George P Patrinos

Summary

Affiliation: University of Patras
Country: Greece

Publications

  1. pmc FINDbase: a worldwide database for genetic variation allele frequencies updated
    Marianthi Georgitsi
    Department of Pharmacy, School of Health Sciences, Faculty of Engineering, University of Patras, Patras, Greece
    Nucleic Acids Res 39:D926-32. 2011
  2. pmc Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection
    Zoi Lanara
    Faculty of Mathematical, Physical and Natural Sciences, Department of Biological Sciences, University of Trieste, Trieste, 34128, Italy
    Hum Genomics 7:14. 2013
  3. pmc 6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy
    Maja Stojiljkovic
    Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, Belgrade 11010, Republic of Serbia
    Hum Genomics 6:19. 2012
  4. pmc ETHNOS : A versatile electronic tool for the development and curation of national genetic databases
    Sjozef van Baal
    Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Genomics 4:361-8. 2010
  5. pmc VarioML framework for comprehensive variation data representation and exchange
    Myles Byrne
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland
    BMC Bioinformatics 13:254. 2012
  6. pmc Genetic tests obtainable through pharmacies: the good, the bad, and the ugly
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, 26504, Greece
    Hum Genomics 7:17. 2013
  7. doi request reprint Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Hum Mutat 33:1503-12. 2012
  8. doi request reprint Human Variome Project country nodes: documenting genetic information within a country
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Hum Mutat 33:1513-9. 2012
  9. pmc Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
    George P Patrinos
    University of Patras, Department of Pharmacy, Greece
    Hum Mutat 32:2-9. 2011
  10. pmc Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium
    George P Patrinos
    University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece
    Hum Mutat 32:698-703. 2011

