Lista de obras - Magdalena Zoledziewska - Dominio Público Uruguay

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

artículo científico publicado en 2012

A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes

scholarly article by Fabrice Danjou published in November 2016

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

artículo científico publicado en 2015

A new mouse model for human immune system-related translational studies

artículo científico publicado en 2020

Allelic variant in CTLA4 is associated with thyroid failure and faster β-cell exhaustion in latent autoimmune diabetes in adults.

artículo científico publicado en 2015

Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 18 September 2020

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study

artículo científico publicado en 2017

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 14 September 2020

Discovery of novel heart rate-associated loci using the Exome Chip

artículo científico publicado en 2017

Exome-wide association study of plasma lipids in >300,000 individuals

artículo científico publicado en 2017

Gender determination in highly degraded DNA samples

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

artículo científico publicado en 2008

Genetics of Neonatal Hypoglycaemia

artículo científico publicado en 2020

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

artículo científico publicado en 2018

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

artículo científico publicado en 2015

Genome-Wide Analysis Studies and Chronic Kidney Disease

artículo científico publicado en 2017

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

artículo científico publicado en 2015

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

artículo científico publicado en 2015

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

Height-reducing variants and selection for short stature in Sardinia

artículo científico publicado en 2015

Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population

artículo científico publicado en 2020

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

artículo científico publicado en 2013

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

artículo científico publicado en 2015

Methods for association analysis and meta-analysis of rare variants in families

artículo científico publicado en 2015

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

artículo científico publicado en 2017

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

artículo científico publicado en 2016

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

artículo científico publicado en 2014

SNP-genotyping on human Y-chromosome for forensic purposes: comparison of two different methods

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis

artículo científico publicado en 2005

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

artículo científico publicado en 2016

The burden of multiple sclerosis variants in continental Italians and Sardinians

artículo científico publicado en 2015

The dependence of serum interleukin-6 level on PPAR-alpha polymorphism in men with coronary atherosclerosis

artículo científico publicado en 2005

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

artículo científico publicado en 2020

Three points detection of short fragments derived from the amelogenin gene for gender determination—new possibilities for the capillary electrophoresis system

article

Ultimate shortening of the PCR product in the STR system TH01—a new perspective in testing of degraded forensic samples

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Lista de obras de Magdalena Zoledziewska

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

A new mouse model for human immune system-related translational studies

Allelic variant in CTLA4 is associated with thyroid failure and faster β-cell exhaustion in latent autoimmune diabetes in adults.

Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Discovery of novel heart rate-associated loci using the Exome Chip

Exome-wide association study of plasma lipids in >300,000 individuals

Gender determination in highly degraded DNA samples

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

Genetics of Neonatal Hypoglycaemia

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Genome-Wide Analysis Studies and Chronic Kidney Disease

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

Height-reducing variants and selection for short stature in Sardinia

Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Methods for association analysis and meta-analysis of rare variants in families

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

SNP-genotyping on human Y-chromosome for forensic purposes: comparison of two different methods

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

The burden of multiple sclerosis variants in continental Italians and Sardinians

The dependence of serum interleukin-6 level on PPAR-alpha polymorphism in men with coronary atherosclerosis

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Three points detection of short fragments derived from the amelogenin gene for gender determination—new possibilities for the capillary electrophoresis system

Ultimate shortening of the PCR product in the STR system TH01—a new perspective in testing of degraded forensic samples

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis