Lista de obras - Janna Saarela - Dominio Público Uruguay

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

artículo científico publicado en 2020

A Role for VAV1 in Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis

artículo científico publicado en 2009

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

artículo científico publicado en 2012

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

scientific journal article

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.

artículo científico publicado en 2019

A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis

A quality assessment survey of SNP genotyping laboratories

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

artículo científico publicado en 2009

A two-stage study on multiple sclerosis susceptibility and chromosome 2q33

article

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

artículo científico publicado en 2018

Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

artículo científico publicado en 2010

An immune response network associated with blood lipid levels

artículo científico publicado en 2010

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Are data from different gene expression microarray platforms comparable?

artículo científico publicado en 2004

Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations

artículo científico publicado en 2006

Association study of MMP8 gene in osteoarthritis

artículo científico publicado en 2015

Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing

artículo científico publicado en 2009

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

artículo científico publicado en 2014

Candidate Gene Association Study of Magnetic Resonance Imaging-based Hip Osteoarthritis (OA): Evidence for COL9A2 Gene as a Common Predisposing Factor for Hip OA and Lumbar Disc Degeneration

article

Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study

artículo científico publicado en 2002

Class II HLA interactions modulate genetic risk for multiple sclerosis

artículo científico publicado en 2015

Collagen XVIII is localized in sinusoids and basement membrane zones and expressed by hepatocytes and activated stellate cells in fibrotic human liver ⬇️

artículo científico publicado el 1 de julio de 1998

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

artículo científico publicado el 1 de noviembre de 2003

Comparison of solution-based exome capture methods for next generation sequencing

artículo científico publicado en 2011

Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

artículo científico publicado en 1998

Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up

artículo científico publicado en 2016

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

artículo científico publicado en 2016

DNA extraction yield is associated with several phenotypic characteristics: results from two large population surveys

artículo científico publicado en 2004

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

artículo científico publicado en 2017

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

artículo científico publicado en 2013

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

artículo científico publicado en 2015

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

artículo científico publicado en 2002

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

artículo científico publicado en 2016

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result

artículo científico publicado en 2014

Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield

artículo científico publicado en 2005

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

artículo científico publicado en 2004

Finding disease candidate genes by liquid association

artículo científico publicado en 2007

Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24

artículo científico publicado en 2002

Fine mapping of the multiple sclerosis susceptibility locus on 5p14–p12

artículo científico publicado en 2005

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

artículo científico publicado en 2014

Gender differences in genetic risk profiles for cardiovascular disease

artículo científico publicado en 2008

Gene expression patterns in a rodent model for depression

artículo científico

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

article

Genetic background of extreme violent behavior

artículo científico publicado en 2014

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic similarity of chromosome 6 between patients receiving hematopoietic stem cell transplantation and HLA matched sibling donors

artículo científico publicado en 2009

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

artículo científico publicado en 2010

Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide

artículo científico publicado en 2013

Germline alterations in a consecutive series of acute myeloid leukemia

artículo científico publicado en 2018

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

artículo científico publicado en 2018

Hematopoietic stem cell transplantation rescues the hematological, immunological and vascular phenotype in DADA2.

artículo científico publicado en 2017

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

scientific article published on 25 November 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

scientific article published on 16 September 2020

High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes

artículo científico publicado en 2008

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

artículo científico publicado en 2012

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

artículo científico publicado en 2008

Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

article

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

artículo científico publicado en 2010

Low frequency and rare coding variation contributes to multiple sclerosis risk

Lymphatic endothelial reprogramming of vascular endothelial cells by the Prox-1 homeobox transcription factor

artículo científico publicado en 2002

MYO9B polymorphisms in multiple sclerosis

artículo científico publicado en 2009

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

artículo científico publicado en 2010

Multippeliskleroosi--geenitutkimus apuna taudin biologisen palapelin kokoamisessa

No evidence for shared etiology in two demyelinative disorders, MS and PLOSL

artículo científico publicado en 2008

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

artículo científico publicado en 2019

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

PRKCA and multiple sclerosis: association in two independent populations

artículo científico publicado en 2006

Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs

artículo científico publicado en 2015

Possible association of interleukin 1 gene locus polymorphisms with low back pain.

