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Lista de obras de Juha Kere

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

artículo científico publicado en 1998

A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes

artículo científico publicado en 1995

A Common β2-Adrenoceptor Gene Haplotype Protects against Obesity in Swedish Women

article

A Second-Generation Association Study of the 5q31 Cytokine Gene Cluster and the Interleukin-4 Receptor in Asthma

article

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

artículo científico publicado en 2003

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele

artículo científico publicado en 2000

A common haplotype in the G-protein-coupled receptor gene GPR74 is associated with leanness and increased lipolysis

artículo científico publicado en 2007

A comprehensive analysis of the COL29A1 gene does not support a role in eczema

artículo científico publicado en 2011

A dominant gene for developmental dyslexia on chromosome 3

artículo científico publicado en 2001

A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18.

artículo científico publicado en 2013

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

artículo científico publicado en 2003

A genome-wide association scan on estrogen receptor-negative breast cancer

artículo científico publicado en 2010

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

artículo científico publicado en 2010

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

artículo científico publicado en 2013

A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families

artículo científico publicado en 2005

A large-scale, consortium-based genomewide association study of asthma

artículo científico publicado en 2010

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia

artículo científico publicado en 2007

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

artículo científico publicado en 2015

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

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 narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

artículo científico publicado en 2000

A new locus for coeliac disease mapped to chromosome 15 in a population isolate

A novel low-penetrance locus for familial glioma at 15q23-q26.3.

artículo científico publicado en 2002

A novel screening method detects herpesviral DNA in the idiopathic pulmonary fibrosis lung.

artículo científico publicado en 2011

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland

artículo científico publicado en 1999

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

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

A quality assessment survey of SNP genotyping laboratories

A rare reciprocal translocation (12;21) segregating for nine generations

artículo científico publicado en 1993

A recurrent mutation in PALB2 in Finnish cancer families.

artículo científico publicado en 2007

A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24.

artículo científico publicado en 2009

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

artículo científico publicado en 2010

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

scientific article published on 21 May 2019

AMD-associated complement factor H variant Y402H protects from streptococcal infections—Evidence from bacterial in vitro survival and human genetic association studies

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts

artículo científico publicado en 2015

Abnormalities of chromosomes 7 and 22 in human malignant pleural mesothelioma: Correlation between southern blot and cytogenetic analyses

artículo científico publicado en 1992

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

artículo científico publicado en 2006

Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis

artículo científico publicado en 2005

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

artículo científico publicado en 2011

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

artículo científico publicado en 2014

Acute bacterial, nonnecrotizing cellulitis in Finland: microbiological findings

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Age-associated DNA methylation changes in immune genes, histone modifiers and chromatin remodeling factors within 5 years after birth in human blood leukocytes

artículo científico publicado en 2015

Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

artículo científico publicado en 2013

An RGS2 3'UTR polymorphism is associated with preeclampsia in overweight women

artículo científico publicado en 2016

An atlas of active enhancers across human cell types and tissues

artículo científico publicado en 2014

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

artículo científico publicado en 2018

An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis: a population-based nested case-control study

artículo científico publicado en 2006

Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia

artículo científico publicado en 2017

Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis

artículo científico publicado en 2010

Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding

artículo científico publicado en 1997

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

artículo científico publicado en 1993

Anti-telomere antibodies in systemic lupus erythematosus (SLE): a comparison with five antinuclear antibody assays in 430 patients with SLE and other rheumatic diseases

artículo científico publicado en 2004

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

artículo científico publicado en 1999

Assessment of the neuropeptide S system in anxiety disorders

artículo científico publicado en 2010

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

artículo científico publicado en 2000

Association analysis for quantitative traits by data mining: QHPM.

artículo científico publicado en 2002

Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes

article

Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage analysis

artículo científico publicado en 2008

Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease

artículo científico publicado en 2005

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

artículo científico publicado en 2013

Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families

article

Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families

artículo científico publicado en 2004

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

artículo científico publicado en 2008

Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders

artículo científico publicado en 2000

Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts

artículo científico publicado en 2014

Associations of body size at birth with late-life cortisol concentrations and glucose tolerance are modified by haplotypes of the glucocorticoid receptor gene

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Autosomal dominant midfrequency hearing impairment.

