Lista de obras - Eleonora Porcu - 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 meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

artículo científico publicado en 2013

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

artículo científico publicado en 2013

Bridging the gap: metabolic and endocrine care of patients during transition

artículo científico publicado en 2016

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

artículo científico publicado en 2021

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

artículo científico publicado en 2015

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

artículo científico publicado en 2016

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

Genotype imputation in genome-wide association studies

artículo científico

Human oocyte cryopreservation in infertility and oncology

scientific article published on December 2008

Human oocyte cryopreservation with slow freezing versus vitrification. Results from the National Italian Registry data, 2007-2011.

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

artículo científico publicado en 2014

Imaging in pediatric and adolescent gynecology

artículo científico publicado en 2004

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

artículo científico publicado en 2019

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

artículo científico publicado en 2012

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

artículo científico publicado en 2016

Oocyte cryopreservation in oncological patients

artículo científico publicado en 2004

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Progress with oocyte cryopreservation

artículo científico publicado en 2006

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Reproductive aging-associated common genetic variants and the risk of breast cancer

artículo científico publicado en 2012

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

artículo científico publicado en 2010

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Lista de obras de Eleonora Porcu

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

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

Bridging the gap: metabolic and endocrine care of patients during transition

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

Defining the role of common variation in the genomic and biological architecture of adult human height

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

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

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

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

Genotype imputation in genome-wide association studies

Human oocyte cryopreservation in infertility and oncology

Human oocyte cryopreservation with slow freezing versus vitrification. Results from the National Italian Registry data, 2007-2011.

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

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

Imaging in pediatric and adolescent gynecology

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

New gene functions in megakaryopoiesis and platelet formation

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

Oocyte cryopreservation in oncological patients

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Progress with oocyte cryopreservation

Rare coding variants and X-linked loci associated with age at menarche

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

Reproductive aging-associated common genetic variants and the risk of breast cancer

Seventy-five genetic loci influencing the human red blood cell

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis