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Authors whose works are in public domain in at least one jurisdiction

List of works by Maristella Pitzalis

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

scientific article published on 20 November 2020

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

scientific article

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

scientific article published on 6 January 2012

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

scientific article published in January 2015

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

scientific article

Genetic variants regulating immune cell levels in health and disease.

scientific article published on September 2013

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

scientific article

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

scientific article

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

scientific article (publication date: 2012)

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

scientific article published on 10 May 2015

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

scientific article

No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population

scientific article published in July 2004

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

scientific article published on 17 June 2016

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe

scientific article (publication date: May 2014)

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

scientific article published on 8 October 2014

T-cell receptor repertoire analysis in monozygotic twins concordant and discordant for type 1 diabetes

scientific article published on 4 January 2012

TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population

scientific article published on 17 September 2011

The burden of multiple sclerosis variants in continental Italians and Sardinians

scientific article published on October 2015

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.

scientific article

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