric acid concentrations

artículo científico publicado en 2010

Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI

artículo científico publicado en 2008

Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.

artículo científico publicado en 2010

Temporary adhesion of the proseriate flatworm Minona ileanae

scientific article published on 09 September 2019

Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study

artículo científico publicado en 2016

When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping

artículo científico publicado en 2021

eCOMPAGT -- efficient combination and management of phenotypes and genotypes for genetic epidemiology

artículo científico publicado en 2009

Lista de obras de Stefan Coassin

A common variant in the adiponutrin gene influences liver enzyme values

A comprehensive map of single base polymorphisms in the hypervariable LPA Kringle IV-2 copy number variation region

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

A genome-wide association meta-analysis on apolipoprotein A-IV concentrations

A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms

A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.

A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave

Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

Association of mitochondrial iron deficiency and dysfunction with idiopathic restless legs syndrome

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis.

CUBN is a gene locus for albuminuria

Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

Epidemiologic evidence of barometric pressure changes inducing increased reporting of oral pain

Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study

Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium

Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions

Genome-wide association study of kidney function decline in individuals of European descent

Geographically predominant genotypes of Aspergillus terreus species complex in Austria: s microsatellite typing study.

INSIG2 polymorphism is neither associated with BMI nor with phenotypes of lipoprotein metabolism

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

Jordan’s anomaly in a case of Chanarin-Dorfman syndrome

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

Look beyond one's own nose: combination of information from publicly available sources reveals an association of GATA4 polymorphisms with plasma triglycerides

Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox

Lysis reagents, cell numbers, and calculation method influence high-throughput measurement of HDL-mediated cholesterol efflux capacity

No association of two functional polymorphisms in human ALOX15 with myocardial infarction

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Plasmid-normalized quantification of relative mitochondrial DNA copy number

Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

SNPflow: a lightweight application for the processing, storing and automatic quality checking of genotyping assays.

Sex and age interaction with genetic association of atherogenic uric acid concentrations

Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI

Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.

Temporary adhesion of the proseriate flatworm Minona ileanae

Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study

When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping

eCOMPAGT -- efficient combination and management of phenotypes and genotypes for genetic epidemiology