Search Results - "M. Kleanthous"

Oxidative stress in β-thalassaemia and sickle cell disease by Voskou, S, Aslan, M, Fanis, P, Phylactides, M, Kleanthous, M

“…Sickle cell disease and β-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the β-globin chain. These changes…”
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Measurement of lentiviral vector titre and copy number by cross-species duplex quantitative PCR by Christodoulou, I, Patsali, P, Stephanou, C, Antoniou, M, Kleanthous, M, Lederer, C W

“…Lentiviruses are the vectors of choice for many preclinical studies and clinical applications of gene therapy. Accurate measurement of biological vector titre…”
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Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect by Fanis, P., Skordis, N., Frangos, S., Christopoulos, G., Spanou-Aristidou, E., Andreou, E., Manoli, P., Mavrommatis, M., Nicolaou, S., Kleanthous, M., Cariolou, M. A., Christophidou-Anastasiadou, V., Tanteles, G. A., Phylactou, L. A., Neocleous, V.

“…Purpose Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed…”
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5610480 TRANSFORMATION OF THALASSAEMIA GENETIC TESTING BY THE IMPLEMENTATION OF NGS‐BASED THALASSEMIA ASSAY by Papasavva, T., Christopoulos, G., Petrou, M., Feleki, X., Karitzi, E., Byrou, S., Haughey, C., Vanherberghen, B., Ahlford, A., Kleanthous, M.

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P128: ITHANET: AN INFORMATION AND DATABASE COMMUNITY PORTAL FOR HAEMOGLOBINOPATHIES by Minaidou, A, Stephanou, C, Tamana, S, Xenophontos, M, Lederer, C, Kountouris, P, Kleanthous, M

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5610939 RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP) by Colombatti, R., Gutiérrez‐Valle, V., Diot‐Lefebvre, C., Labidi, I., Boaro, M.P., Tamana, S., Kountouris, P., Kleanthous, M., Gulbis, B., Mañú‐Pereira, M.M.

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PI‐07: THE INTERNATIONAL HEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HEMOGLOBINOPATHIES by P., KOUNTOURIS, C., STEPHANOU, N., ARCHER, F., BONIFAZI, V., GIANNUZZI, K., KUO, A., MAGGIO, J., MAKANI, M., MAÑÚ PEREIRA, K., MICHAILIDOU, S., NKYA, O., NNODU, S., TROMPETER, L., TSHILOLO, A., WONKAM, B., ZILFALIL, B., INUSA, M., KLEANTHOUS

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P1481: THE INTERNATIONAL HEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HEMOGLOBINOPATHIES by Kountouris, P., Stephanou, C., Archer, N., Bonifazi, F., Giannuzzi, V., Kuo, K., Maggio, A., Makani, J., Mañú Pereira, M. D. M., Michailidou, K., Nkya, S. W., Nnodu, O., Trompeter, S., Tshilolo, L., Wonkam, A., Zilfalil, B. A., Inusa, B., Kleanthous, M.

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P117: THE INTERNATIONAL HAEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HAEMOGLOBINOPATHIES by Kountouris, P, Stephanou, C, Archer, N, Bonifazi, F, Giannuzzi, V, Kuo, K, Maggio, A, Makani, J, Mañú Pereira, M, Michailidou, K, Nkya, S, Nnodu, O, Trompeter, S, Tshilolo, L, Wonkam, A, Zilfalil, B, Inusa, B, Kleanthous, M

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P10 Preimplantation genetic diagnosis for the first family with Tay–Sachs disease in Cyprus by Christopoulos, G, Georgiou, T, Anastasiadou, V, Spanou, E, Mavrikiou, G, Drousiotou, A, Kleanthous, M

