Associated Papers
The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Cylwik D et al.
Cancers, 2026
Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.
Kosaka Y et al.
American Journal of Human Genetics, 2025
A Validation Approach for Determining Fetal Blood Groups Non-Invasively by High-Sensitive Next-Generation Sequencing.
Wienzek-Lischka S et al.
Journal of Clinical Medicine, 2025
Genetic markers of thrombophilia as predictors of outcome in colorectal cancer.
Tavares V et al.
Journal of Thrombosis and Thrombolysis, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Association of Glycoprotein IIIa PlA1/A2 Polymorphism with Risk of Stroke: Updated Meta-Analysis.
Coadă CA et al.
Current Issues in Molecular Biology, 2024
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.
Marcos González S et al.
Biomedicines, 2023
An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis.
Kramer RA et al.
International Journal of Molecular Sciences, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
The 4G/5G polymorphism of plasminogen activator inhibitor type 1 is a predictor of allergic cough.
Tang R et al.
Frontiers in Genetics, 2023
The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.
Jankovic M et al.
International Journal of Molecular Sciences, 2022
Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients.
Hirata TDC et al.
Molecular Diagnosis & Therapy, 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.
Prakash A et al.
Scientific Reports, 2021
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE et al.
Blood Advances, 2021
Genetic Factors in Antiphospholipid Syndrome: Preliminary Experience with Whole Exome Sequencing.
Barinotti A et al.
International Journal of Molecular Sciences, 2020
Pharmacogenomic polygenic response score predicts ischaemic events and cardiovascular mortality in clopidogrel-treated patients.
Lewis JP et al.
European Heart Journal. Cardiovascular Pharmacotherapy, 2020
A multi-centre study on the performance of the molecular genotyping platform ID RHD XT for resolving serological weak RhD phenotype in routine clinical practice.
Londero D et al.
Vox Sanguinis, 2020
Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.
Čeri A et al.
Croatian Medical Journal, 2020
Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.
Oetting WS et al.
Transplantation, 2019
Inter-Individual Variability in Xenobiotic-Metabolizing Enzymes: Implications for Human Aging and Longevity.
Crocco P et al.
Genes, 2019
A Single-Nucleotide Polymorphism of αVβ₃ Integrin Is Associated with the Andes Virus Infection Susceptibility.
Martínez-Valdebenito C et al.
Viruses, 2019
Association between MBL2 haplotypes and dengue severity in children from Rio de Janeiro, Brazil.
Ornelas AMM et al.
Memorias Do Instituto Oswaldo Cruz, 2019
Performance evaluation study of ID RHD XT, a new genotyping assay for the detection of high-prevalence RhD negative and weak D types.
Molano A et al.
Vox Sanguinis, 2018
Myocardial infarction before and after the age of 45: Possible role of platelet receptor polymorphisms.
Pina-Cabral LB et al.
Revista Portuguesa De Cardiologia, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
[Possible Genetic Predictors of Cardiovascular Complications After Coronary Artery Bypass Surgery].
Grinshtein YI et al.
Kardiologiia, 2018
The Prognostic Value of Combinations of Genetic Polymorphisms in the ITGB3, ITGA2, and CYP2C19*2 Genes in Predicting Cardiovascular Outcomes After Coronary Bypass Grafting.
Grinshtein YI et al.
Genetic Testing and Molecular Biomarkers, 2018
Genetics of acute rejection after kidney transplantation.
Dorr CR et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2018
Association of Polymorphisms in Coagulation Factor Genes and Enzymes of Homocysteine Metabolism With Arterial Ischemic Stroke in Children.
Coen Herak D et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
Nurden AT
Blood Reviews, 2017
The CYP2C19*2 and CYP2C19*17 Polymorphisms play a Vital Role in Clopidogrel Responsiveness after Percutaneous Coronary Intervention: A Pharmacogenomics Study.
Saydam F et al.
Basic & Clinical Pharmacology & Toxicology, 2017
Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.
Guz K et al.
Polish Archives of Internal Medicine, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.
Fawzy MS et al.
Bmc Cardiovascular Disorders, 2017
Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.
Cunha MLR et al.
Plos One, 2017
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
Pillois X et al.
British Journal of Haematology, 2016
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
Polymorphism in Integrin ITGA2 is Associated with Ischemic Stroke and Altered Serum Cholesterol in Chinese Individuals.
Lu JX et al.
Balkan Medical Journal, 2014
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Frequency of human platelet antigens in oncohematological patients with thrombocytopenia and the probability of incompatibility to platelet transfusions.
Bianchi JV et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohort.
Oetting WS et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2011
Human platelet antigen allele frequencies and new mutations on platelet glycoprotein genes in the Chinese Han population.
Xu X et al.
Transfusion Medicine (oxford, England), 2011
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.
Fiore M et al.
European Journal of Human Genetics : Ejhg, 2011
Single nucleotide polymorphisms of integrin alpha-2 and beta-3 genes are not associated with relapse-free and overall survival in colorectal cancer patients.
Hofmann G et al.
Anticancer Research, 2011
Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.
Zintzaras E et al.
Bmc Medicine, 2011