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Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

Autor: Tsipi, M. Tzetis, M. Kosma, K. Moschos, M. Braoudaki, M. Poulou, M. Kanavakis, E. Kitsiou-Tzeli, S.

Background: Retinal dystrophies are a clinically and genetically heterogeneous group of disorders which affect more than two million people worldwide. The present study focused on the role of the ABCA4 gene in the pathogenesis of hereditary retinal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::f7d595b6b09d7c2fb3dddf7b72ed80d6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087210

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The role of basophil activation test in allergic bronchopulmonary aspergillosis and Aspergillus fumigatus sensitization in cystic fibrosis patients

Autor: Katelari, A. Tzanoudaki, M. Noni, M. Kanariou, M. Theodoridou, M. Kanavakis, E. Doudounakis, S.-E. Kanaka-Gantenbein, C.

Background Allergic bronchopulmonary aspergillosis (ABPA) and Aspergillus fumigatus sensitization (AFS) are quite often observed in cystic fibrosis (CF) patients. The aim of this study was to evaluate the use of basophil activation test (BAT) in thes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::d05806b40b9341d7d178ceda2da65f23
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3100908

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Plasma immunoreactive endothelin levels in children with cystic fibrosis

Autor: S Doudounakis, Tania Siahanidou, Anastasios Papadimitriou, E Georgouli, Th. Karpathios, M Kanavakis, P Nikolaidou

Publikováno v: Acta Paediatrica. 89:915-920

UNLABELLED Plasma immunoreactive endothelin levels were determined in 31 children and adolescents with cystic fibrosis and it was examined whether these levels correlated with the severity of the disease. The study comprised 16 cystic fibrosis patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e791c6891eb4daa59748fc2d4fe02282
https://doi.org/10.1111/j.1651-2227.2000.tb00407.x

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Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene

Autor: Amvrosiadou, M. Petropoulou, M. Poulou, M. Tzetis, M. Kanavakis, E. Christopoulos, T.K. Ioannou, P.C.

Wilson's disease is an inherited disorder of copper transport in the hepatocytes with a wide range of genotype and phenotype characteristics. Mutations in the ATP7B gene are responsible for the disease. Approximately, over 500 mutations in the ATP7B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::b4e92d0835a83a79b6e0d2b3e3fcf6cf
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3026500

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A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome

Autor: Settas, N. Anapliotou, M. Kanavakis, E. Fryssira, H. Sofocleous, C. Dacou-Voutetakis, C. Chrousos, G.P. Voutetakis, A.

Objective: This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods: This study reports on the case of a woman with POI, BPE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::1b9fce37e30ecfb28630b0fd55ff3d3c
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3124888

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A novel α 0-thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

Autor: Phylipsen, M. Traeger-Synodinos, J. van der Kraan, M. van Delft, P. Bakker, G. Geerts, M. Kanavakis, E. Stamoulakatou, A. Karagiorga, M. Giordano, P.C. Harteveld, C.L.

Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait. Methods: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::87ce8fb7a4fff4ecc5b057b8f8ba88af
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3128856

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Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

Autor: Poulou, M. Fylaktou, I. Fotoulaki, M. Kanavakis, E. Tzetis, M.

Background: The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::62b2f618a2923c8154ba617e90a3f9f9
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111098

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Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene

Autor: Litos, I.K. Ioannou, P.C. Christopoulos, T.K. Tzetis, M. Kanavakis, E. Traeger-Synodinos, J.

Background: Toll-like receptor-4 (TLR4) is a central regulators of innate immune response as it interacts with bacterial lipopolysaccharide (LPS) and also with endogenous molecules, such as heat-shock proteins and fibrinogen. Two common single nucleo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::ede61639f8f200ea10c8ed6e64739989
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090537

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