subject area of

• A 3-year Mediterranean-style dietary intervention may modulate the association between adiponectin gene variants and body weight change  Academic Article
• A Familial 7q36.3 Duplication Associated with Agenesis of the Corpus Callosum  Academic Article
• A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations  Academic Article
• A Systematic Strategy for the Discovery of Candidate Genes Responsible for Phenotypic Variation  Academic Article
• A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome  Academic Article
• A comparison of gait patterns between the offspring of people with medial tibiofemoral osteoarthritis and normal controls  Academic Article
• A genetic epilepsy rat model displays endophenotypes of psychosis  Academic Article
• A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21  Academic Article
• A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium  Academic Article
• A hypermorphic epithelial beta-catenin mutation facilitates intestinal tumorigenesis in mice in response to compounding WNT-pathway mutations  Academic Article
• A novel duplication polymorphism in the FANCApromoter and its association with breast and ovarian cancer  Academic Article
• A pathway-based approach investigating the genes encoding interleukin-1 , interleukin-6 and the interleukin-1 receptor antagonist provides new insight into the genetic susceptibility of Achilles tendinopathy  Academic Article
• A simple tool for identifying unaffected women at a moderately increased or potentially high risk of breast cancer based on their family history  Academic Article
• A systematic strategy for large-scale analysis of genotype–phenotype correlations: identification of candidate genes involved in African trypanosomiasis  Academic Article
• AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome  Academic Article
• Accuracy of Predicting the Genetic Risk of Disease Using a Genome-Wide Approach  Academic Article
• Accurate and robust genomic prediction of Celiac disease using statistical learning  Academic Article
• Altered expression of the FMR1 splicing variants landscape in premutation carriers  Academic Article
• Altered significance of D'Amico risk classification in patients with prostate cancer linked to a familial breast cancer (kConFab) cohort  Academic Article
• An Association Between a Dopamine Transporter Gene (SLC6A3) Haplotype and ADHD Symptom Measures in Nonclinical Adults  Academic Article
• An overview of the serpin superfamily  Academic Article
• Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis  Academic Article
• Apolipoprotein E genotype in matched men and women with coronary heart disease  Academic Article
• Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy  Academic Article
• Association between TNF-α −308G>A polymorphism and the development of acute coronary syndromes in Greek subjects: The CARDIO2000-GENE Study  Academic Article
• Association between obesity and insulin resistance with UCP2–UCP3 gene variants in Spanish children and adolescents  Academic Article
• Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression  Academic Article
• Association of ADIPOQ gene with obesity and adiponectin levels in Malaysian Malays  Academic Article
• Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis  Academic Article
• Association of the receptor for advanced glycation end products gene polymorphisms and circulating RAGE levels with diabetic retinopathy in the Chinese population  Academic Article
• Associations between single-nucleotide polymorphisms (+45T > G,+276G > T,-11377C > G,-11391G > A) of adiponectin gene and type 2 diabetes mellitus: a systematic review and meta-analysis  Academic Article
• Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to the Mediterranean diet pattern is low  Academic Article
• BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1tumour phenotype  Academic Article
• Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome  Academic Article
• Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings  Academic Article
• Benefits of the Mediterranean Diet: Insights From the PREDIMED Study  Academic Article
• Brain-derived neurotrophic factor heterozygous mutant rats show selective cognitive changes and vulnerability to chronic corticosterone treatment  Academic Article
• Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population  Academic Article
• CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia  Academic Article
• CD40 Ligand Mediates Inflammation Independently of CD40 by Interaction With Mac-1  Academic Article
• CHO intake alters obesity risk associated with Pro12Ala polymorphism of PPARγ gene  Academic Article
• CLOCK gene variation is associated with incidence of type-2 diabetes and cardiovascular diseases in type-2 diabetic subjects: Dietary modulation in the PREDIMED randomized trial  Academic Article
• Can genetic-based advice help you lose weight? Findings from the Food4Me European randomized controlled trial  Academic Article
• Can merely learning about obesity genes affect eating behavior?  Academic Article
• Cdkn2a Is an Atherosclerosis Modifier Locus That Regulates Monocyte/Macrophage Proliferation  Academic Article
• Challenges in Sex- and Gender-Centered Prevention and Management of Cardiovascular Disease: Implications of Genetic, Metabolic, and Environmental Paths  Academic Article
• Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma  Academic Article
• Combined genotype and haplotype tests for region-based association studies  Academic Article
• Common variants near MC4R are associated with fat mass, weight and risk of obesity  Academic Article
• Common variants of apolipoprotein E and cholesteryl ester transport protein genes in male patients with coronary heart disease and variable body mass index  Academic Article
• Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study  Academic Article
• Components of the transforming growth factor-  family and the pathogenesis of human Achilles tendon pathology--a genetic association study  Academic Article
• Concepts Collide: Genomic, Immune, and Microbial Influences on the Tumor Microenvironment and Response to Cancer Therapy  Academic Article
• Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer  Academic Article
• Copy number polymorphisms in new HapMap III and Singapore populations  Academic Article
• Covariate Adjusted Correlation Analysis with Application to FMR1 Premutation Female Carrier Data  Academic Article
• DNA methylation, epimutations and cancer predisposition  Academic Article
• Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis  Academic Article
• Deletion of IL-4R alpha in the BALB/c mouse is associated with altered lesion topography and susceptibility to experimental autoimmune encephalomyelitis  Academic Article
• Depressive-like behavior and high alcohol drinking co-occur in the FH/WJD rat but appear to be under independent genetic control  Academic Article
• Detection of MGMT Promoter Methylation in Normal Individuals Is Strongly Associated with the T Allele of the rs16906252 MGMT Promoter Single Nucleotide Polymorphism  Academic Article
• Detection of genes with moderate effects on disease resistance using ovine mhc and resistance to nematodes as an example  Conference Paper
• Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity  Academic Article
• Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children  Academic Article
• Developmental impact of a familial GABAAreceptor epilepsy mutation  Academic Article
• Drugs of abuse and increased risk of psychosis development  Academic Article
• Effect of an Internet-based, personalized nutrition randomized trial on dietary changes associated with the Mediterranean diet: the Food4Me Study  Academic Article
• Elevated hypothalamic beacon gene expression in Psammomys obesus prone to develop obesity and type 2 diabetes  Academic Article
• Environment-gene interactions in intestinal cancer  Conference Paper
• Epidermal Growth Factor Receptor Extracellular Domain Mutations in Glioblastoma Present Opportunities for Clinical Imaging and Therapeutic Development  Academic Article
• Estimated glomerular filtration rate and its association with the retinol-binding protein 4 (RBP4) locus on human chromosome 10q23  Academic Article
• Estimating the number of true discoveries in genome-wide association studies  Academic Article
• Evidence for association between endothelial nitric oxide synthase gene polymorphism (G894T) and inflammatory markers: The ATTICA study  Academic Article
• Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females  Academic Article
• Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations  Academic Article
• Extracellular Matrix Proteins Interact With Cell-Signaling Pathways in Modifying Risk of Achilles Tendinopathy  Academic Article
• FMR1 gray-zone alleles: Association with Parkinson's disease in women?  Academic Article
• FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males  Academic Article
• FTO genotype and weight loss: systematic review and meta-analysis of 9563 individual participant data from eight randomised controlled trials  Academic Article
• Factor XIII Val34Leu polymorphism and the risk of myocardial infarction under the age of 36 years  Academic Article
• Familial Occurrence of Preeclampsia  Academic Article
• Family history: The neglected risk factor in disease prevention [1]  Academic Article
• Fat mass- and obesity-associated genotype, dietary intakes and anthropometric measures in European adults: the Food4Me study  Academic Article
• FcγRIIa (CD32) polymorphism and anti-malarial IgG subclass pattern among Fulani and sympatric ethnic groups living in eastern Sudan  Academic Article
• Five-year incidence of type 2 diabetes mellitus among cardiovascular disease-free Greek adults: Findings from the ATTICA study  Academic Article
• Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction  Academic Article
• Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene  Academic Article
• Functional EEG connectivity in infants associates with later restricted and repetitive behaviours in autism; A replication study  Academic Article
• Functional relevance of genetic variations of endothelial nitric oxide synthase and vascular endothelial growth factor in diabetic coronary microvessel dysfunction  Academic Article
• G allele of the −930A>G polymorphism of the CYBA gene is associated with insulin resistance in obese subjects  Academic Article
• G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history  Academic Article
• GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies  Academic Article
• Gene-environment interactions ofCETPgene variation in a high cardiovascular risk Mediterranean population  Academic Article
• Genetic Analysis of the Trichuris Muris-Induced Model of Colitis Reveals QTL Overlap and a Novel Gene Cluster for Establishing Colonic Inflammation  Academic Article
• Genetic and Molecular Functional Characterization of Variants within TNFSF13B, a Positional Candidate Preeclampsia Susceptibility Gene on 13q  Academic Article
• Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci  Academic Article
• Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease  Academic Article
• Genetic disorders and the quest for candidate genes: Hypotheses worth testing  Academic Article
• Genetic dissection of MHC-associated susceptibility to Lepeophtheirus salmonis in Atlantic salmon  Academic Article
• Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease  Academic Article
• Genetic segregation of inflammatory lung disease and autoimmune disease severity in SHIP-1 -/- mice  Academic Article