artículo científico publicado en 2001

Azacitidine induces profound genome-wide hypomethylation in primary myelodysplastic bone marrow cultures but may also reduce histone acetylation

artículo científico publicado en 2013

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

artículo científico publicado en 2005

Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases

artículo científico publicado en 2008

Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study

artículo científico publicado en 2008

CCHCR1 is up-regulated in skin cancer and associated with EGFR expression

artículo científico publicado en 2009

CCL2 enhances pluripotency of human induced pluripotent stem cells by activating hypoxia related genes

artículo científico publicado en 2014

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

artículo científico publicado en 2017

CTNND2-a candidate gene for reading problems and mild intellectual disability

artículo científico publicado en 2014

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

article

Cationic gold nanoparticles elicit mitochondrial dysfunction: a multi-omics study

artículo científico publicado en 2019

Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Characterization of GPRA, a novel G protein-coupled receptor related to asthma

artículo científico publicado en 2005

Characterization of a common susceptibility locus for asthma-related traits

artículo científico publicado en 2004

Characterization of four human YAC libraries for clone size, chimerism and X chromosome sequence representation

artículo científico publicado en 1994

Characterization of the human RFX transcription factor family by regulatory and target gene analysis.

artículo científico publicado en 2018

Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophoresis

artículo científico publicado en 1989

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

artículo científico publicado en 1989

Chromosome 7 long-arm deletions in myeloid disorders: terminal DNA sequences are commonly conserved and breakpoints vary

artículo científico publicado en 1989

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma

artículo científico publicado en 2007

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

artículo científico publicado en 2016

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

article

Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis.

artículo científico publicado en 2007

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

artículo científico publicado en 2000

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

artículo científico publicado en 2008

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment

artículo científico publicado en 2014

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

artículo científico publicado en 1996

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

artículo científico publicado en 1998

Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene

article

Co-localization of neural cell adhesion molecule and fibroblast growth factor receptor 2 in early embryo development

scientific journal article

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

artículo científico publicado en 2002

Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium

artículo científico publicado en 2017

Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC).

artículo científico publicado en 2016

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

artículo científico publicado en 2003

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

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

Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans

artículo científico publicado en 2001

Conserved sequence-tagged sites: a phylogenetic approach to genome mapping

artículo científico publicado en 1992

Correction: Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Corrigendum: Gene expression profiling of pre-eclamptic placentae by RNA sequencing

artículo científico publicado en 2016

Craniofrontonasal dysostosis: variable expression in a three-generation family

Current knowledge of the genetics of otitis media

artículo científico

Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF.

artículo científico publicado en 1999

Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland

artículo científico publicado en 2001

Cystic fibrosis in Finland: a molecular and genealogical study

artículo científico publicado en 1989

Cystic fibrosis in a low-incidence population: two major mutations in Finland

artículo científico publicado en 1994

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate

artículo científico publicado en 1990

D.P.3.07 Welander distal myopathy: The evasive gene

article

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

artículo científico publicado en 2015

DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development.

artículo científico publicado en 2014

DNA Methylation Trajectories During Pregnancy

artículo científico publicado en 2019

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

artículo científico publicado en 2016

DNA discontinuities in the domain of amplified human MYC oncogenes

artículo científico publicado en 1991

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

artículo científico publicado en 2018

DNA methylation in the Neuropeptide S Receptor 1 (NPSR1) promoter in relation to asthma and environmental factors

artículo científico publicado en 2013

DNA methylation levels within the CD14 promoter region are lower in placentas of mothers living on a farm

artículo científico publicado en 2012

DYX1C1 functions in neuronal migration in developing neocortex

artículo científico publicado en 2006

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

artículo científico publicado en 2017

Data mining applied to linkage disequilibrium mapping

artículo científico publicado en 2000

Deletions at 14q in malignant mesothelioma detected by microsatellite marker analysis

artículo científico publicado en 1999

Delineating the Healthy Human Skin UV Response and Early Induction of Interferon Pathway in Cutaneous Lupus Erythematosus

scientific article published on 08 April 2019

Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus

artículo científico publicado en 1989

Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis

article

Differences in gene expression between mouse and human for dynamically regulated genes in early embryo

artículo científico publicado en 2014

Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility

artículo científico publicado en 2012

Differential regulation of basolateral Cl-/HCO3- exchangers SLC26A7 and AE1 in kidney outer medullary collecting duct

artículo científico publicado en 2004

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

artículo científico publicado en 2013

Differentiation of ciliated human midbrain-derived LUHMES neurons

scientific article published on 28 October 2020

Differentiation of ciliated human midbrain-derived LUHMES neurons

artículo científico publicado en 2020

Direct selection: a method for the isolation of cDNAs encoded by large genomic regions

