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Emmanouil Kanavakis
Emmanouil Kanavakis
Verified email at med.uoa.gr
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Year
Dating the origin of the CCR5-Ä32 AIDS-resistance allele by the coalescence of haplotypes
JC Stephens, DE Reich, DB Goldstein, HD Shin, MW Smith, M Carrington, ...
The American Journal of Human Genetics 62 (6), 1507-1515, 1998
6891998
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ...
The American Journal of Human Genetics 74 (1), 176-179, 2004
2892004
Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing
P Galanos, K Vougas, D Walter, A Polyzos, A Maya-Mendoza, ...
Nature cell biology 18 (7), 777-789, 2016
2782016
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
F Pagani, C Stuani, M Tzetis, E Kanavakis, A Efthymiadou, ...
Human molecular genetics 12 (10), 1111-1120, 2003
2482003
Androgen insensitivity syndrome: clinical features and molecular defects
A Galani, S Kitsiou-Tzeli, C Sofokleous, E Kanavakis, A Kalpini-Mavrou
Hormones 7 (3), 217-229, 2008
2372008
CFTR gene mutations – including three novel nucleotide substitutions – and haplotype background in patients with asthma, disseminated bronchiectasis and …
M Tzetis, A Efthymiadou, S Strofalis, P Psychou, A Dimakou, E Pouliou, ...
Human genetics 108, 216-221, 2001
2292001
Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of â-thalassaemia: a pilot study
G Kokkali, J Traeger-Synodinos, C Vrettou, D Stavrou, GM Jones, ...
Human Reproduction 22 (5), 1443-1449, 2007
2052007
Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
KJ Swoboda, E Kanavakis, A Xaidara, JE Johnson, MF Leppert, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
2042004
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ...
Nature genetics 43 (4), 295-301, 2011
1842011
Dramatic elevations of interleukin-6 and acute-phase reactants in athletes participating in the ultradistance foot race spartathlon: severe systemic inflammation and lipid and …
A Margeli, K Skenderi, M Tsironi, E Hantzi, AL Matalas, C Vrettou, ...
The Journal of Clinical Endocrinology & Metabolism 90 (7), 3914-3918, 2005
1822005
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
T Dörk, M Macek Jr, F Mekus, B Tümmler, J Tzountzouris, T Casals, ...
Human genetics 106, 259-268, 2000
1692000
Longitudinal study of survival and causes of death in patients with thalassemia major in Greece
V Ladis, G Chouliaras, H Berdousi, E Kanavakis, C Kattamis
Annals of the New York Academy of Sciences 1054 (1), 445-450, 2005
1622005
Rapid screening of multiple â-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes
C Vrettou, J Traeger-Synodinos, M Tzetis, G Malamis, E Kanavakis
Clinical chemistry 49 (5), 769-776, 2003
1372003
Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience
E Kanavakis, I Papassotiriou, M Karagiorga, C Vrettou, ...
British journal of haematology 111 (3), 915-923, 2000
1302000
Thalassaemia intermedia in Cyprus: the interaction of á and â thalassaemia
JS Wainscoat, E Kanavakis, WG Wood, EA Letsky, ER Huehns, ...
British journal of haematology 53 (3), 411-416, 1983
1271983
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population
AJ Stratigos, G Dimisianos, V Nikolaou, M Poulou, V Sypsa, I Stefanaki, ...
Journal of Investigative Dermatology 126 (8), 1842-1849, 2006
1262006
Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of â-thalassaemia major: case report
G Kokkali, C Vrettou, J Traeger-Synodinos, GM Jones, DS Cram, ...
Human Reproduction 20 (7), 1855-1859, 2005
1262005
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant–antioxidant status
A Gizi, I Papassotiriou, F Apostolakou, C Lazaropoulou, M Papastamataki, ...
Blood Cells, Molecules, and Diseases 46 (3), 220-225, 2011
1252011
The lysine‐specific methyltransferase KMT 2C/MLL 3 regulates DNA repair components in cancer
T Rampias, D Karagiannis, M Avgeris, A Polyzos, A Kokkalis, Z Kanaki, ...
EMBO reports 20 (3), e46821, 2019
1222019
Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
E Panagiotakaki, M Tzetis, N Manolaki, G Loudianos, A Papatheodorou, ...
American Journal of Medical Genetics Part A 131 (2), 168-173, 2004
1222004
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