Collaborators

Detail Information

Publications43

  1. pmc FINDbase: a worldwide database for genetic variation allele frequencies updated
    Marianthi Georgitsi
    Department of Pharmacy, School of Health Sciences, Faculty of Engineering, University of Patras, Patras, Greece
    Nucleic Acids Res 39:D926-32. 2011
    ....
  2. pmc Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection
    Zoi Lanara
    Faculty of Mathematical, Physical and Natural Sciences, Department of Biological Sciences, University of Trieste, Trieste, 34128, Italy
    Hum Genomics 7:14. 2013
    ..Our analysis revealed a total of 17 gene-disease pairs that are affected and generated gene/disease clusters, many of which proved to be independent of the criteria used, which suggests that these clusters are biologically meaningful...
  3. pmc 6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy
    Maja Stojiljkovic
    Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, Belgrade 11010, Republic of Serbia
    Hum Genomics 6:19. 2012
    ..The scientific program included lectures by the local and international speakers from Europe and the United States...
  4. pmc ETHNOS : A versatile electronic tool for the development and curation of national genetic databases
    Sjozef van Baal
    Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Genomics 4:361-8. 2010
    ....
  5. pmc VarioML framework for comprehensive variation data representation and exchange
    Myles Byrne
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland
    BMC Bioinformatics 13:254. 2012
    ..Complex standards have proven too time-consuming to implement...
  6. pmc Genetic tests obtainable through pharmacies: the good, the bad, and the ugly
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, 26504, Greece
    Hum Genomics 7:17. 2013
    ....
  7. doi request reprint Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Hum Mutat 33:1503-12. 2012
    ..Here, we summarize and critically evaluate approaches that have been proposed to address current deficiencies in data attribution and discuss ways in which they could become more widely adopted as novel scientific publication modalities...
  8. doi request reprint Human Variome Project country nodes: documenting genetic information within a country
    George P Patrinos
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Hum Mutat 33:1513-9. 2012
    ....
  9. pmc Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
    George P Patrinos
    University of Patras, Department of Pharmacy, Greece
    Hum Mutat 32:2-9. 2011
    ..We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects...
  10. pmc Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium
    George P Patrinos
    University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece
    Hum Mutat 32:698-703. 2011
    ..In addition, various topics on genetics and society and genetic analysis in clinical practice were discussed. We provide an overview of the plenary lectures and the topics discussed in the symposium...
  11. doi request reprint Pharmacogenomics: paving the path to personalized medicine
    George P Patrinos
    University of Patras, School of Health Sciences, Department of Pharmacy, University Campus, GR 26504, Rion, Patras, Greece
    Pharmacogenomics 11:141-6. 2010
    ..It was endorsed by the University of Chicago and partly funded by the University of Patras. Here, we report some highlights of this meeting...
  12. doi request reprint Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey
    Emmanouil Viennas
    Department of Computer Engineering and Informatics, University of Patras, Patras, Greece
    Genomics 100:93-101. 2012
    ....
  13. doi request reprint KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients
    Joseph Borg
    Erasmus University Medical Center, Department of Cell Biology, Rotterdam, The Netherlands
    Pharmacogenomics 13:1487-500. 2012
    ..In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood...
  14. ncbi request reprint A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype
    Emily Giannopoulou
    Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece
    Hemoglobin 36:433-45. 2012
    ..Our data suggest that the rs2071348 polymorphism is associated with higher Hb F levels and a milder β-thal disease phenotype. However, the rs2071348 polymorphism in the HBBP1 gene does not correlate with response to HU treatment...
  15. pmc Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies
    Petros Papadopoulos
    Department of Pharmacy, School of Health Sciences, University of Patras, GR 26504, Patras, Greece, Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, GR 26504, Patras, Greece, Faculty of Medicine and Pharmacy, Human Genomic Center, University Mohammed V Souissi, 11400, Rabat, Morocco and Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR 26334, Patras, Greece
    Nucleic Acids Res 42:D1020-6. 2014
    ....
  16. doi request reprint Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy
    Christina Tafrali
    University of Patras, School of Health Sciences, Department of Pharmacy, University Campus, Rion, Patras, Greece
    Pharmacogenomics 14:469-83. 2013
    ..Furthermore, we examined MAP3K5 expression in the context of high fetal hemoglobin (HbF) and upon HU treatment in erythroid progenitor cells from healthy and KLF1 haploinsufficient individuals...
  17. ncbi request reprint A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software
    Sophia Zaimidou
    Medical Genetics Centre Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands
    Hum Mutat 30:308-13. 2009
    ....
  18. pmc Recent advances in genetic predisposition of myasthenia gravis
    Zoi Zagoriti
    Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, 26504 Rio, Patras, Greece
    Biomed Res Int 2013:404053. 2013
    ..Although the majority of these results have been derived from candidate gene studies, the focal point of all recent genetic studies is the first genome-wide association study (GWAS) conducted on early-onset MG patients. ..
  19. doi request reprint Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase
    Marianthi Georgitsi
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Pharmacogenomics 12:49-58. 2011
    ....
  20. pmc Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
    Belinda Giardine
    The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA, Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta, MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands, Department of Computer Engineering and Informatics, University of Patras, Faculty of Engineering, Patras, Greece, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece, Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France, Hopital Edouard Herriot, Unité de Pathologie Moléculaire du Globule Rouge, Lyon, France, Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece, INSERM U955, CHU Henri Mondor, Creteil, France and Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA
    Nucleic Acids Res 42:D1063-9. 2014
    ....
  21. pmc Genetics of myasthenia gravis: a case-control association study in the Hellenic population
    Zoi Zagoriti
    Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, Greece
    Clin Dev Immunol 2012:484919. 2012
    ..As far as we are aware, this is the first worldwide attempt to address the possible association between IRF-5 and TNFAIP3 common genetic variants and the genetic basis of MG...