artículo científico publicado en 1991

Discovering heritable modes of MEG spectral power

artículo científico publicado en 2019

Discovery of molecular markers to discriminate corneal endothelial cells in the human body

artículo científico publicado en 2015

Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations

artículo científico publicado en 1998

Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

artículo científico publicado en 2001

Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cells

artículo científico publicado en 2006

Distinct whole-blood transcriptome profile of children with metabolic healthy overweight/obesity compared to metabolic unhealthy overweight/obesity

artículo científico publicado en 2020

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

artículo científico publicado en 2001

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

artículo científico publicado en 2019

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

artículo científico publicado en 2013

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

artículo científico publicado en 2000

Dopamine, working memory, and training induced plasticity: implications for developmental research

artículo científico publicado en 2011

Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum

scientific journal article

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.

artículo científico publicado en 1999

Downstream target genes of the neuropeptide S-NPSR1 pathway

artículo científico publicado en 2006

Drug repositioning: a machine-learning approach through data integration

artículo científico publicado en 2013

ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis

artículo científico publicado en 2006

ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses

artículo científico publicado en 2009

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

artículo científico publicado en 1999

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein

artículo científico publicado en 2001

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion

scientific journal article

Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis

artículo científico publicado en 2006

Enhanced expression of neuropeptide S (NPS) receptor in eosinophils from severe asthmatics and subjects with total IgE above 100IU/ml

artículo científico publicado en 2013

Enrichment of rare copy number variation in children with developmental language disorder

artículo científico publicado en 2018

Epigenetic alterations in skin homing CD4+CLA+ T cells of atopic dermatitis patients

artículo científico publicado en 2020

Epigenome-Wide Meta-Analysis of Methylation in Children Related to Prenatal NO2 Air Pollution Exposure

artículo científico publicado en 2016

Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis

artículo científico publicado en 2013

Epigenome-wide meta-analysis of DNA methylation and childhood asthma

artículo científico publicado en 2018

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

artículo científico publicado en 2020

Erratum to: “Neuropeptide S receptor 1 (NPSR1) activates cancer-related pathways and is widely expressed in neuroendocrine tumors.

artículo científico publicado en 2014

Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state

artículo científico publicado en 1999

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

artículo científico publicado en 2017

European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block

artículo científico publicado en 2018

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample.

artículo científico publicado en 2007

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.

artículo científico publicado en 2006

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus

artículo científico publicado en 2009

Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity

artículo científico publicado en 2016

Evidence for two molecular steps in the pathogenesis of myeloid disorders associated with deletion of chromosome 7 long arm

article

Evidence of streptococcal origin of acute non-necrotising cellulitis: a serological study

artículo científico publicado en 2014

Evidence that the MCC-APC gene region in 5q21 is not the site for susceptibility to hereditary nonpolyposis colorectal carcinoma

artículo científico

Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome

article

Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity

artículo científico publicado en 2014

Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants

artículo científico publicado en 2016

Exposure to Traffic-Related Air Pollution and Serum Inflammatory Cytokines in Children

artículo científico publicado en 2017

Expression analysis of the NLRP gene family suggests a role in human preimplantation development

artículo científico publicado en 2008

Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.

artículo científico publicado en 2006

Expression of allograft inflammatory factor-1 in inflammatory skin disorders

artículo científico publicado en 2007

Expression of ion transport-associated proteins in human efferent and epididymal ducts

artículo científico publicado en 2007

Expression of the anhidrotic ectodermal dysplasia gene is reduced in skin cancer coinciding with reduced E-cadherin

artículo científico publicado en 1998

FANTOM5 CAGE profiles of human and mouse samples

artículo científico

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Factor V Leiden as a risk factor for preterm birth--a population-based nested case-control study.

artículo científico publicado en 2011

Factor V Leiden as risk factor for unexplained stillbirth--a population-based nested case-control study

artículo científico publicado en 2009

Factors predisposing to acute and recurrent bacterial non-necrotizing cellulitis in hospitalized patients: a prospective case-control study

artículo científico publicado en 2009

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family

artículo científico publicado en 1992

Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.

artículo científico publicado en 2002

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes

article

Familial systemic lupus erythematosus in Finland.

