Lista de obras - Elisabet Einarsdottir - Dominio Público Uruguay

A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11

artículo científico publicado en 2017

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

artículo científico publicado en 2018

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis

artículo científico publicado en 2019

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

artículo científico publicado en 2004

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects

scientific article published on 01 May 2019

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

ABO Genotype and Blood Type Are Associated with Otitis Media

scientific article published on 01 November 2019

Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth

artículo científico publicado en 2017

Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication

scientific article published on 23 January 2020

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

artículo científico publicado en 2018

Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.

artículo científico publicado en 2008

Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

artículo científico publicado en 2012

Association study of the IL18RAP locus in three European populations with coeliac disease

artículo científico publicado en 2008

Association study ofFUT2(rs601338) with celiac disease and inflammatory bowel disease in the Finnish population

scientific article published on 18 October 2012

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

artículo científico publicado en 2017

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis

article

Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

artículo científico publicado en 2016

Comprehensive mapping of the effects of azacitidine on DNA methylation, repressive/permissive histone marks and gene expression in primary cells from patients with MDS and MDS-related disease

artículo científico publicado en 2017

Corrigendum: Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

artículo científico publicado en 2016

Current knowledge of the genetics of otitis media

artículo científico

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

artículo científico publicado en 2017

Estrogen receptor β, a regulator of androgen receptor signaling in the mouse ventral prostate

artículo científico publicado en 2017

Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations

artículo científico publicado en 2009

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

scientific article published on 13 June 2019

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

artículo científico publicado en 2016

Genetics and pathogenesis of idiopathic scoliosis

artículo científico publicado en 2016

Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk

article

Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion

artículo científico publicado en 2016

Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods

scientific article published on 13 August 2019

Homozygosity mapping of familial glioma in Northern Sweden.

artículo científico publicado en 2005

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

artículo científico publicado en 2009

Identification of NCAN as a candidate gene for developmental dyslexia

artículo científico

Influence of female hormonal factors, in relation to autoantibodies and genetic markers, on the development of rheumatoid arthritis in northern Sweden: a case-control study.

artículo científico publicado en 2010

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

artículo científico publicado en 2016

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation

artículo científico publicado en 2017

Linkage and association study of FcγR polymorphisms in celiac disease

artículo científico publicado en 2009

Linkage but Not Association of Calpain-10 to Type 2 Diabetes Replicated in Northern Sweden

scientific article published on 01 June 2006

Localization of a susceptibility gene for common forms of stroke to 5q12

artículo científico publicado en 2002

MANF protects human pancreatic beta cells against stress-induced cell death

artículo científico publicado en 2018

Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients

artículo científico publicado en 2012

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

artículo científico publicado en 2018

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

artículo científico publicado en 2011

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family

artículo científico publicado en 2015

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

article

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

artículo científico publicado en 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

artículo científico publicado en 2019

Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition

artículo científico publicado en 2017

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

scientific article published on 25 February 2020

Pleomorphic Adenoma Gene 1 Is Needed For Timely Zygotic Genome Activation and Early Embryo Development.

artículo científico publicado en 2019

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

artículo científico publicado en 2015

Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus

artículo científico publicado en 2010

Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus

artículo científico publicado en 2015

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

artículo científico publicado en 2020

Single-cell transcriptome analysis of endometrial tissue.

artículo científico publicado en 2016

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

artículo científico publicado en 2016

The CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease

article

The genetic population structure of northern Sweden and its implications for mapping genetic diseases

artículo científico publicado en 2007

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

scientific article published on 24 September 2019

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency.

artículo científico publicado en 2008

Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus

artículo científico publicado en 2009

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

artículo científico publicado en 2017

Lista de obras de Elisabet Einarsdottir

A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

ABO Genotype and Blood Type Are Associated with Otitis Media

Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth

Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.

Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

Association study of the IL18RAP locus in three European populations with coeliac disease

Association study ofFUT2(rs601338) with celiac disease and inflammatory bowel disease in the Finnish population

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis

Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

Comprehensive mapping of the effects of azacitidine on DNA methylation, repressive/permissive histone marks and gene expression in primary cells from patients with MDS and MDS-related disease

Corrigendum: Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

Current knowledge of the genetics of otitis media

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Estrogen receptor β, a regulator of androgen receptor signaling in the mouse ventral prostate

Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

Genetics and pathogenesis of idiopathic scoliosis

Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk

Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion

Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods

Homozygosity mapping of familial glioma in Northern Sweden.

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

Identification of NCAN as a candidate gene for developmental dyslexia

Influence of female hormonal factors, in relation to autoantibodies and genetic markers, on the development of rheumatoid arthritis in northern Sweden: a case-control study.

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation

Linkage and association study of FcγR polymorphisms in celiac disease

Linkage but Not Association of Calpain-10 to Type 2 Diabetes Replicated in Northern Sweden

Localization of a susceptibility gene for common forms of stroke to 5q12

MANF protects human pancreatic beta cells against stress-induced cell death

Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

Pleomorphic Adenoma Gene 1 Is Needed For Timely Zygotic Genome Activation and Early Embryo Development.

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus

Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

Single-cell transcriptome analysis of endometrial tissue.

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

The CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease

The genetic population structure of northern Sweden and its implications for mapping genetic diseases

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency.

Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland