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List of works by Leena Peltonen-Palotie

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

A Pooled Genome-Wide Association Study of Asperger Syndrome

scientific article published on 15 July 2015

A Two-Base Deletion –439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset Obesity

scientific article published on 19 May 2006

A blood pressure genetic risk score is a significant predictor of incident cardiovascular events in 32,669 individuals

scientific article published on 18 March 2013

A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster

scientific article

A combined analysis of genome-wide association studies in breast cancer

scientific article published on 26 September 2010

A common variant near the KCNJ2 gene is associated with T-peak to T-end interval

scientific article published on 15 February 2012

A common variant of HMGA2 is associated with adult and childhood height in the general population

scientific article

A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility

scientific article published on 04 February 2009

A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

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

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

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

scientific article

A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol

scientific article

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

scientific article

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27

scientific article

A high-density association screen of 155 ion transport genes for involvement with common migraine

scientific article

A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia

scientific article

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

scientific journal article

A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses

scientific article

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase

scientific article published on October 2004

A population-specific HTR2B stop codon predisposes to severe impulsivity

scientific article

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

A susceptibility locus for migraine with aura, on chromosome 4q24.

scientific article published on 08 February 2002

A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure

scientific article

ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis

scientific article

ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2.

scientific article published in December 2007

AIRE regulates T-cell-independent B-cell responses through BAFF.

scholarly article

AUTOGSCAN: Powerful Tools for Automated Genome-Wide Linkage and Linkage Disequilibrium Analysis

article

AUTOGSCAN: powerful tools for automated genome-wide linkage and linkage disequilibrium analysis

scientific article published in February 2005

Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity

scientific article published on 6 May 2008

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

scientific article (publication date: 15 February 2002)

Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients.

scientific article

Aire regulates negative selection of organ-specific T cells

scientific article (publication date: April 2003)

All out for chromosome six

scientific article published in Nature

Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An association analysis of circadian genes in anxiety disorders

scientific article published in February 2010

An association analysis of murine anxiety genes in humans implicates novel candidate genes for anxiety disorders

scientific article

An evolutionary genomic approach to identify genes involved in human birth timing

scientific article

An immune response network associated with blood lipid levels

scientific article

Assessment of the neuropeptide S system in anxiety disorders

scientific article published in September 2010

Association analysis of allelic variants of USF1 in coronary atherosclerosis

scientific article published on 14 February 2008

Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses

scientific article published on 28 February 2009

Association between the type 4 dopamine receptor gene polymorphism and novelty seeking

scientific article published in May 2003

Association of AKT1 with verbal learning, verbal memory, and regional cortical gray matter density in twins

scientific article published on July 2009

Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory

scientific article published in November 2005

Association of Known Loci With Lipid Levels Among Children and Prediction of Dyslipidemia in Adults

Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample

scientific article published on 07 May 2008

Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure

scientific article published on 15 February 2009

Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments

scientific article published on 2 August 2007

Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.

scientific article published on 23 July 2009

Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder

scientific article published on December 2008

Association of variants in DISC1 with psychosis-related traits in a large population cohort

scientific article

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

scientific article published in February 2009

At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia

scientific article published on 16 March 2011

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen

scientific article

Autoproteolytic activation of human aspartylglucosaminidase ⬇️

scientific article published on March 1, 2004

Biobanking for Europe

scientific article

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

scientific article

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

Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area

scientific article

Childhood Social Environment Questionnaire

article published in 2010

Childhood adversities are associated with shorter telomere length at adult age both in individuals with an anxiety disorder and controls

scientific article

Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference

scientific article published on 3 December 2002

Classical twin studies and beyond

scientific article

Combined Effects of Thrombosis Pathway Gene Variants Predict Cardiovascular Events

article

Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q

scientific article

Combined effects of thrombosis pathway gene variants predict cardiovascular events

scientific article

Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci

scientific article

Combined genome scans for body stature in 6602 European twins: evidence for common Caucasian loci

Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL.

scientific article

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

scientific article

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

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

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

scientific article published on 26 July 2011

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants conferring risk of schizophrenia

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

scientific article published on 30 January 2009

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

scientific article published on November 1, 2003

Comprehensive catalog of European biobanks

scientific article published on 8 September 2011

Consistently replicating locus linked to migraine on 10q22-q23

scientific article published on May 2008

Correction: Genetic Structure of Europeans: A View from the North–East.

scientific article

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy

article

Correlation of intestinal disaccharidase activities with the C/T-13910 variant and age

scientific article

Critical immunological pathways are downregulated in APECED patient dendritic cells

scientific article published on 04 July 2008

Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism

scientific article

DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features

scientific article

Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.

scientific article published in March 2005

Data on schizotypy and affective scales are gender and education dependent--study in the Northern Finland 1966 Birth Cohort

scientific article

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

scientific article published on 04 August 2013

Disruption of the neurexin 1 gene is associated with schizophrenia

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Distinct variants at LIN28B influence growth in height from birth to adulthood

scientific article

Early environment and neurobehavioral development predict adult temperament clusters

scientific article

Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex.

scientific article published on 09 August 2008

Erratum: A population-specific HTR2B stop codon predisposes to severe impulsivity

scientific article published in Nature

Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

article

Erratum: Corrigendum: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scholarly article published in Nature Genetics

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

European lactase persistence genotype shows evidence of association with increase in body mass index

scientific article

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

scientific article published in August 2005

Evaluation of HapMap data in six populations of European descent

scientific article

Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

scientific article

Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder

scientific article published in August 2003

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

scientific article published on 29 February 2004

Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.

scientific article

Family-based association study of DYX1C1 variants in autism

scientific article

Finding disease candidate genes by liquid association

scientific article

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

scientific article published on 15 September 2002

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

scientific article published in December 2005

Food neophobia shows heritable variation in humans

scientific article published on 30 March 2007

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging

scientific article

Functional variant disrupts insulin induction of USF1: mechanism for USF1-associated dyslipidemias

scientific article published on 12 June 2009

Further Evidence For the Role ofENPP1in Obesity: Association With Morbid Obesity in Finns

article

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

scientific article

Gender differences in genetic risk profiles for cardiovascular disease

scientific article published in 2008

Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort

scientific journal article

Genes and schizophrenia: beyond schizophrenia: the role of DISC1 in major mental illness

scientific article

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease

scientific article

Genetic architecture of circulating lipid levels

scientific article

Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis

scientific article published on 12 November 2009

Genetic component of identification, intensity and pleasantness of odours: a Finnish family study

scientific article published on 7 March 2007

Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966

scientific article

Genetic evidence of assortative mating in humans

article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia

scientific article published in September 2002

Genetic linkage and association between chromosome 1q and working memory function in schizophrenia

scientific article published in January 2003

Genetic linkage findings for DSM-IV nicotine withdrawal in two populations

scientific article

Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples

scientific article published on 26 March 2007

Genetic loci influencing kidney function and chronic kidney disease

scientific article

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

scientific article

Genetic structure of Europeans: a view from the North-East

scientific article

Genetic variants and blood pressure in a population-based cohort: the Cardiovascular Risk in Young Finns study

scientific article published on 24 October 2011

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genetics of healthy aging in Europe: the EU-integrated project GEHA (GEnetics of Healthy Aging).

scientific article published on April 2007

GenomEUtwin: A Strategy to Identify Genetic Influences on Health and Disease ⬇️

scientific article published on October 1, 2003

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

scientific article

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

scientific article

Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families

scientific article published on 12 March 2002

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

scientific article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

scientific article

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study identifies five loci associated with lung function

scientific article

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

scientific article

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

scientific article

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

scientific article

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

scientific article published on 10 January 2010

Genome-wide association study of intracranial aneurysm identifies three new risk loci

scientific article

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide association study of smoking initiation and current smoking

scientific article published on 05 March 2009

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide association study reveals multiple loci associated with primary tooth development during infancy

scientific article

Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects

scientific article published on 10 September 2008

Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits

scientific journal article

Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11-13.

scientific article published on 5 March 2008

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

scientific article published on July 2009

Genomic, Transcriptomic, and Lipidomic Profiling Highlights the Role of Inflammation in Individuals With Low High-density Lipoprotein Cholesterol

Geographical structure and differential natural selection among North European populations

scientific article published on 05 March 2009

Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity

scientific article

Glucocorticoid receptor (NR3C1) gene polymorphisms and onset of alcohol abuse in adolescents

scientific article

HLA-B maternal-fetal genotype matching increases risk of schizophrenia

scientific article

Haplotype analysis and identification of genes for a complex trait: examples from schizophrenia

scientific article published in January 2004

Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects

scientific article (publication date: December 2003)

High prevalence of four long QT syndrome founder mutations in the Finnish population

scientific article

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH ⬇️

scientific article (publication date: August 1997)

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

scientific article

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

scientific article

Identification of a variant associated with adult-type hypolactasia

scientific article (publication date: February 2002)

Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population

Identification of ten loci associated with height highlights new biological pathways in human growth

scientific article

Identifying Schizophrenia and Other Psychoses With Psychological Scales in the General Population

Impact of temperament on depression and anxiety symptoms and depressive disorder in a population-based birth cohort

scientific article

Impact of the dopamine receptor gene family on temperament traits in a population-based birth cohort

scientific article

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

scientific article published in January 2008

Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease

scientific article published in December 2005

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort

scientific article (publication date: 27 August 2011)

Isolated populations and complex disease gene identification

scientific article

Isolates and their potential use in complex gene mapping efforts

scientific article published on June 2004

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

scientific article published on June 2010

Large recurrent microdeletions associated with schizophrenia

scientific article

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale purification and preliminary X-ray diffraction studies of human aspartylglucosaminidase

scientific article published on 01 February 1996

Lessons from studying monogenic disease for common disease

scientific article

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.