artículo científico publicado en 2001

Family-based association study of DYX1C1 variants in autism

artículo científico publicado en 2005

Fetal Microsatellite in the Heme Oxygenase 1 Promoter Is Associated With Severe and Early-Onset Preeclampsia

artículo científico publicado en 2017

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed

artículo científico publicado en 1996

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

artículo científico publicado en 1995

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

artículo científico publicado en 1990

Functional characterization of the promoter of the X-linked ectodermal dysplasia gene

artículo científico publicado en 1999

Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9

artículo científico publicado en 2002

Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity

artículo científico publicado en 2004

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia

artículo científico publicado en 2009

Further evidence for DYX1C1 as a susceptibility factor for dyslexia

artículo científico publicado en 2009

G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome

artículo científico publicado en 2006

GIMAP GTPase family genes: potential modifiers in autoimmune diabetes, asthma, and allergy

artículo científico publicado en 2015

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

scientific article published on 13 June 2019

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

Gene expression analysis of skin grafts and cultured keratinocytes using synthetic RNA normalization reveals insights into differentiation and growth control

artículo científico publicado en 2015

Gene expression profiling of pre-eclamptic placentae by RNA sequencing

artículo científico publicado en 2015

Gene mapping in isolated populations: new roles for old friends?

artículo científico publicado en 2000

Gene mapping with pooled samples on three genotyping platforms

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Generation of RNA sequencing libraries for transcriptome analysis of globin-rich tissues of the domestic dog ⬇️

artículo científico publicado en 2021

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

artículo científico publicado en 2012

Genetic Analysis of PSORS1 Distinguishes Guttate Psoriasis and Palmoplantar Pustulosis

article

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

artículo científico publicado en 1999

Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause

scientific article published on 01 March 2002

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

artículo científico publicado en 2013

Genetic analysis of membrane cofactor protein (CD46) of the complement system in women with and without preeclamptic pregnancies

artículo científico publicado en 2015

Genetic association and gene expression analysis identify FGFR1 as a new susceptibility gene for human obesity

scientific journal article

Genetic background and the risk of otitis media

artículo científico publicado en 2011

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

artículo científico publicado en 1998

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.

artículo científico publicado en 1997

Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease

artículo científico publicado en 2013

Genetic evidence of multiple loci in dystocia--difficult labour

artículo científico publicado en 2010

Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome

artículo científico publicado en 2001

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

scientific article published on 25 November 2020

Genetic susceptibility to non-necrotizing erysipelas/cellulitis

artículo científico publicado en 2013

Genetics of complex disorders

artículo científico publicado en 2010

Genetics of multifactorial diseases

artículo científico publicado en 2010

Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease

artículo científico publicado en 2009

Genome scan on Swedish Alzheimer's disease families.

artículo científico publicado en 2006

Genome segmentation using piecewise constant intensity models and reversible jump MCMC.

artículo científico publicado en 2002

Genome wide association study identifies KCNMA1 contributing to human obesity

artículo científico publicado en 2011

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

article

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

artículo científico publicado en 2008

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

Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene

artículo científico publicado en 2012

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

artículo científico publicado en 2019

Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.

artículo científico publicado en 2015

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

artículo científico publicado en 2020

Genome-wide linkage analysis of human auditory cortical activation suggests distinct loci on chromosomes 2, 3, and 8.

artículo científico publicado en 2012

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

artículo científico publicado en 2018

Genomic landscape of positive natural selection in Northern European populations

artículo científico publicado en 2009

Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.

artículo científico publicado en 2016

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

artículo científico publicado en 2011

Genomic structure of the human congenital chloride diarrhea (CLD) gene

artículo científico publicado en 1998

Genomic structure of the human ezrin gene

artículo científico publicado en 1998

Genomics and pediatric research

artículo científico publicado en 2003

Global analysis of uniparental disomy using high density genotyping arrays

artículo científico publicado en 2005

Globin mRNA reduction for whole-blood transcriptome sequencing

artículo científico publicado en 2016

Glucocorticoid receptor gene haplotype predicts increased risk of hospital admission for depressive disorders in the Helsinki birth cohort study

artículo científico publicado en 2011

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

scientific article published on 13 August 2019

HCR, a candidate gene for psoriasis, is expressed differently in psoriasis and other hyperproliferative skin disorders and is downregulated by interferon-gamma in keratinocytes

artículo científico publicado en 2003

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

artículo científico publicado en 2001

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

article

Haplotype associations define target regions for susceptibility loci in systemic lupus erythematosus

scholarly article by Sari Koskenmies et al published 31 March 2004 in European Journal of Human Genetics