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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL by Coralea Stephanou, C, Petros Kountouris, P, Carsten W Lederer, C, Celeste Bento, C, Cornelis L Hartveld, C, Jan Traeger‐Synodinos, J, John S Waye, J, Zhiyu Peng, Z, Irene Fylaktou, I, Hashim Halim‐Fikri, H, Tamara T. Koopmann, T, Landry Nfonsam, L, Jun Sun, J, Franck Nzengu‐Lukusa, F, Michael Angastiniotis, M, Catherine Badens, C, Bertha Ibarra Cortes, B, Johan T. den Dunnen, J, Jacques Elion, J, Suthat Fucharoen, S, Kyriaki Michailidou, K, Thessalia Papasavva, T, Antonio Piga, A, Raj Ramesar, R, Swee Lay Thein, S, Léon Tshilolo, L, Zilfalil Bin Alwi, Z, Marina Kleanthous, M

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alpha-Thalassaemia in the population of Cyprus by Baysal, E, Kleanthous, M, Bozkurt, G, Kyrri, A, Kalogirou, E, Angastiniotis, M, Ioannou, P, Huisman, T H

“…We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek…”
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Molecular Characterization of β-Thalassemia in Syria by Kyriacou, K., Quobaili, F. Al, Pavlou, E., Christopoulos, G., Ioannou, P., Kleanthous, M.

“…This study concerns the determination of β-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes…”
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Hb Bart's Levels in Cord Blood and α-Thalassemia Mutations in Cyprus by Kyriacou, K., Kyrri, A., Kalogirou, E., Vasiliades, Ph, Angastiniotis, M., Ioannou, P. A., Kleanthous, M.

“…The purpose of this study was to examine the frequency of α-thalassemia in the population of Cyprus using cord blood samples. The levels of Hb Bart's were…”
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Alpha-thalassaemia prenatal diagnosis by two PCR-based methods by Kleanthous, M., Kyriacou, K., Kyrri, A., Kalogerou, E., Vassiliades, PH, Drousiotou, A., Kallikas, I., Ioannou, P., Angastiniotis, M.

“…In Cyprus all couples carrying α0‐thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is…”
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PF785 CHANGING CAUSES OF MORTALITY IN TDT DURING THE ERA OF ORAL CHELATION THERAPY FROM 2000 TO 2018 by Telfer, P., Kountouris, P., Christou, S., Hadjigavriel, M., Sitarou, M., Kolnagou, A., Kleanthous, M.

“…Background: Heart disease due to transfusion iron overload has been previously reported as the predominant cause of death in transfusion dependent thalassaemia…”
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Recent trends in the gene therapy of β-thalassemia by Finotti, Alessia, Breda, Laura, Lederer, Carsten W, Bianchi, Nicoletta, Zuccato, Cristina, Kleanthous, Marina, Rivella, Stefano, Gambari, Roberto

“…The β-thalassemias are a group of hereditary hematological diseases caused by over 300 mutations of the adult β-globin gene. Together with sickle cell anemia,…”
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P117: THE INTERNATIONAL HAEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HAEMOGLOBINOPATHIES by Kountouris, P, Stephanou, C, Archer, N, Bonifazi, F, Giannuzzi, V, Kuo, K, Maggio, A, Makani, J, Mañú Pereira, M, Michailidou, K, Nkya, S, Nnodu, O, Trompeter, S, Tshilolo, L, Wonkam, A, Zilfalil, B, Inusa, B, Kleanthous, M

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Novel polymorphisms at codons 146 and 151 in the prion protein gene of Cyprus goats, and their association with natural scrapie by Papasavva-Stylianou, Penelope, Kleanthous, Marina, Toumazos, Pavlos, Mavrikiou, Petroula, Loucaides, Phedias

“…To discern whether an association exists between specific combinations of polymorphisms of the prion protein (PrP) and natural scrapie in Cyprus goats, 250…”
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PB2285 RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM by Valle, V. Gutierrez, Pereira, M. D. M. Mañú, Kleanthous, M., Kountouris, P., Tamana, S., Colombatti, R., Bianchi, P., Beers, E., Gulbis, B.

“…Background: Rare anaemia (RA) includes a highly heterogeneous group of rare and ultra‐rare haematological conditions. The numbers of RA patients included in…”
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