• Genetic variants near the MGAT1 gene are associated with body weight, BMI and fatty acid metabolism among adults and children  Academic Article
• Genetic variation in resistance to mixed, predominantlyTeladorsagia circumcinctanematode infections of sheep: from heritabilities to gene identification  Academic Article
• Gene–gene interaction between PPARγ2 and ADRβ3 increases obesity risk in children and adolescents  Academic Article
• Genome-Wide Association Scan Identifies a Risk Locus for Preeclampsia on 2q14, Near the Inhibin, Beta B Gene  Academic Article
• Genome-wide analysis of genetic risk factors for rheumatic heart disease in Aboriginal Australians provides support for pathogenic molecular mimicry  Academic Article
• Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma  Academic Article
• Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans  Academic Article
• Genome-wide association studies and risk scores for coronary artery disease: Sex biases  Chapter
• Genome-wide association study identifies novel breast cancer susceptibility loci  Academic Article
• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls  Academic Article
• Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1  Academic Article
• Genomic copy number variations in three Southeast Asian populations  Academic Article
• Genotype-by-nutrition interaction: Interpretation of epidemiological studies  Academic Article
• High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis  Academic Article
• Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease  Academic Article
• IAP antagonists sensitize murine osteosarcoma cells to killing by TNF alpha  Academic Article
• IL-6 mediates the susceptibility of glycoprotein 130 hypermorphs to Toxoplasma gondii  Academic Article
• Identification of expanded alleles of the FMR1 gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study  Academic Article
• Impact of Peroxisome Proliferator–activated Receptors γ and δ on Adiposity in Toddlers and Preschoolers in the GENESIS Study  Academic Article
• Inflammatory cytokine gene variants in coronary artery disease patients in Greece  Academic Article
• Inhibin and premature ovarian failure  Academic Article
• Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis  Academic Article
• Integrated comparison of GWAS, transcriptome, and proteomics studies highlights similarities in the biological basis of animal and human myopia  Academic Article
• Interaction between genes and lifestyle factors on obesity  Academic Article
• International Olympic Committee Consensus Statement: Molecular Basis of Connective Tissue and Muscle Injuries in Sport  Academic Article
• Is endemic stability of tick-borne disease in cattle a useful concept?  Academic Article
• KCNQ1 SNPS and susceptibility to diabetic nephropathy in East Asians with type 2 diabetes  Academic Article
• Lack of association between genetic variations in the KALRN region and ischemic stroke  Academic Article
• Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder  Academic Article
• Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study  Academic Article
• MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders  Academic Article
• Mechanisms underlying resistance to nematode infection  Academic Article
• Mediterranean Diet Adherence and Genetic Background Roles within a Web-Based Nutritional Intervention: The Food4Me Study  Academic Article
• Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity  Academic Article
• Mice deficient in the alpha subunit of Gz show changes in pre-pulse inhibition, anxiety and responses to 5-HT1A receptor stimulation, which are strongly dependent on the genetic background  Academic Article
• Modeling of host genetics and resistance to infectious diseases: understanding and controlling nematode infections  Conference Paper
• Molecular and clinical classification of human prion disease  Academic Article
• Multiple genetic loci modify susceptibility to plasmacytoma-related morbidity in E -v-abl transgenic mice  Academic Article
• Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients  Academic Article
• Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure  Academic Article
• Mutational analysis of betaglycan/TGF-βRIII in premature ovarian failure  Academic Article
• Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations  Academic Article
• Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency  Academic Article
• Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X  Academic Article
• Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients  Academic Article
• Novel Loci for Metabolic Networks and Multi-Tissue Expression Studies Reveal Genes for Atherosclerosis  Academic Article
• Novel association of the obesity risk-allele near Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene with heart rate and study of its effects on myocardial infarction in diabetic participants of the PREDIMED trial  Academic Article
• Nuclear HIF1A expression is strongly prognostic in sporadic but not familial male breast cancer  Academic Article
• Obesity Risk Is Associated with Carbohydrate Intake in Women Carrying the Gln27Glu β2-Adrenoceptor Polymorphism  Academic Article
• Omega 3 polyunsaturated fatty acids and the treatment of depression  Academic Article
• Ovarian Cancer Risk Associated with Inherited Inflammation-Related Variants  Academic Article
• PIK3CA mutations are frequently observed in BRCAX but not BRCA2 -associated male breast cancer  Academic Article
• Physical activity and sex modulate obesity risk linked to 3111T/C gene variant of the CLOCK gene in an elderly population: the SUN Project  Academic Article
• Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study  Academic Article
