Πλοήγηση ανά Συγγραφέα "Patrinos, G. P."
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The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot
Kalamaras, A.; Chassanidis, C.; Samara, M.; Chiotoglou, I.; Vamvakopoulos, N. K.; Papadakis, M. N.; Kollia, P.; Patrinos, G. P. (2008)The human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of ... -
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the A gamma-158 C > T mutation in gamma-globin gene transcription
Kollia, P.; Kalamaras, A.; Chassanidis, C.; Samara, M.; Vamvakopoulos, N. K.; Radmilovic, M.; Pavlovic, S.; Papadakis, M. N.; Patrinos, G. P. (2008) -
Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and delta beta-thalassemia
Kalamaras, A.; Chassanidis, C.; Samara, M.; Papadakis, M. N.; Vagena, A.; Aleporou-Marinou, V.; Patrinos, G. P.; Kollia, P. (2008) -
Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype
Patrinos, G. P.; Samperi, P.; Nigro, L. I.; Kollia, P.; Schiliro, G.; Papadakis, M. N. (2005)There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at ... -
HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations: 2007 Update
Giardine, B.; van Baal, S.; Kaimakis, P.; Riemer, C.; Miller, W.; Samara, M.; Kollia, P.; Anagnou, N. P.; Chui, D. H. K.; Wajcman, H.; Hardison, R. C.; Patrinos, G. P. (2007)HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants ... -
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G > T) in the HBG2 gene promoter
Chassanidis, C.; Kalamaras, A.; Phylactides, M.; Pourfarzad, F.; Likousi, S.; Maroulis, V.; Papadakis, M. N.; Vamvakopoulos, N. K.; Aleporou-Marinou, V.; Patrinos, G. P.; Kollia, P. (2009)Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal ... -
Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imaging
Georgoulias, P.; Wozniak, G.; Samara, M.; Chiotoglou, I.; Kontos, A.; Tzavara, C.; Valotassiou, V.; Georgitsi, M.; Aleporou-Marinou, V.; Patrinos, G. P.; Kollia, P. (2009)Coronary artery disease is associated with multiple genetic and environmental risk factors. In this study, we evaluated the correlation of angiotensin l-converting enzyme (ACE) (I/D) and ApoE gene polymorphisms (E2, E3, ... -
Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1
Papachatzopoulou, A.; Kaimakis, P.; Pourfarzad, F.; Menounos, P. G.; Evangelakou, P.; Kollia, P.; Grosveld, F. G.; Patrinos, G. P. (2007)We report a novel set of genetic markers in the DNasel hypersensitive sites comprising the human P-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH ... -
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country
Samara, M.; Chiotoglou, I.; Kalamaras, A.; Likousi, S.; Chassanidis, C.; Vagena, A.; Vagenas, C.; Eftichiadis, E.; Vamvakopoulos, N.; Patrinos, G. P.; Kollia, P. (2007)We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated beta-thalassemia patients and alpha-, beta-, and delta ... -
Molecular diagnosis of inherited disorders: Lessons from hemoglobinopathies
Patrinos, G. P.; Kollia, P.; Papadakis, M. N. (2005)Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and ... -
Novel Sequence Variations in the CER1 Gene Are Strongly Associated with Low Bone Mineral Density and Risk of Osteoporotic Fracture in Postmenopausal Women
Koromila, T.; Dailiana, Z.; Samara, S.; Chassanidis, C.; Tzavara, C.; Patrinos, G. P.; Aleporou-Marinou, V.; Kollia, P. (2012)Osteoporosis is a common skeletal disease characterized by a combination of low bone mass and increased fragility. In this case-control study, we investigated the possible association of two novel candidate genes, CER1 and ... -
Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion
Satra, M.; Samara, M.; Wosniak, G.; Tzavara, C.; Kontos, A.; Valotassiou, V.; Vamvakopoulos, N. K.; Tsougos, I.; Aleporou-Marinou, V.; Patrinos, G. P.; Kollia, P.; Georgoulias, P. (2011)Aims: Coronary artery disease (CAD) is a significant cause of morbidity and mortality in modern societies. The association between genetic markers and CAD is still poorly understood. In this study, we evaluated the effect ...