Lista de obras - Irene Pichler - Dominio Público Uruguay

35th Annual Meeting of the European Association for the Study of Diabetes

artículo científico

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

artículo científico publicado en 2009

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

artículo científico publicado en 2012

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

artículo científico publicado en 2010

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

CLOCK gene variants associate with sleep duration in two independent populations

artículo científico publicado en 2010

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

Co-occurrence of restless legs syndrome andParkin mutations in two families

artículo científico publicado en 2006

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

scientific article published on 24 October 2008

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2015

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

artículo científico publicado en 2010

Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance.

artículo científico publicado en 2018

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).

artículo científico publicado en 2008

Exome sequencing in a family with restless legs syndrome.

artículo científico publicado en 2012

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes

artículo científico publicado en 2012

Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene

scientific article published on 25 October 2019

Generation of hiPSC-Derived Functional Dopaminergic Neurons in Alginate-Based 3D Culture

artículo científico publicado en 2021

Genetic determinants of circulating sphingolipid concentrations in European populations

scientific article published on 02 October 2009

Genetic evidence of assortative mating in humans

article

Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006

artículo científico publicado en 2009

Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms

artículo científico publicado en 2006

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

artículo científico publicado en 2011

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

artículo científico publicado en 2009

Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman

artículo científico publicado en 2009

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

artículo científico publicado en 2015

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

artículo científico publicado en 2010

Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2

artículo científico publicado en 2024

Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis

article published in 2013

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

artículo científico publicado en 2006

Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene

artículo científico publicado en 2009

Linkage disequilibrium patterns and tagSNP transferability among European populations

artículo científico publicado en 2005

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels

artículo científico publicado en 2014

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

artículo científico publicado en 2018

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

artículo científico publicado en 2010

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2014

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

Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD.

artículo científico publicado en 2015

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease

artículo científico publicado en 2009

Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells ⬇️

scientific article published on 11 February 2019

Parkingene modifies the effect ofRLS4on the age at onset of restless legs syndrome (RLS)

Profiling of Parkin-binding partners using tandem affinity purification

artículo científico publicado en 2013

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

SLP-2: a potential new target for improving mitochondrial function in Parkinson's disease

artículo científico publicado en 2017

Serum iron level and kidney function: a Mendelian randomization study.

artículo científico publicado en 2017

Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study

artículo científico publicado en 2013

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

artículo científico publicado en 2018

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

artículo científico publicado en 2007

Update on the management of restless legs syndrome: existing and emerging treatment options

artículo científico publicado en 2010

Urokinase Plasminogen Activator Receptor (uPAR; CD87) Expression on Monocytic Cells and T Cells is Modulated by HIV-1 Infection ⬇️

artículo científico publicado el 1 de julio de 1998

Lista de obras de Irene Pichler

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

A genome-wide association search for type 2 diabetes genes in African Americans

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Biological, clinical and population relevance of 95 loci for blood lipids

CLOCK gene variants associate with sleep duration in two independent populations

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

Co-occurrence of restless legs syndrome andParkin mutations in two families

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance.

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).

Exome sequencing in a family with restless legs syndrome.

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes

Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene

Generation of hiPSC-Derived Functional Dopaminergic Neurons in Alginate-Based 3D Culture

Genetic determinants of circulating sphingolipid concentrations in European populations

Genetic evidence of assortative mating in humans

Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006

Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

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

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2

Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene

Linkage disequilibrium patterns and tagSNP transferability among European populations

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

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

Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD.

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease

Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells ⬇️

Parkingene modifies the effect ofRLS4on the age at onset of restless legs syndrome (RLS)

Profiling of Parkin-binding partners using tandem affinity purification

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

SLP-2: a potential new target for improving mitochondrial function in Parkinson's disease

Serum iron level and kidney function: a Mendelian randomization study.

Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

Update on the management of restless legs syndrome: existing and emerging treatment options

Urokinase Plasminogen Activator Receptor (uPAR; CD87) Expression on Monocytic Cells and T Cells is Modulated by HIV-1 Infection ⬇️