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes

artículo científico publicado en 2005

Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma

artículo científico publicado en 2005

Healing a natural knockout of epithelial organogenesis.

artículo científico publicado en 2002

Helsinki alert of biodiversity and health

artículo científico publicado en 2015

Hemangioblastomas of the retina: impact of von Hippel-Lindau disease

artículo científico publicado en 2000

Hereditary hearing loss--the role of environmental factors

artículo científico publicado en 2000

Heterogeneity-based genome search meta-analysis for preeclampsia

artículo científico publicado en 2006

High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3

artículo científico publicado en 2021

High-specificity bioinformatics framework for epigenomic profiling of discordant twins reveals specific and shared markers for ACPA and ACPA-positive rheumatoid arthritis

artículo científico publicado en 2016

High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia

artículo científico publicado en 2015

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

artículo científico publicado en 1992

Human LUHMES and NES cells as models for studying primary cilia in neurons

artículo científico publicado en 2023

Human ROBO1 regulates interaural interaction in auditory pathways.

artículo científico publicado en 2012

Human ROBO1 regulates white matter structure in corpus callosum

artículo científico publicado en 2016

Human TIMP-3 is expressed during fetal development, hair growth cycle, and cancer progression

artículo científico publicado en 1998

Human chromosome 7: DNA sequence and biology

artículo científico publicado en 2003

Human pluripotent reprogramming with CRISPR activators.

artículo científico publicado en 2018

Human population genetics: lessons from Finland

artículo científico publicado en 2001

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

artículo científico publicado en 2017

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 15 new psoriasis susceptibility loci highlights the role of innate immunity.

artículo científico publicado en 2012

Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)

artículo científico publicado en 2009

Identification of NCAN as a candidate gene for developmental dyslexia

artículo científico

Identification of Novel Transcribed Regions in Zebrafish (Danio rerio) Using RNA-Sequencing

artículo científico publicado en 2016

Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells

artículo científico publicado en 2003

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

artículo científico publicado en 2001

In Vivo Differentiated Human Embryonic Stem Cells Can Acquire Chromosomal Aberrations More Frequently Than In Vitro During the Same Period

article

Increased YKL-40 and Chitotriosidase in Asthma and Chronic Obstructive Pulmonary Disease

artículo científico publicado en 2015

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

artículo científico publicado en 2011

Influence of FLG loss-of-function mutations in host–microbe interactions during atopic skin inflammation

Influence of male sex and parental allergic disease on childhood wheezing: role of interactions

artículo científico publicado en 2004

Influence of the COMT genotype on working memory and brain activity changes during development

artículo científico publicado en 2011

Inherited disorders of ion transport in the intestine

artículo científico publicado en 2000

Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing

artículo científico publicado en 2010

Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma

artículo científico publicado en 2013

Interaction between variants in the interleukin-4 receptor ? and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study

article

Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease

artículo científico publicado en 2008

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

artículo científico publicado en 2018

Intrachromosomal rearrangements fusing L-myc and rlf in small-cell lung cancer

artículo científico publicado en 1991

Introduction of complementary foods in infancy and atopic sensitization at the age of 5 years: timing and food diversity in a Finnish birth cohort

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample

artículo científico publicado en 2008

Investigatory and analytical approaches to differential gene expression profiling in mantle cell lymphoma.

artículo científico publicado en 2002

Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population

artículo científico publicado en 2001

Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains

artículo científico publicado en 2003

Isolation of the cystic fibrosis gene

artículo científico publicado en 1990

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

article

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

artículo científico publicado en 2017

Kidney kinetics and chloride ion pumps

Lack of association between neuropeptide S receptor 1 gene (NPSR1) and eczema in five European populations.

artículo científico publicado en 2009

Large-Scale Zygosity Testing Using Single Nucleotide Polymorphisms

article by Ulf Hannelius et al published August 2007 in Twin Research and Human Genetics

LifeGene--a large prospective population-based study of global relevance

artículo científico publicado en 2010

Linkage and linkage disequilibrium in the Finnish disease heritage

artículo científico publicado en 1994

Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci

artículo científico publicado en 2003

Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE.

artículo científico publicado en 2004

Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity

artículo científico

Long-range control of expression in yeast

artículo científico publicado en 2002

Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease.

