Výsledky vyhledávání - "Metaxotou, C."

Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol

Autor: Kekou, K. Fryssira, H. Sophocleous, C. Mavrou, A. Manta, P. Metaxotou, C.

Although the facioscapulohumeral muscular dystrophy (FSHD) locus was mapped to 4q35 chromosomal region in 1990, no gene transcript has been as yet identified. Molecular diagnosis is based mainly on the detection of deletions of a 3.3 kb-tandem repeat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::cabdada6f2205e1ec3c3bbdc564c288c
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095733

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De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

Autor: Papagrigorakis, MJ Synodinos, PN Daliouris, CP Metaxotou, C

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::da077f449a64c0946b4f0bf57c832a49
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3084252

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Identification of fetal nucleated red blood cells in the maternal circulation during pregnancy using anti-hemoglobin-epsilon antibody

Autor: Mavrou, A Kolialexi, A Antsaklis, A Korantzis, A and Metaxotou, C

Aim: To investigate the use of anti-hemoglobin-epsilon, antibody in order to identify fetal cells in the maternal circulation during pregnancy. Materials and Methods: 48 blood samples were obtained from pregnant women, 26 in the 1st trimester and 22

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::a2b4cd46365f74ded6511e0f240fb29b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3084275

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Efficiency of interphase fluorescence in situ hybridization for BCR/ABL on peripheral blood smears for monitoring of CML patients: a comparison with bone marrow findings

Autor: Akel, S Kolialexi, A Mavrou, A Metaxotou, C Loukopoulos, D Yataganas, X

Conventional cytogenetic analysis (CCA) is the standard method for monitoring of the Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of breakpoint cluster region/abelson murine leukemia (BCR/ABL) fusion using interphase flu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::e6542d1bfa894176d9d6140d3832e80b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3082653

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Evaluation at single cell level of residual Philadelphia negative hemopoietic stem cells in chronic phase CML patients

Autor: Akel, S Kolialexi, A Mavrou, A Metaxotou, C Loukopoulos, D Yataganas, X

In chronic myeloid leukemia, accurate determination of Ph- Hemopoietic stem cells (HSC) in peripheral blood (PB), bone marrow (BM) and leukapheresis products is important for the selection of patients for whom mobilization, collection, and autografti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::c3a7c472912d5e43ccb3a70a75996ba1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053989

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Identification of three polymorphisms in the dystrophin gene

Autor: Kekou, K Mavrou, A Sofocleous, C Metaxotou, C

Three polymorphisms were identified in the dystrophin gene using the polymerase chain reaction (PCR) and single strand conformation analysis (SSCA). Two of them tin intron 3) were reported for the first time while the third (in intron 43) is of inter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::58de9f5114daa68e16cbbf71f80252a1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3052564

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Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

Autor: Kekou, K Mavrou, A Florentin, L Youroukos, S Zafiriou, DI Skouteli, HN Metaxotou, C

The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients,vith m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::a9f801dc98d36c4daa55558bdf004220
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3051444

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Improved specificity of NRBC detection in chorionic villus sample supernatant fluids using anti-zeta and anti-epsilon monoclonal antibodies

Autor: Mavrou, A Kolialexi, A Zheng, YL Metaxotou, C Bianchi, DW

Objective: Fetal erythrocytes leak from fetal capillaries at the time of chorionic villus sampling (CVS). it has been reported that in approximately 60% of CVS cases fetal nucleated red blood cells (NRBC) can be isolated from the supernatant fluid by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::d8877a1de1b8dfa36ed2d02e70fbed3e
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3052175

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