Lista de obras - Andrea Angius - Dominio Público Uruguay

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

artículo científico publicado en 2003

A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer

artículo científico publicado en 2021

A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.

artículo científico publicado en 2004

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

artículo científico publicado en 2016

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

artículo científico publicado en 2013

A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case

artículo científico publicado en 2000

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders

artículo científico publicado en 1998

An integrated map of genetic variation from 1,092 human genomes

artículo científico publicado en 2012

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.

artículo científico publicado en 2001

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

artículo científico publicado en 2015

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

artículo científico publicado en 2014

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

scientific journal article

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

artículo científico publicado en 2018

Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene

artículo científico publicado en 2004

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

artículo científico publicado en 2015

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

artículo científico publicado en 2014

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

artículo científico publicado en 2014

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A.

artículo científico publicado en 2015

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

scientific article published on 08 February 2019

Convergent analysis of genome-wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder

article

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

artículo científico publicado en 2015

DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy.

artículo científico publicado en 2016

Deep genomic analysis of the <i>Chlorella sorokiniana</i> SAG 211-8k chloroplast

artículo científico publicado en 2017

Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample

artículo científico publicado en 2015

EDA2R is associated with androgenetic alopecia.

artículo científico publicado en 2008

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

artículo científico publicado en 1998

Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.

artículo científico publicado en 2013

Epigenetics, Stem Cells, and Autophagy: Exploring a Path Involving miRNA

artículo científico publicado en 2019

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

scientific article published on 28 March 2019

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

artículo científico publicado en 2014

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations

scientific article published on 12 November 2003

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population ⬇️

artículo científico publicado el 1 de enero de 1998

Genetic variants regulating immune cell levels in health and disease.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Genomic history of the Sardinian population

scientific article published on 17 September 2018

Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease

artículo científico publicado en 2015

Height-reducing variants and selection for short stature in Sardinia

artículo científico publicado en 2015

High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates

article

High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis

artículo científico publicado en 2009

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

artículo científico publicado en 2014

Identification of a new candidate locus for uric acid nephrolithiasis

artículo científico publicado en 2001

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

scientific article published on 01 October 1994

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

scientific article published on 20 August 2019

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

artículo científico publicado en 2014

Integrative annotation of variants from 1092 humans: application to cancer genomics

artículo científico publicado en 2013

Involvement of core clock genes in lithium response

artículo científico publicado en 2017

Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma

artículo científico publicado en 2020

Loss of mismatched HLA in leukemia after stem-cell transplantation.

artículo científico publicado en 2009

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

Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.

artículo científico publicado en 2005

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Modulatory Role of microRNAs in Triple Negative Breast Cancer with Basal-Like Phenotype

scientific article published on 07 November 2020

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

article

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

article

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

artículo científico publicado en 2018

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

artículo científico publicado en 2001

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

artículo científico publicado en 2016

Overexpression of the Cytokine BAFF and Autoimmunity Risk

artículo científico publicado en 2017

Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies

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

artículo científico publicado en 2014

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

scientific article published on 04 September 2019

Population- and individual-specific regulatory variation in Sardinia.

artículo científico publicado en 2017

Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

artículo científico publicado en 2015

Prognostic Impact of Membranous/Nuclear Epidermal Growth Factor Receptor Localization in Clear Cell Renal Cell Carcinoma

artículo científico publicado en 2021

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

artículo científico publicado en 2014

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction.

artículo científico publicado en 2017

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

artículo científico publicado en 2003

The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.

artículo científico publicado en 1998

The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

scientific article published on 24 July 2018

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

artículo científico publicado en 2013

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Whole-Genome Sequence of Listeria monocytogenes Serovar 4b Strain IZSAM_Lm_hs2008, Isolated from a Human Infection in Italy

artículo científico publicado en 2015

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

artículo científico publicado en 1996

miRNA-135b Contributes to Triple Negative Breast Cancer Molecular Heterogeneity: Different Expression Profile in Basal-like Versus non-Basal-like Phenotypes.

artículo científico publicado en 2018

Lista de obras de Andrea Angius

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer

A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case

A reference panel of 64,976 haplotypes for genotype imputation

A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders

An integrated map of genetic variation from 1,092 human genomes

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Convergent analysis of genome-wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy.

Deep genomic analysis of the <i>Chlorella sorokiniana</i> SAG 211-8k chloroplast

Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample

EDA2R is associated with androgenetic alopecia.

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.

Epigenetics, Stem Cells, and Autophagy: Exploring a Path Involving miRNA

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population ⬇️

Genetic variants regulating immune cell levels in health and disease.

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

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

Genomic history of the Sardinian population

Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease

Height-reducing variants and selection for short stature in Sardinia

High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates

High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

Identification of a new candidate locus for uric acid nephrolithiasis

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Integrative annotation of variants from 1092 humans: application to cancer genomics

Involvement of core clock genes in lithium response

Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma

Loss of mismatched HLA in leukemia after stem-cell transplantation.

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

Methylenetetrahydrofolate reductase gene polymorphisms in Burkina Faso.

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

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

Modulatory Role of microRNAs in Triple Negative Breast Cancer with Basal-Like Phenotype

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies

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

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Population- and individual-specific regulatory variation in Sardinia.

Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

Prognostic Impact of Membranous/Nuclear Epidermal Growth Factor Receptor Localization in Clear Cell Renal Cell Carcinoma

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

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction.

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.

The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Whole-Genome Sequence of Listeria monocytogenes Serovar 4b Strain IZSAM_Lm_hs2008, Isolated from a Human Infection in Italy

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

miRNA-135b Contributes to Triple Negative Breast Cancer Molecular Heterogeneity: Different Expression Profile in Basal-like Versus non-Basal-like Phenotypes.