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Page 1
Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.
Zachaki S, Kouvidi E, Pantou A, Tsarouha H, Mitrakos A, Tounta G, Charalampous I, Manola KN, Kanavakis E, Mavrou A. Zachaki S, et al. Among authors: kanavakis e. In Vivo. 2020 May-Jun;34(3):1433-1437. doi: 10.21873/invivo.11925. In Vivo. 2020. PMID: 32354942 Free PMC article.
The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.
Pantou A, Mitrakos A, Kokkali G, Petroutsou K, Tounta G, Lazaros L, Dimopoulos A, Sfakianoudis K, Pantos K, Koutsilieris M, Mavrou A, Kanavakis E, Tzetis M. Pantou A, et al. Among authors: kanavakis e. J Assist Reprod Genet. 2022 Jun;39(6):1341-1349. doi: 10.1007/s10815-022-02461-9. Epub 2022 Mar 25. J Assist Reprod Genet. 2022. PMID: 35338417 Free PMC article.
RASSF1A in maternal plasma as a molecular marker of preeclampsia.
Papantoniou N, Bagiokos V, Agiannitopoulos K, Kolialexi A, Destouni A, Tounta G, Kanavakis E, Antsaklis A, Mavrou A. Papantoniou N, et al. Among authors: kanavakis e. Prenat Diagn. 2013 Jul;33(7):682-7. doi: 10.1002/pd.4093. Epub 2013 Mar 22. Prenat Diagn. 2013. PMID: 23526657
Screening of UBE3A gene in patients referred for Angelman Syndrome.
Tzagkaraki E, Sofocleous C, Fryssira-Kanioura H, Dinopoulos A, Goulielmos G, Mavrou A, Kitsiou-Tzeli S, Kanavakis E. Tzagkaraki E, et al. Among authors: kanavakis e. Eur J Paediatr Neurol. 2013 Jul;17(4):366-73. doi: 10.1016/j.ejpn.2012.12.010. Epub 2013 Feb 14. Eur J Paediatr Neurol. 2013. PMID: 23416059
A clinical study of Sotos syndrome patients with review of the literature.
Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. Leventopoulos G, et al. Among authors: kanavakis e. Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Pediatr Neurol. 2009. PMID: 19380072 Review.
Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.
Sfougataki I, Grafakos I, Varela I, Mitrakos A, Karagiannidou A, Tzannoudaki M, Poulou M, Mertzanian A, Roubelakis G M, Stefanaki K, Traeger-Synodinos J, Kanavakis E, Kitra V, Tzetis M, Goussetis E. Sfougataki I, et al. Among authors: kanavakis e. Blood Cells Mol Dis. 2019 May;76:32-39. doi: 10.1016/j.bcmd.2019.01.003. Epub 2019 Jan 24. Blood Cells Mol Dis. 2019. PMID: 30709626
Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.
Kakourou G, Vrettou C, Kattamis A, Destouni A, Poulou M, Moutafi M, Kokkali G, Pantos K, Davies S, Kitsiou-Tzeli S, Kanavakis E, Traeger-Synodinos J. Kakourou G, et al. Among authors: kanavakis e. Syst Biol Reprod Med. 2016;62(1):69-76. doi: 10.3109/19396368.2015.1100692. Epub 2015 Dec 4. Syst Biol Reprod Med. 2016. PMID: 26636621
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
Kitsiou-Tzeli S, Deligiorgi M, Malaktari-Skarantavou S, Vlachopoulos C, Megremis S, Fylaktou I, Traeger-Synodinos J, Kanaka-Gantenbein C, Stefanadis C, Kanavakis E. Kitsiou-Tzeli S, et al. Among authors: kanavakis e. Hormones (Athens). 2012 Jul-Sep;11(3):361-7. doi: 10.14310/horm.2002.1366. Hormones (Athens). 2012. PMID: 22908070 Free article.
Predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.
Alexioy E, Alexioy E, Trakakis E, Kassanos D, Farmakidis G, Kondylios A, Laggas D, Salamalekis E, Florentin L, Kanavakis E, Basios G, Trompoukis P, Georgiadoy L, Panagiotopoulos T. Alexioy E, et al. Among authors: kanavakis e. J Matern Fetal Neonatal Med. 2009 Oct;22(10):857-62. doi: 10.1080/14767050902994572. J Matern Fetal Neonatal Med. 2009. PMID: 19521928
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Traeger-Synodinos J, et al. Among authors: kanavakis e. Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17. Br J Haematol. 2019. PMID: 31206601 Free article. No abstract available.