artículo científico publicado en 2004

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

scholarly article by Nina Mononen et al published 15 January 2006 in Cancer Research

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

artículo científico publicado en 2006

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

scientific article published on 06 May 2019

Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

scientific article published on 15 July 2004

Single nucleotide polymorphism microarray analysis of karyotypically normal acute myeloid leukemia reveals frequent copy number neutral loss of heterozygosity

artículo científico publicado en 2008

Somatic STAT3 mutations in large granular lymphocytic leukemia ⬇️

artículo científico publicado en 2012

Somatic mutations and T-cell clonality in patients with immunodeficiency

artículo científico publicado en 2019

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

artículo científico publicado en 2017

Stimulating translational research: several European life science institutions put their heads together

artículo científico publicado en 2015

Systematic review of genome-wide expression studies in multiple sclerosis

artículo científico publicado en 2011

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The SH2D2A gene and susceptibility to multiple sclerosis

artículo científico publicado en 2008

The Twin Spine Study: contributions to a changing view of disc degeneration

artículo científico publicado en 2009

The role of the CD58 locus in multiple sclerosis

artículo científico publicado en 2009

The short and long forms of type XVIII collagen show clear tissue specificities in their expression and location in basement membrane zones in humans

artículo científico publicado en 1998

USF1 and dyslipidemias: converging evidence for a functional intronic variant

artículo científico publicado en 2005

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

artículo científico publicado en 2017

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

artículo científico publicado en 2009

Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis

Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield

artículo científico publicado en 2008

mtDNA nt13708A variant increases the risk of multiple sclerosis

artículo científico publicado en 2008

Lista de obras de Janna Saarela

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

A Role for VAV1 in Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.

A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis

A quality assessment survey of SNP genotyping laboratories

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

A two-stage study on multiple sclerosis susceptibility and chromosome 2q33

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

An immune response network associated with blood lipid levels

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Are data from different gene expression microarray platforms comparable?

Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations

Association study of MMP8 gene in osteoarthritis

Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

Candidate Gene Association Study of Magnetic Resonance Imaging-based Hip Osteoarthritis (OA): Evidence for COL9A2 Gene as a Common Predisposing Factor for Hip OA and Lumbar Disc Degeneration

Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study

Class II HLA interactions modulate genetic risk for multiple sclerosis

Collagen XVIII is localized in sinusoids and basement membrane zones and expressed by hepatocytes and activated stellate cells in fibrotic human liver ⬇️

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

Comparison of solution-based exome capture methods for next generation sequencing

Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

DNA extraction yield is associated with several phenotypic characteristics: results from two large population surveys

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result

Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

Finding disease candidate genes by liquid association

Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24

Fine mapping of the multiple sclerosis susceptibility locus on 5p14–p12

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

Gender differences in genetic risk profiles for cardiovascular disease

Gene expression patterns in a rodent model for depression

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

Genetic background of extreme violent behavior

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genetic similarity of chromosome 6 between patients receiving hematopoietic stem cell transplantation and HLA matched sibling donors

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide

Germline alterations in a consecutive series of acute myeloid leukemia

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Hematopoietic stem cell transplantation rescues the hematological, immunological and vascular phenotype in DADA2.

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

Low frequency and rare coding variation contributes to multiple sclerosis risk

Lymphatic endothelial reprogramming of vascular endothelial cells by the Prox-1 homeobox transcription factor

MYO9B polymorphisms in multiple sclerosis

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

Multippeliskleroosi--geenitutkimus apuna taudin biologisen palapelin kokoamisessa

No evidence for shared etiology in two demyelinative disorders, MS and PLOSL

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

PRKCA and multiple sclerosis: association in two independent populations

Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs

Possible association of interleukin 1 gene locus polymorphisms with low back pain.

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

Single nucleotide polymorphism microarray analysis of karyotypically normal acute myeloid leukemia reveals frequent copy number neutral loss of heterozygosity

Somatic STAT3 mutations in large granular lymphocytic leukemia ⬇️

Somatic mutations and T-cell clonality in patients with immunodeficiency

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.