Lista de obras - Maria Brion - Dominio Público Uruguay

29 Y-chromosome SNP analysis in European populations

A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

scientific article published on 20 August 2018

A collaborative study of the EDNAP group regarding Y-chromosome binary polymorphism analysis

artículo científico publicado en 2005

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy.

artículo científico publicado en 2013

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system

artículo científico publicado en 2010

A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: the retina 4 project.

artículo científico publicado en 2010

ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy

artículo científico publicado en 2016

Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise.

artículo científico publicado en 2005

Ancestry analysis in the 11-M Madrid bomb attack investigation

artículo científico publicado en 2009

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma

artículo científico publicado en 2015

Autosomal microsatellite data from Northwestern Colombia

artículo científico publicado en 2005

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

artículo científico

Chapter 20C The human Y-chromosome. Male-specific polymorphisms and forensic genetics

article

Chapter 30 The human Y chromosome male-specific polymorphisms and forensic genetics

article

Corrigendum to “Y-chromosome STR-haplotype typing in EI Salvador [Forensic Sci. Int. 142 (1) (2004) 45–49]”

scholarly article published in Forensic Science International

Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project

artículo científico publicado en 2008

Distribution of Y-chromosome STR defined haplotypes in Iberia

scientific article published on 01 May 2000

Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications.

artículo científico publicado en 2004

Forensic validation of the SNPforID 52-plex assay

artículo científico publicado en 2007

GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

artículo científico publicado en 2015

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic association study of age-related macular degeneration in the Spanish population

artículo científico publicado en 2010

Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population

artículo científico publicado en 2002

Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths

scientific article published on 18 July 2019

Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response

article

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

artículo científico publicado en 2010

Hierarchical analysis of 30 Y-chromosome SNPs in European populations

artículo científico publicado en 2004

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

article

Increased clopidogrel response is associated with ABCC3 expression: A pilot study

article

Innovative Strategies in Heart Failure: Present and Future

artículo científico publicado en 2018

Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite

artículo científico publicado en 2003

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

artículo científico publicado en 2013

Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS)

article

Large scale analysis of HCM mutations in sudden cardiac death

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

artículo científico

Medico-legal perspectives on sudden cardiac death in young athletes

artículo científico publicado en 2016

Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal).

artículo científico publicado en 2008

Molecular genetics of sudden cardiac death

artículo científico publicado en 2008

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

artículo científico publicado en 2009

New method to measure minisatellite variant repeat variation in population genetic studies

artículo científico publicado en 2002

New technologies in the genetic approach to sudden cardiac death in the young.

artículo científico publicado en 2010

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

article

Nineteen autosomal microsatellite data from Antioquia (Colombia).

artículo científico publicado en 2004

Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome

artículo científico publicado en 2013

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

artículo científico publicado en 2007

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

artículo científico publicado en 2008

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

artículo científico publicado en 2016

Pharmacogenomics of anti-platelet therapy focused on peripheral blood cells of coronary arterial disease patients

artículo científico publicado en 2013

Phylogenetic evidence for multiple independent duplication events at the DYS19 locus.

artículo científico publicado en 2007

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438.

artículo científico publicado en 2002

Polygenic risk score as a key factor in cardiovascular clinical prediction models

scientific article published on 17 February 2020

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.

artículo científico publicado en 2003

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

artículo científico publicado en 2017

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables

artículo científico publicado en 2014

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

artículo científico publicado en 2011

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

artículo científico publicado en 2016

RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population

artículo científico publicado en 2008

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome

artículo científico publicado en 2017

Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages

article

Research update for articles published in EJCI in 2016

article

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

artículo científico publicado en 2015

Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex

artículo científico publicado en 1999

SNP genotyping with single base extension-tag microarrays

SNPs in forensic genetics: a review on SNP typing methodologies

artículo científico publicado en 2005

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

artículo científico publicado en 2012

Sequenom MassArray™ application in the long QT syndrome mutation detection

Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

artículo científico publicado en 2019

Sudden unexpected death in the young - Value of massive parallel sequencing in postmortem genetic analyses

artículo científico publicado en 2018

The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.

artículo científico publicado en 2016

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

artículo científico publicado en 2008

The genetic male component of two South-Western Colombian populations

artículo científico publicado en 2008

The relationship between surname frequency and Y chromosome variation in Spain.

artículo científico publicado en 2015

The use of the LightCycler for the detection of Y chromosome SNPs

artículo científico publicado en 2001

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

artículo científico publicado en 2014

Y chromosome specific polymorphisms in forensic analysis

artículo científico publicado en 1999

Y-chromosomal DNA analysis in French male lineages.

artículo científico publicado en 2013

Y-chromosome STR-haplotype typing in El Salvador

artículo científico publicado en 2004

Y-chromosome haplotype analysis in Antioquia (Colombia).

artículo científico publicado en 2004

Y-chromosome variation in a Norwegian population sample

artículo científico publicado en 2001

Lista de obras de Maria Brion

29 Y-chromosome SNP analysis in European populations

A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

A collaborative study of the EDNAP group regarding Y-chromosome binary polymorphism analysis

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy.

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system

A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: the retina 4 project.

ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy

Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise.

Ancestry analysis in the 11-M Madrid bomb attack investigation

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma

Autosomal microsatellite data from Northwestern Colombia

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

Chapter 20C The human Y-chromosome. Male-specific polymorphisms and forensic genetics

Chapter 30 The human Y chromosome male-specific polymorphisms and forensic genetics

Corrigendum to “Y-chromosome STR-haplotype typing in EI Salvador [Forensic Sci. Int. 142 (1) (2004) 45–49]”

Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project

Distribution of Y-chromosome STR defined haplotypes in Iberia

Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications.

Forensic validation of the SNPforID 52-plex assay

GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic association study of age-related macular degeneration in the Spanish population

Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population

Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths

Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

Hierarchical analysis of 30 Y-chromosome SNPs in European populations

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

Increased clopidogrel response is associated with ABCC3 expression: A pilot study

Innovative Strategies in Heart Failure: Present and Future

Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS)

Large scale analysis of HCM mutations in sudden cardiac death

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

Medico-legal perspectives on sudden cardiac death in young athletes

Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal).

Molecular genetics of sudden cardiac death

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

New method to measure minisatellite variant repeat variation in population genetic studies

New technologies in the genetic approach to sudden cardiac death in the young.

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

Nineteen autosomal microsatellite data from Antioquia (Colombia).

Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

Pharmacogenomics of anti-platelet therapy focused on peripheral blood cells of coronary arterial disease patients

Phylogenetic evidence for multiple independent duplication events at the DYS19 locus.

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438.

Polygenic risk score as a key factor in cardiovascular clinical prediction models

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome

Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages

Research update for articles published in EJCI in 2016

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex

SNP genotyping with single base extension-tag microarrays

SNPs in forensic genetics: a review on SNP typing methodologies

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

Sequenom MassArray™ application in the long QT syndrome mutation detection

Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

Sudden unexpected death in the young - Value of massive parallel sequencing in postmortem genetic analyses

The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

The genetic male component of two South-Western Colombian populations

The relationship between surname frequency and Y chromosome variation in Spain.

The use of the LightCycler for the detection of Y chromosome SNPs

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

Y chromosome specific polymorphisms in forensic analysis

Y-chromosomal DNA analysis in French male lineages.

Y-chromosome STR-haplotype typing in El Salvador

Y-chromosome haplotype analysis in Antioquia (Colombia).