Parcourir par auteur "Papadakis, M. N."
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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 ... -
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 ... -
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 ...