Lista de obras - Anita L DeStefano - Dominio Público Uruguay

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

artículo científico publicado en 2017

A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study

artículo científico publicado en 2003

A locus for autosomal recessive achromatopsia on human chromosome 8q

artículo científico publicado en 1999

A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2

article

APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis

artículo científico publicado en 2013

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

artículo científico publicado en 2013

Association of HSP70 and its co-chaperones with Alzheimer's disease

artículo científico publicado en 2011

Association of NEDD4L ubiquitin ligase with essential hypertension

artículo científico publicado en 2005

Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites ⬇️

artículo científico publicado el 1 de octubre de 2003

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium

artículo científico publicado en 2014

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Bivariate heritability of total and regional brain volumes: the Framingham Study

artículo científico publicado en 2009

Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls

artículo científico publicado en 2009

Common variants at 12q14 and 12q24 are associated with hippocampal volume

artículo científico publicado en 2012

Common variants at 6q22 and 17q21 are associated with intracranial volume

artículo científico publicado en 2012

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

artículo científico publicado en 2012

Copy number variation in familial Parkinson disease

artículo científico publicado en 2011

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

Correlation between CAG repeat length and clinical features in Machado-Joseph disease ⬇️

artículo científico publicado el 1 de julio de 1995

Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.

artículo científico publicado en 2007

Detecting linkage for a complex disease using simulated extended pedigrees

artículo científico publicado en 1997

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

article

Estrogen-related and other disease diagnoses preceding Parkinson's disease

artículo científico publicado en 2010

Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease

artículo científico publicado en 2016

Evaluation of population stratification adjustment using genome-wide or exonic variants

scientific article published on 30 June 2020

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study

article

Exome Chip Analysis Identifies Low-Frequency a on Brain Magnetic Imaging

Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios

artículo científico publicado en 2005

Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications ⬇️

artículo científico publicado el 3 de octubre de 1997

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

artículo científico publicado en 2015

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project

artículo científico publicado en 2018

Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach

artículo científico publicado en 2003

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study

artículo científico publicado en 2007

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

artículo científico publicado en 2015

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

artículo científico publicado en 2012

Genetic variants of WNK4 in whites and African Americans with hypertension

artículo científico publicado en 2003

Genome-Wide Scan for Pulse Pressure in the National Heart, Lung and Blood Institute’s Framingham Heart Study

article by Anita L. DeStefano et al published August 2004 in Hypertension

Genome-wide Association Study Links APOEϵ4 and BACE1 Variants with Plasma Amyloid β Levels

Genome-wide analysis of genetic loci associated with Alzheimer disease

artículo científico publicado en 2010

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

artículo científico publicado en 2009

Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium

artículo científico publicado en 2011

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

artículo científico publicado en 2015

Genome-wide scan for white matter hyperintensity: the Framingham Heart Study

artículo científico publicado en 2005

Genomewide association studies of stroke

artículo científico publicado en 2009

Genomewide association study for onset age in Parkinson disease

artículo científico publicado en 2009

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

artículo científico publicado en 2008

Genomewide linkage analysis to presbycusis in the Framingham Heart Study

artículo científico publicado en 2003

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease

artículo científico publicado en 2011

HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies

scientific article published on 22 June 2007

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

artículo científico publicado en 2008

Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study

artículo científico publicado en 2005

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

artículo científico publicado en 2008

Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels

artículo científico publicado en 2011

Identifying rare variants from exome scans: the GAW17 experience

artículo científico publicado en 2011

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

artículo científico publicado en 2006

Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring

artículo científico publicado en 2007

Is DFNA5 a susceptibility gene for age-related hearing impairment?

artículo científico publicado en 2002

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

artículo científico publicado en 2013

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

artículo científico publicado en 2012

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2018

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

artículo científico publicado en 2022

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

artículo científico publicado en 2015

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

artículo científico publicado en 2002

PLD3 variants in population studies

artículo científico publicado en 2015

Parental occurrence of stroke and risk of stroke in their children: the Framingham study

artículo científico publicado en 2010

Pathway analysis following association study ⬇️

artículo científico publicado el 29 de noviembre de 2011

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

artículo científico publicado en 2015

Polymorphisms in the promoter region of catalase gene and essential hypertension

artículo científico publicado en 2005

Postmortem Interval Influences α-Synuclein Expression in Parkinson Disease Brain

artículo científico publicado en 2012

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2019

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

artículo científico publicado en 2016

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

artículo científico publicado en 2015

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

artículo científico publicado en 2008

Risk of Parkinson's disease after tamoxifen treatment

artículo científico publicado en 2010

Sepiapterin reductase expression is increased in Parkinson's disease brain tissue

artículo científico publicado en 2007

Sequence variation of bradykinin receptors B1 and B2 and association with hypertension

artículo científico publicado en 2005

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies

artículo científico publicado en 2016

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

artículo científico publicado en 2014

The Alzheimer's Disease Sequencing Project: Study design and sample selection

artículo científico publicado en 2017

The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

artículo científico publicado en 2007

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

artículo científico publicado en 2008

Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networks

artículo científico publicado en 2007

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

artículo científico publicado en 2018

Lista de obras de Anita L DeStefano

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study

A locus for autosomal recessive achromatopsia on human chromosome 8q

A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2

APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

Association of HSP70 and its co-chaperones with Alzheimer's disease

Association of NEDD4L ubiquitin ligase with essential hypertension

Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites ⬇️

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Bivariate heritability of total and regional brain volumes: the Framingham Study

Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls

Common variants at 12q14 and 12q24 are associated with hippocampal volume

Common variants at 6q22 and 17q21 are associated with intracranial volume

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

Copy number variation in familial Parkinson disease

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Correlation between CAG repeat length and clinical features in Machado-Joseph disease ⬇️

Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.

Detecting linkage for a complex disease using simulated extended pedigrees

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

Estrogen-related and other disease diagnoses preceding Parkinson's disease

Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease

Evaluation of population stratification adjustment using genome-wide or exonic variants

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study

Exome Chip Analysis Identifies Low-Frequency a on Brain Magnetic Imaging

Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios

Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications ⬇️

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project

Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic architecture of subcortical brain structures in 38,851 individuals

Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

Genetic variants of WNK4 in whites and African Americans with hypertension

Genome-Wide Scan for Pulse Pressure in the National Heart, Lung and Blood Institute’s Framingham Heart Study

Genome-wide Association Study Links APOEϵ4 and BACE1 Variants with Plasma Amyloid β Levels

Genome-wide analysis of genetic loci associated with Alzheimer disease

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

Genome-wide scan for white matter hyperintensity: the Framingham Heart Study

Genomewide association studies of stroke

Genomewide association study for onset age in Parkinson disease

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

Genomewide linkage analysis to presbycusis in the Framingham Heart Study

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease

HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels

Identifying rare variants from exome scans: the GAW17 experience

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

New insights into the genetic etiology of Alzheimer's disease and related dementias

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

PLD3 variants in population studies

Parental occurrence of stroke and risk of stroke in their children: the Framingham study

Pathway analysis following association study ⬇️