George P Patrinos

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. ncbi request reprint HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    Ross C Hardison
    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA
    Hum Mutat 19:225-33. 2002
  2. pmc The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter
    Christos Chassanidis
    Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
    Ann Hematol 88:549-55. 2009
  3. pmc Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants
    Kamran Moradkhani
    Biochimie Génétique, AP HP, Hopital Henri Mondor, Creteil, France
    Ann Hematol 88:535-43. 2009
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. ncbi request reprint Recording human globin gene variation
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus MC, Rotterdam, The Netherlands
    Hemoglobin 28:v-vii. 2004
  10. pmc Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Nucleic Acids Res 32:D537-41. 2004

Collaborators

Detail Information

Publications43

  1. ncbi request reprint HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    Ross C Hardison
    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA
    Hum Mutat 19:225-33. 2002
    ..quot; This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci...
  2. pmc The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter
    Christos Chassanidis
    Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
    Ann Hematol 88:549-55. 2009
    ..109 is critical for NF-E3 binding. These data suggest that the HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the HPFH phenotype observed in our index cases...
  3. pmc Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants
    Kamran Moradkhani
    Biochimie Génétique, AP HP, Hopital Henri Mondor, Creteil, France
    Ann Hematol 88:535-43. 2009
    ..These alpha-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category...
  4. 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...
  5. 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
    ....
  6. 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...
  7. 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...
  8. 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...
  9. ncbi request reprint Recording human globin gene variation
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus MC, Rotterdam, The Netherlands
    Hemoglobin 28:v-vii. 2004
  10. pmc Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Nucleic Acids Res 32:D537-41. 2004
    ..It also expands the capacity to view and analyze the data, using tools within GALA and the University of California at Santa Cruz (UCSC) Genome Browser...
  11. 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...
  12. doi request reprint The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot
    Angelos Kalamaras
    Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
    Hemoglobin 32:572-81. 2008
    ....
  13. 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...
  14. doi request reprint Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion
    Maria Satra
    Department of Biology and Genetics, University of Thessalia, Larissa, Greece
    Pharmacogenomics 12:195-203. 2011
    ..4329_4330insG; rs34857375), β-fibrinogen -455G>A (FGB:c.4577G>A; rs1800790) and Factor XIII (F13A1:c.103G>T; rs5985) on myocardial perfusion...
  15. ncbi request reprint Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country
    Maria Samara
    Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
    Am J Hematol 82:634-6. 2007
    ..Our data indicate that determination of mutation frequencies in different regions is vital for accurate provision of genetic services and counseling and for precise estimation of genetic diversity...
  16. 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
    ....
  17. doi request reprint Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imaging
    Panagiotis Georgoulias
    Department of Nuclear Medicine, School of Medicine, University of Thessaly, University Hospital of Larissa, Larissa, Greece
    J Hum Genet 54:595-602. 2009
    ..219T alleles...
  18. 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
    ....
  19. doi 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
    ....
  20. 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
    ....
  21. doi request reprint 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
    ....
  22. doi 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...
  23. ncbi request reprint High frequency of concomitant nm23-H1 and E-cadherin transcriptional inactivation in primary non-inheriting colorectal carcinomas
    George A Garinis
    Nursing Military Academy, Laboratory of Research, Athens, Greece
    J Mol Med (Berl) 81:256-63. 2003
    ..Nm23-H1 may therefore play an important role in suppressing the early steps of metastasis in sporadic cases of colorectal carcinomas...
  24. 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...
  25. 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
    ....
  26. 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...
  27. 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...