artículo científico publicado en 1999

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

artículo científico publicado en 2018

MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction

scientific journal article

MMP12, lung function, and COPD in high-risk populations

artículo científico publicado en 2009

Mapping and identifying genes for asthma and psoriasis

artículo científico publicado en 2005

Mapping genes for asthma and psoriasis

article

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

artículo científico publicado en 1992

Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger

artículo científico publicado en 2000

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

artículo científico publicado en 2001

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

artículo científico publicado en 2001

Matrix metalloproteinase-21, the human orthologue for XMMP, is expressed during fetal development and in cancer

artículo científico publicado en 2002

Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach

artículo científico publicado en 2007

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

artículo científico publicado en 2010

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

article

Metabolic and functional changes in transgender individuals following cross-sex hormone treatment: Design and methods of the GEnder Dysphoria Treatment in Sweden (GETS) study

artículo científico publicado en 2018

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.

artículo científico publicado en 2011

Microbe-host interplay in atopic dermatitis and psoriasis

artículo científico publicado en 2019

Microbial and transcriptional differences elucidate atopic dermatitis heterogeneity across skin sites

scientific article published on 01 October 2020

Microsatellite Polymorphism in the Heme Oxygenase-1 Promoter Is Associated With Nonsevere and Late-Onset Preeclampsia

artículo científico publicado en 2014

Microsatellite diversity and the demographic history of modern humans

artículo científico publicado en 1997

Mining associations between genetic markers, phenotypes, and covariates.

artículo científico publicado en 2001

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

artículo científico publicado en 2018

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

artículo científico publicado en 2016

Molecular characterization of chromosome 7 long arm deletions in myeloid disorders

artículo científico publicado en 1987

Molecular genetic and epigenetic analysis of NCX2/SLC8A2 at 19q13.3 in human gliomas

artículo científico publicado en 2010

Molecular genetics and molecular biology of dyslexia.

artículo científico publicado en 2011

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins

artículo científico publicado en 2012

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

artículo científico publicado en 1997

Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome

scientific article published on 01 February 1988

Monosomy 7 in Granulocytes and Monocytes in Myelodysplastic Syndrome

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

article

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

artículo científico publicado en 2011

Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure

artículo científico publicado en 2004

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

artículo científico publicado en 2007

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

artículo científico publicado en 1996

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

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

article

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

artículo científico publicado en 1999

NANOG priming before full reprogramming may generate germ cell tumours

artículo científico publicado en 2011

NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements

artículo científico publicado en 2019

NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis

artículo científico publicado en 2016

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study

artículo científico publicado en 2014

Neuropeptide S (NPS) variants modify the signaling and risk effects of NPS Receptor 1 (NPSR1) variants in asthma

artículo científico publicado en 2017

Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses

artículo científico publicado en 2006

Neuropeptide S receptor 1 (NPSR1) activates cancer-related pathways and is widely expressed in neuroendocrine tumors.

artículo científico publicado en 2014

Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion

artículo científico publicado en 2009

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease

artículo científico publicado en 2007

New methods in gene mapping

artículo científico publicado en 1988

No association between the eczema genes COL29A1 and IL31 and inflammatory bowel disease

artículo científico publicado en 2009

Nocturnal asthma is affected by genetic interactions between RORA and NPSR1

artículo científico publicado en 2019

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

artículo científico publicado en 2006

Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development

artículo científico publicado en 2015

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

artículo científico publicado en 2005

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

artículo científico publicado en 2008

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

Ordered Shotgun Sequencing, a Strategy for Integrated Mapping and Sequencing of YAC Clones

Overview of the SLC26 family and associated diseases

artículo científico publicado en 2006

P.44 FV Leiden as risk factor for preterm birth – a population-based nested case-control study

article published in 2011

PPP2R1BGene in Chronic Lymphocytic Leukemias and Mantle Cell Lymphomas

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

artículo científico publicado en 1994

Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds

scientific article published on 01 July 1996

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

artículo científico publicado en 1987

PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease

artículo científico publicado en 2009

Phenotyping asthma patients for a gene mapping study in Finland

article

Phenylketonuria screening registry as a resource for population genetic studies

artículo científico publicado en 2005

Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis

artículo científico publicado en 2018

Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release

artículo científico publicado en 2003

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells

artículo científico publicado en 2007

Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG

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 in the dopamine receptor 2 gene region influence improvements during working memory training in children and adolescents