• Polymorphism of the transcription factor 7-like 2 gene (TCF7L2) interacts with obesity on type-2 diabetes in the PREDIMED study emphasizing the heterogeneity of genetic variants in type-2 diabetes risk prediction: Time for obesity-specific genetic risk scores  Academic Article
• Polymorphisms in inflammatory pathway genes, host factors and lung cancer risk in Chinese female never-smokers  Academic Article
• Post-infectious group A streptococcal autoimmune syndromes and the heart  Academic Article
• Power, false discovery rate and Winner's Curse in eQTL studies  Academic Article
• Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort  Academic Article
• Prenatal Vitamins, One-carbon Metabolism Gene Variants, and Risk for Autism  Academic Article
• Pro12Ala variant of the PPARG2 gene increases body mass index: An updated meta-analysis encompassing 49,092 subjects  Academic Article
• Psychiatric Phenotype of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in Males  Academic Article
• RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements  Other Publication
• Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species  Academic Article
• Rapid detection of carriers with BRCA1 and BRCA2mutations using high resolution melting analysis  Academic Article
• Receptor for advanced glycation end products Glycine 82 Serine polymorphism and risk of cardiovascular events in rheumatoid arthritis  Academic Article
• Reduced Mg2+ inhibition of Ca2+ release in muscle fibers of pigs susceptible to malignant hyperthermia  Academic Article
• Reduced bone density in cystic fibrosis:  F508 mutation is an independent risk factor  Academic Article
• Relation between physical activity and blood pressure levels in young Greek adolescents: The Leontio Lyceum Study  Academic Article
• Reviewer’s Commentary on 'Familial risk of obstetric anal sphincter injuries: registry-based cohort study'  Comment
• Risk prediction models for the development of diabetes in Mauritian Indians  Academic Article
• Screen for Excess FMR1 Premutation Alleles Among Males With Parkinsonism  Academic Article
• Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism  Academic Article
• Selective executive markers of at-risk profiles associated with the fragile X premutation  Academic Article
• Sengers syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex  Academic Article
• Serum matrix metalloproteinase-9 activity is dysregulated with disease progression in the mutant SOD1 transgenic mice  Academic Article
• Splicing dysfunction and disease: The case of granulopoiesis  Academic Article
• Susceptibility and Gene Interaction Study of the Angiotensin II Type 1 Receptor (AGTR1) Gene Polymorphisms with Non-Alcoholic Fatty Liver Disease in a Multi-Ethnic Population  Academic Article
• TERT structural rearrangements in metastatic pheochromocytomas  Academic Article
• TV watching modifies obesity risk linked to the 27Glu polymorphism of the ADRB2 gene in girls  Academic Article
• Targeting of the Tumor Suppressor GRHL3 by a miR-21-Dependent Proto-Oncogenic Network Results in PTEN Loss and Tumorigenesis  Academic Article
• The BDNF gene Val66Met polymorphism as a modifier of psychiatric disorder susceptibility: progress and controversy  Academic Article
• The Implications of Genetic Susceptibility for the Prevention of Colorectal Cancer: A Qualitative Study of Older Adults’ Understanding  Academic Article
• The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children  Academic Article
• The MMP3 gene in musculoskeletal soft tissue injury risk profiling: A study in two independent sample groups  Academic Article
• The STK33-Linked SNP rs4929949 Is Associated with Obesity and BMI in Two Independent Cohorts of Swedish and Greek Children  Academic Article
• The apoptosis pathway and the genetic predisposition to Achilles tendinopathy  Academic Article
• The associations between VEGF gene polymorphisms and diabetic retinopathy susceptibility: A meta-analysis of 11 case-control studies  Academic Article
• The diploid genome sequence of an Asian individual  Academic Article
• The dynamic influence of genetic variation on the susceptibility of sheep to gastrointestinal nematode infection  Academic Article
• The effect of the apolipoprotein E genotype on response to personalized dietary advice intervention: findings from the Food4Me randomized controlled trial  Academic Article
• The emerging role of DNA damage in the pathogenesis of the C9Orf72 repeat expansion in amyotrophic lateral sclerosis  Academic Article
• The heritability of abortion in pedigree Charollais flocks  Academic Article
• The history of stuttering by 7 years of age: Follow-up of a prospective community cohort  Academic Article
• The prediction of disease risk in genomic medicine  Academic Article
• Thyroid hormone receptor alpha gene variants increase the risk of developing obesity and show gene-diet interactions  Academic Article
• Towards a molecular systems model of coronary artery disease  Academic Article
• Traffic-related air pollution exposure is associated with allergic sensitization, asthma, and poor lung function in middle age  Academic Article
• Understanding breast cancer risk.  Academic Article
• Upregulated galectin-3 is not a critical disease mediator of cardiomyopathy induced by β 2 -adrenoceptor overexpression  Academic Article
• Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers  Academic Article
• Utility of genetic and non-genetic risk factors in predicting coronary heart disease in Singaporean Chinese  Academic Article
• Variants in MTNR1B influence fasting glucose levels  Academic Article
• Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations  Academic Article
• Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations  Academic Article
• Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)  Academic Article