scientific article

Life-course analysis of a fat mass and obesity-associated (FTO) gene variant and body mass index in the Northern Finland Birth Cohort 1966 using structural equation modeling

scientific article

Linkage analysis of schizophrenia controlling for population substructure

scientific article

Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland

scientific article published on 19 May 2009

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

scientific article published in March 2004

Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia

scientific article published in May 2002

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

scientific article published on 16 July 2004

Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study

scientific journal article

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

scientific article

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

scientific article

MORGAM (an international pooling of cardiovascular cohorts).

scientific article

MYO9B polymorphisms in multiple sclerosis

scientific article published on 14 January 2009

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

scientific article published on 2 April 2006

Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis

scientific article

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

scientific article

Meta-Analysis of Genome-wide Linkage Studies in BMI and Obesity*

article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

scientific article published on 11 September 2011

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

scientific article

Metabonomic, transcriptomic, and genomic variation of a population cohort

scientific article

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

scientific journal article

Mixture model clustering of phenotype features reveals evidence for association of DTNBP1 to a specific subtype of schizophrenia

scientific article published on 27 September 2009

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

scientific article (publication date: November 2003)

Monogenic autoimmune diseases - lessons of self-tolerance

scientific article

Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth

scientific article

Multiple common variants for celiac disease influencing immune gene expression

scientific article

Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.

scientific article

Multippeliskleroosi--geenitutkimus apuna taudin biologisen palapelin kokoamisessa

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

scientific article published on August 2009

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

scientific article

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency

scientific article

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype ⬇️

scientific article

Neural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expression.

scientific article published in February 2007

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

scientific article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New susceptibility locus for coronary artery disease on chromosome 3q22.3.

scientific article published on 08 February 2009

No association between common variants in glyoxalase 1 and autism spectrum disorders

scientific article published in January 2008

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

scientific article

NordicDB: a Nordic pool and portal for genome-wide control data

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes

scientific article

Novelty seeking: interaction between parental alcohol use and dopamine D4 receptor gene exon III polymorphism over 17 years

scientific article published in June 2005

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

OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism

scientific article

PRKCA and multiple sclerosis: association in two independent populations

scientific article published on 31 March 2006

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

scientific article

Phenotype mining in CNV carriers from a population cohort

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

scientific article

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy

scientific article

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders

scientific article published in March 2002

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

scholarly article by Isabelle Massat et al published 14 February 2002 in American Journal of Medical Genetics Part A

Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population

scientific article published in December 2007

Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

scientific article

Pubertal timing and growth influences cardiometabolic risk factors in adult males and females

scientific article published on 14 February 2012

Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies

scientific article

Quantification of serum and cerebrospinal fluid gelsolin in familial amyloidosis, Finnish type (AGel)

RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order

scientific article published in March 2004

RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility

scientific article

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

scientific article published on 30 January 2014

Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia

scientific article

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

scientific article

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

scientific article

Search for cognitive trait components of schizophrenia reveals a locus for verbal learning and memory on 4q and for visual working memory on 2q.

scientific article published on 15 June 2004

Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism

scientific article published in February 2004

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

scientific article published on 15 July 2004

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Sex-specific influence of DRD2 on ADHD-type temperament in a large population-based birth cohort

scientific article published on 01 August 2012

Sialin expression in the CNS implicates extralysosomal function in neurons

scientific article (publication date: March 2004)

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Socio-demographic characteristics moderate the association between DRD4 and Novelty seeking

Specific developmental disruption of disrupted-in-schizophrenia-1 function results in schizophrenia-related phenotypes in mice

scholarly article

Sweet taste preferences are partly genetically determined: identification of a trait locus on chromosome 16

scientific article published on 01 July 2007

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting

scientific article

TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood

scientific article

Temperament clusters in a normal population: implications for health and disease

scientific article

The Collaborative Cross, a community resource for the genetic analysis of complex traits

article

The SLC6A14 gene shows evidence of association with obesity

scientific article

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

scientific article published on January 2009

The brain structural disposition to social interaction

scientific article

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The effect of chromosome 9p21 variants on cardiovascular disease may be modified by dietary intake: evidence from a case/control and a prospective study

scientific article

The federated database--a basis for biobank-based post-genome studies, integrating phenome and genome data from 600,000 twin pairs in Europe

scientific article

The genome-wide patterns of variation expose significant substructure in a founder population

scientific article (publication date: December 2008)

The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts

scientific article published on April 2009

The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories

scientific article published on 01 January 2003

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

scientific journal article

The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland

article

The role of the CD58 locus in multiple sclerosis

scientific article

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

scientific article

Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression

scientific article

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

scientific article

USF1 and dyslipidemias: converging evidence for a functional intronic variant

scientific article published on 2 August 2005

USF1 deficiency activates brown adipose tissue and improves cardiometabolic health

scientific article

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

scientific article

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

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

scientific article published on 16 February 2009

Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes

scientific article

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels

scientific article published on 11 December 2008

Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts

article

Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs

scientific article

Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease

scientific article published on 12 May 2009

[Do we need a Finnish biobank? Availability of epidemiologic data should benefit everybody]

scientific article published on 01 January 2004

cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia

scientific article published on October 2002

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