artículo científico publicado en 2013

Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Pool-seq driven proteogenomic database for Group G Streptococcus

scientific article published on 20 April 2019

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis

artículo científico publicado en 2009

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs

artículo científico publicado en 2008

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

article

Positionally cloned susceptibility genes in allergy and asthma

artículo científico publicado en 2004

Predictors of recurrent cellulitis in five years. Clinical risk factors and the role of PTX3 and CRP.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes

artículo científico publicado en 2016

Prenatal Particulate Air Pollution and DNA Methylation in Newborns: An Epigenome-Wide Meta-Analysis

artículo científico publicado en 2019

Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis

artículo científico publicado en 1987

Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

artículo científico publicado en 2024

Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

artículo científico publicado en 2023

Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population

artículo científico publicado en 2017

Psoriasis Susceptibility Locus on 18p Revealed by Genome Scan in Finnish Families Not Associated with PSORS1

ROCK2 allelic variants are not associated with pre-eclampsia susceptibility in the Finnish population

artículo científico publicado en 2009

Recurrent DNA sequence copy losses on chromosomal arm 6q in capillary hemangioblastoma

artículo científico publicado en 2002

Recurrent cellulitis with benzathine penicillin prophylaxis is associated with diabetes and psoriasis

article

Reduced CDHR3 expression in children wheezing with rhinovirus

artículo científico publicado en 2018

Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping

artículo científico publicado en 1991

Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion

scientific journal article

Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European population

artículo científico

Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks

artículo científico publicado en 2011

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

artículo científico publicado en 2008

Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

artículo científico publicado en 2014

Rule-based models of the interplay between genetic and environmental factors in childhood allergy

artículo científico publicado en 2013

SAMstrt: statistical test for differential expression in single-cell transcriptome with spike-in normalization

artículo científico publicado en 2013

SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types

artículo científico publicado en 2001

SLC26A3 mutations in congenital chloride diarrhea

artículo científico publicado en 2002

SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney

artículo científico publicado en 2005

SLC26A7: a basolateral Cl-/HCO3- exchanger specific to intercalated cells of the outer medullary collecting duct

artículo científico publicado en 2004

SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.

artículo científico publicado en 2011

Screening for defined cystic fibrosis mutations by solid-phase minisequencing ⬇️

artículo científico publicado el 1 de enero de 1992

Sequence analysis of pooled bacterial samples enables identification of strain variation in group A streptococcus

artículo científico publicado en 2017

Sequencing of breast cancer stem cell populations indicates a dynamic conversion between differentiation states in vivo

artículo científico publicado en 2014

Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation

artículo científico publicado en 2004

Simplified template preparation and improved direct sequencing using Taq polymerase

artículo científico publicado el 1 de mayo de 1992

Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63

article

Single-cell analysis of human ovarian cortex identifies distinct cell populations but no oogonial stem cells

artículo científico publicado en 2020

Single-cell transcriptome analysis of endometrial tissue.

artículo científico publicado en 2016

SkewC: Identifying cells with skewed gene body coverage in single-cell RNA sequencing data

artículo científico publicado en 2022

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations

artículo científico publicado en 2005

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

artículo científico publicado en 1996

Stromelysin-2 is Upregulated During Normal Wound Repair and is Induced by Cytokines

Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia

artículo científico publicado en 2005

Structure of the human CCG1 gene: relationship between the exons/introns and functional domain/modules of the protein

artículo científico publicado en 1994

Study of estrogen receptor-α and receptor-β gene polymorphisms on Alzheimer's disease.

artículo científico publicado en 2011

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

scientific article published on 14 September 2009

Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes

artículo científico publicado en 2006

Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families

artículo científico publicado en 2002

Swedish population substructure revealed by genome-wide single nucleotide polymorphism data

artículo científico publicado en 2011

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

artículo científico publicado en 2018

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

artículo científico publicado en 2016

The CCHCR1 (HCR) gene is relevant for skin steroidogenesis and downregulated in cultured psoriatic keratinocytes

artículo científico publicado en 2007

The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects

artículo científico publicado en 2005

The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility.