  22. ncbi request reprint Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1
    Adamantia Papachatzopoulou
    Department of General Biology, School of Medicine, University of Patras, Patras, Greece
    Am J Hematol 82:1005-9. 2007
    ..We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in gamma-globin genes expression...
  23. doi request reprint Pharmacogenomics and therapeutics of hemoglobinopathies
    George P Patrinos
    Erasmus Medical Center, Faculty of Medicine and Health Sciences Medical Genetics Cluster Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hemoglobin 32:229-36. 2008
    ....
  24. doi request reprint Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use
    Christina Mitropoulou
    Erasmus MC, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Mutat 31:1109-16. 2010
    ..We propose a structure, based on LSDBs and closely related repositories (namely, clinical genetics databases), which would contribute to a federated genetic variation browser and also allow the maintenance of variation data...
  25. ncbi request reprint DNA, diseases and databases: disastrously deficient
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Trends Genet 21:333-8. 2005
    ..g. technological hurdles, publication requirements, the short-sighted and popularist research system). A lack of targeted funding is arguably the most fundamental problem, but one that can be solved...
  26. pmc A dual reporter mouse model of the human β-globin locus: applications and limitations
    Petros Papadopoulos
    Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands
    PLoS ONE 7:e51272. 2012
    ....
  27. ncbi request reprint National and ethnic mutation databases: recording populations' genography
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Mutat 27:879-87. 2006
    ..The ultimate goal is that interested parties and granting bodies will assist in achieving the vision of a comprehensive resource that collects and displays all population-specific genetic information discovered...
  28. ncbi request reprint Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease
    Gerassimos E Voutsinas
    Department of General Biology, School of Medicine, University of Patras, Patras, GR 26500, Greece
    Hum Mutat 31:685-91. 2010
    ..Ala53Thr allele and upregulation of the wild-type-allele. This phenomenon is demonstrated for a first time in the SNCA gene, and may have important implications for PD pathogenesis...
  29. pmc FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
    Sjozef van Baal
    Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Nucleic Acids Res 35:D690-5. 2007
    ....
  30. doi request reprint Genetic databases in pharmacogenomics: the Frequency of Inherited Disorders Database (FINDbase)
    Marianthi Georgitsi
    Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
    Methods Mol Biol 1015:321-36. 2013
    ..Long-term sustainability of these resources aims to contribute to the design, development, and implementation of pharmacogenomics testing towards the application of personalized approaches in medical treatment. ..
  31. doi request reprint Genetic recombination as a major cause of mutagenesis in the human globin gene clusters
    Joseph Borg
    Erasmus MC, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Clin Biochem 42:1839-50. 2009
    ..The role of genetic recombination, particularly gene conversion in the evolution of the human globin gene families has been discussed elsewhere...
  32. pmc Association of genome variations in the renin-angiotensin system with physical performance
    Argyro Sgourou
    School of Science and Technology, Hellenic Open University, Patras, Greece
    Hum Genomics 6:24. 2012
    ....
  33. doi request reprint Transcriptional regulation and pharmacogenomics
    Marianthi Georgitsi
    Department of Pharmacy, School of Health Sciences, University of Patras, 26504 Rion, Patras, Greece
    Pharmacogenomics 12:655-73. 2011
    ....
  34. ncbi request reprint Individualizing clozapine and risperidone treatment for schizophrenia patients
    Evangelia Eirini Tsermpini
    University of Patras School of Health Sciences, Department of Pharmacy, University Campus, Rion, GR 26504, Patras, Greece
    Pharmacogenomics 15:95-110. 2014
    ..We conclude that pharmacogenomics for these two drugs is still not ready for implementation in the clinic. ..
  35. ncbi request reprint Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece
    Adamantia Papachatzopoulou
    Molecular Genetics Unit, Department of General Biology, Faculty of Medicine, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece
    Hemoglobin 34:333-42. 2010
    ....
  36. doi request reprint First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population
    Marianthi Georgitsi
    University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece
    Hemoglobin 35:91-5. 2011
    ..Family studies indicated that this Hb variant was inherited from the mother. This finding underlines the vast genetic heterogeneity of the HBD gene in the Hellenic population...
  37. ncbi request reprint Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Mutat 25:327-33. 2005
    ..Creation of the Hellenic National Mutation database will significantly facilitate molecular diagnosis of inherited disorders in Greece and will motivate further investigation of yet unknown genetic diseases in the Hellenic population...
  38. ncbi request reprint Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis
    Adamantia Papachatzopoulou
    University of Patras, School of Medicine, Department of General Biology, Patras, Greece
    Am J Hematol 81:136-8. 2006
    ....
  39. ncbi request reprint Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Hum Mutat 26:399-412. 2005
    ..This article also attempts to shed light on issues closely related to thalassemia diagnostics, such as prenatal and preimplantation genetic diagnoses and genetic counseling, for better-quality disease management...
  40. ncbi request reprint Genetic databases and their potential in pharmacogenomics
    George Lagoumintzis
    Department of Pharmacy, University of Patras, Patras, Greece
    Curr Pharm Des 16:2224-31. 2010
    ..Moreover, the key elements that are holding back the field as well as the challenges that should be addressed in the near future are also commented...
  41. doi request reprint Identical mutations in the paralogous human γ-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin
    Adamantia Papachatzopoulou
    University of Patras, Faculty of Medicine, Laboratory of General Biology, Patras, Greece
    Hemoglobin 35:135-41. 2011
    ..These γ-globin chain variants have most likely occurred via recurrent mutations, gene conversion events or both and, contrary to the situation observed in the human α-globin genes, these mutations lead to distinct variant Hb molecules...
  42. pmc Copy number variation and genomic alterations in health and disease
    George P Patrinos
    Faculty of Medicine and Health Sciences, Medical Genetics Center Department of Cell Biology and Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Genome Med 1:21. 2009
    ..A report of the 1st GOLDEN HELIX Symposium 'Copy number variation and genomic alterations in health and disease', Athens, Greece, 28-29 November 2008...