  28. ncbi request reprint Isolation and characterization of hematopoietic transcription factor complexes by in vivo biotinylation tagging and mass spectrometry
    Frank Grosveld
    Department of Cell Biology, Erasmus University Medical Center, 50 Dr Molewaterplein, 3015 GE Rotterdam, The Netherlands
    Ann N Y Acad Sci 1054:55-67. 2005
    ..Last, we are in the process of applying the same technology to characterize the factors that are bound to the suppressed gamma-globin promoter in vivo...
  29. pmc Multiple interactions between regulatory regions are required to stabilize an active chromatin hub
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, 3000 DR, The Netherlands
    Genes Dev 18:1495-509. 2004
    ..We conclude that multiple interactions between the LCR and the beta-globin gene are required to maintain the appropriate spatial configuration in vivo...
  30. pmc A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F
    Zhiyi Chen
    Center of Excellence in Sickle Cell Disease, Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Mol Cell Biol 28:4386-93. 2008
    ..The T-to-G mutation in this motif disrupts GATA-1 binding and the associated repressor complex, abolishing its silencing effect and resulting in the up-regulation of gamma-globin gene expression in adults...
  31. ncbi request reprint Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype
    George P Patrinos
    Laikon General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece
    Am J Hematol 80:79-80. 2005
    ..Being absent from North American beta(S)/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the beta(S)/Benin haplotype...
  32. ncbi request reprint The cypriot and Iranian National Mutation Frequency Databases
    Marina Kleanthous
    The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Social Welfare and Rehabilitation Sciences University, Tehran, Iran
    Hum Mutat 27:598-9. 2006
    ....
  33. ncbi request reprint A versatile denaturing HPLC approach for human beta-globin gene mutation screening
    Stavros N Bournazos
    Locus Medicus, Athens, Greece
    Am J Hematol 82:168-70. 2007
    ..Compared to classical mutation screening approaches, our DHPLC approach provides the means for rapid, highly sensitive, cost-effective, and semi-automated simultaneous mutational scanning of a large number of samples...
  34. ncbi request reprint HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
    Belinda Giardine
    The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, Pennsylvania, USA
    Hum Mutat 28:206. 2007
    ....
  35. ncbi request reprint Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Ramat Gan, Israel
    Hum Mutat 28:944-9. 2007
    ..The Israeli NEMDB is a useful user-friendly and extendable online resource for genetic services in Israel, while the modified version of the ETHNOS software can be particularly useful for similar projects in other populations...
  36. ncbi request reprint A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes
    Manoussos N Papadakis
    Prenatal Diagnosis Unit, Center for Thalassemia, Laikon General Hospital, 16 Sevastoupoleos Street, Ampelokipi, 11526 Athens, Greece
    J Mol Med (Berl) 80:243-7. 2002
    ....
  37. ncbi request reprint PhenCode: connecting ENCODE data with mutations and phenotype
    Belinda Giardine
    Center for Comparative Genomics and Bioinformatics, Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania 16802, USA
    Hum Mutat 28:554-62. 2007
    ..We present several examples illustrating the power of these connections for exploring phenotypes associated with functional elements, and for identifying genomic data that could help to explain clinical phenotypes...
  38. ncbi request reprint Hypermethylation-associated transcriptional silencing of E-cadherin in primary sporadic colorectal carcinomas
    George A Garinis
    Nursing Military Academy, Laboratory of Research, Athens, Greece
    J Pathol 198:442-9. 2002
    ....
  39. doi request reprint Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia
    Angelos Kalamaras
    Am J Hematol 83:760. 2008
  40. ncbi request reprint An overview of current microarray-based human globin gene mutation detection methods
    Laura Cremonesi
    Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
    Hemoglobin 31:289-311. 2007
    ....
  41. ncbi request reprint Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene
    Panayiotis G Menounos
    Nursing Military Academy, Laboratory of Research, Athens, Greece
    J Clin Lab Anal 17:90-2. 2003
    ..We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus...
  42. ncbi request reprint Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro]
    Georgia Christopoulou
    Locus Medicus Laboratory, Athens, Greece
    Hemoglobin 28:339-42. 2004
    ..Moreover, the proposed NlaVI restriction enzyme-based detection of Hb Crete at the DNA level is a fast and accurate approach, useful for molecular diagnostics...
  43. ncbi request reprint Gene conversion: mechanisms, evolution and human disease
    Jian Min Chen
    INSERM, U613, 29220 Brest, France
    Nat Rev Genet 8:762-75. 2007
    ....