artículo científico publicado en 2016

The IL9R region contribution in asthma is supported by genetic association in an isolated population

artículo científico publicado en 2000

The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice

artículo científico publicado en 2008

The Psoriasis Risk Allele HLA-C*06:02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis

artículo científico publicado en 2018

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

artículo científico publicado en 2014

The SNAP25 gene is linked to working memory capacity and maturation of the posterior cingulate cortex during childhood

artículo científico publicado en 2010

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

artículo científico publicado en 1997

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

scientific journal article

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language

artículo científico publicado en 2012

The association of antibodies to cardiolipin, beta 2-glycoprotein I, prothrombin, and oxidized low-density lipoprotein with thrombosis in 292 patients with familial and sporadic systemic lupus erythematosus

artículo científico publicado en 2004

The asthma candidate gene NPSR1 mediates isoform specific downstream signalling

artículo científico publicado en 2011

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

artículo científico publicado en 2005

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

artículo científico publicado en 2008

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

article

The diagnosis of pre-eclampsia using two revised classifications in the Finnish Pre-eclampsia Consortium (FINNPEC) cohort

artículo científico publicado en 2016

The dyslexia candidate gene DYX1C1 is a potential marker of poor survival in breast cancer

artículo científico publicado en 2012

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

artículo científico publicado en 2012

The effects of the ACE gene insertion/deletion polymorphism on glucose tolerance and insulin secretion in elderly people are modified by birth weight

artículo científico publicado en 2004

The emerging landscape of dynamic DNA methylation in early childhood

artículo científico publicado en 2017

The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone

artículo científico publicado en 1998

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

artículo científico publicado en 1993

The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus

artículo científico publicado en 2007

The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation

artículo científico publicado en 2016

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 impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

article by Satu Wedenoja et al published October 2008 in Kidney International

The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype

artículo científico publicado en 2014

The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins

article

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

article

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

artículo científico publicado en 2008

The pruritus- and TH2-associated cytokine IL-31 promotes growth of sensory nerves

artículo científico publicado en 2016

The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus

article

The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation

artículo científico publicado en 2012

The use of genotyping as a first step in molecular diagnosis of familial hypercholesterolemia

The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function

artículo científico publicado en 2013

The zebrafish transcriptome during early development

artículo científico publicado en 2011

Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.

artículo científico publicado en 2012

Timing of infant feeding in relation to childhood asthma and allergic diseases

artículo científico publicado en 2012

Toxicogenomic Profiling of 28 Nanomaterials in Mouse Airways

artículo científico publicado en 2021

Transcriptome analysis of controlled and therapy-resistant childhood asthma reveals distinct gene expression profiles.

artículo científico publicado en 2015

Transcriptome analysis reveals upregulation of bitter taste receptors in severe asthmatics

artículo científico publicado en 2012

Transcriptome profiling of human pre-implantation development

artículo científico publicado en 2009

Transgenic mouse models support HCR as an effector gene in the PSORS1 locus

artículo científico publicado en 2004

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

artículo científico publicado en 1997

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations

artículo científico publicado en 2007

Two functional variants of the superoxide dismutase genes in Finnish families with asthma

artículo científico publicado en 2004

Two translocations of chromosome 15q associated with dyslexia

artículo científico publicado en 2000

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

artículo científico publicado en 2009

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance

artículo científico publicado en 2013

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

scientific article published on 01 September 2001

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

artículo científico publicado en 2017

Update on SLC26A3 mutations in congenital chloride diarrhea

artículo científico publicado en 2011

Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis

article

Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma

artículo científico publicado en 2015

Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma

artículo científico publicado en 2006

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

artículo científico publicado en 2009

Verification of self-reported asthma and allergy in subjects and their family members volunteering for gene mapping studies

article

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

artículo científico publicado en 2013

Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.

artículo científico publicado en 2016

Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development

artículo científico publicado en 2012

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

artículo científico publicado en 1997

X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies.

artículo científico publicado en 2015

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

artículo científico publicado en 1996

Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28.

artículo científico publicado en 1991

[About the effect of HUGO (Human Genome Project)]

artículo científico publicado en 1996

[Congenital chloride diarrhea gene error in the anion transporter protein]

artículo científico publicado en 1999

[Current status of the human genome project]

artículo científico publicado en 1993

[Genetics of asthma and atopy--how to interpret results from the candidate gene studies?]

artículo científico publicado en 2000

[Genome research in year 2000]

artículo científico publicado en 2000

[Keys to our fate in genetic testing?]

artículo científico publicado en 2000

[The gene behind asthma has been found--or has it?]

artículo científico publicado en 2002

[The pathogenesis of psoriasis--investigating the genetics of a multifactorial disease]

artículo científico publicado en 2003

alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action

artículo científico publicado en 2004

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