Πλοήγηση ανά Θέμα "mutations"

Dissemination of two international linezolid-resistant Staphylococcus epidermidis clones in Greek hospitals

Liakopoulos, A.; Spiliopoulou, I.; Damani, A.; Kanellopoulou, M.; Schoina, S.; Papafragas, E.; Marangos, M.; Fligou, F.; Zakynthinos, E.; Makris, D.; Protonotariou, E.; Tsiapara, F.; Filos, K.; Diza, E.; Anastassiou, E. D.; Petinaki, E. (2010)

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 ...

Mitochondrial tRNA mutations - Clinical and functional perturbations

Zifa, E.; Giannouli, S.; Theotokis, P.; Stamatis, O.; Mamuris, Z.; Stathopoulos, C. (2007)

During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes ...

A novel mutation of the hGR gene causing Chrousos syndrome

Nicolaides, N. C.; Geer, E. B.; Vlachakis, D.; Roberts, M. L.; Psarra, A. M. G.; Moutsatsou, P.; Sertedaki, A.; Kossida, S.; Charmandari, E. (2015)

Background Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. Objective ...

Retrospective molecular and phenotypic analysis of poliovirus vaccine strains isolated in Greece

Pliaka, V.; Filliponi, M. E.; Kyriakopoulou, Z.; Ruether, I. G. A.; Tsakogiannis, D.; Gartzonika, C.; Levidiotou-Stefanou, S.; Markoulatos, P. (2011)

The live oral poliovirus vaccine (OPV) strains are genetically unstable, causing, in rare cases, vaccine-associated paralytic poliomyelitis. Reversions of the known attenuating mutations in OPV strains and intertypic ...

Risks associated with the use of live-attenuated vaccine poliovirus strains and the strategies for control and eradication of paralytic poliomyelitis

Pliaka, V.; Kyriakopoulou, Z.; Markoulatos, P. (2012)

The Global Polio Eradication Initiative was launched in 1988 with the aim to eliminate paralytic poliomyelitis. Two effective vaccines are available: inactivated polio vaccine (IPV) and oral polio vaccine (OPV). Since 1964, ...

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

Xiromerisiou, G.; Houlden, H.; Scarmeas, N.; Stamelou, M.; Kara, E.; Hardy, J.; Lees, A. J.; Korlipara, P.; Limousin, P.; Paudel, R.; Hadjigeorgiou, G. M.; Bhatia, K. P. (2012)

THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...

Use of mutational pattern in 5 '-NCR and VP1 regions of polioviruses for molecular diagnosis

Pliaka, V.; Dedepsidis, E.; Kyriakopoulou, Z.; Papadopoulou, I.; Levidiotou, S.; Markoulatos, P. (2007)

Polioviruses are members of the enterovirus genus, belonging to the Picornaviridae family. They are the causative agents of poliomyelitis, a paralytic and sometimes fatal disease in humans. The number of poliomyelitis cases ...