Tumor development in three patients with Noonan syndrome.
Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N, Kanavakis E. Fryssira H, et al. Among authors: kanavakis e. Eur J Pediatr. 2008 Sep;167(9):1025-31. doi: 10.1007/s00431-007-0636-3. Epub 2007 Dec 5. Eur J Pediatr. 2008. PMID: 18057963
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Kekou K, Sofocleous C, Papadimas G, Petichakis D, Svingou M, Pons RM, Vorgia P, Gika A, Kitsiou-Tzeli S, Kanavakis E. Kekou K, et al. Among authors: kanavakis e. Mol Cell Probes. 2016 Aug;30(4):254-260. doi: 10.1016/j.mcp.2016.07.001. Epub 2016 Jul 12. Mol Cell Probes. 2016. PMID: 27417533
Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.
Iliadi A, Petropoulou M, Ioannou PC, Christopoulos TK, Anagnostopoulos NI, Kanavakis E, Traeger-Synodinos J. Iliadi A, et al. Among authors: kanavakis e. Anal Chem. 2011 Sep 1;83(17):6545-51. doi: 10.1021/ac200810h. Epub 2011 Aug 9. Anal Chem. 2011. PMID: 21797212
UBE3A, c.1347_1348delGA: a mutation in question.
Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S. Sofocleous C, et al. Among authors: kanavakis e. Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. Clin Chem Lab Med. 2016. PMID: 26457786 No abstract available.
A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.
Kanavakis E, Traeger-Synodinos J, Lafioniatis S, Lazaropoulou C, Liakopoulou T, Paleologos G, Metaxotou-Mavrommati A, Stamoulakatou A, Papassotiriou I. Kanavakis E, et al. Blood Cells Mol Dis. 2004 Mar-Apr;32(2):319-24. doi: 10.1016/j.bcmd.2003.12.005. Blood Cells Mol Dis. 2004. PMID: 15003825
Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels.
Skarmoutsou C, Papassotiriou I, Traeger-Synodinos J, Stamou H, Ladis V, Metaxotou-Mavrommati A, Stamoulakatou A, Kanavakis E. Skarmoutsou C, et al. Among authors: kanavakis e. Haematologica. 2003 Jun;88(6):631-6. Haematologica. 2003. PMID: 12801838
Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.
Papatheodorou A, Latsi P, Vrettou C, Dimakou A, Chroneou A, Makrythanasis P, Kaliakatsos M, Orfanidou D, Roussos C, Kanavakis E, Tzetis M. Papatheodorou A, et al. Among authors: kanavakis e. Clin Biochem. 2007 Aug;40(12):843-50. doi: 10.1016/j.clinbiochem.2007.03.024. Epub 2007 Apr 19. Clin Biochem. 2007. PMID: 17509552
Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.
Stamoulakatou A, Athanasiou-Metaxa M, Traeger-Synodinos J, Lazaropoulou C, Harteveld K, Premetis E, Tsantali H, Zorai A, Giordano P, Papassotiriou I, Kanavakis E. Stamoulakatou A, et al. Among authors: kanavakis e. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):118-23. doi: 10.1016/j.bcmd.2003.10.009. Blood Cells Mol Dis. 2004. PMID: 14757425
Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family.
Papassotiriou I, Stamoulakatou A, Wajcman H, Kister J, Dimisianos G, Lazaropoulou C, Kanavaki I, Vavourakis E, Kattamis A, Kanavakis E, Traeger-Synodinos J. Papassotiriou I, et al. Among authors: kanavakis e. Hemoglobin. 2006;30(4):409-18. doi: 10.1080/03630260600867842. Hemoglobin. 2006. PMID: 16987796
Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations.
Douna V, Papassotiriou I, Metaxotou-Mavrommati A, Stamoulakatou A, Liapi D, Kampourakis D, Tsilimigaki A, Kanavakis E, Traeger-Synodinos J. Douna V, et al. Among authors: kanavakis e. Hemoglobin. 2008;32(4):379-85. doi: 10.1080/03630260802174021. Hemoglobin. 2008. PMID: 18654888
Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J. Douna V, et al. Among authors: kanavakis e. Hemoglobin. 2008;32(6):592-5. doi: 10.1080/03630260802507964. Hemoglobin. 2008. PMID: 19065338
Visual screening for JAK2V617F mutation by a disposable dipstick.
Konstantou JK, Iliadi AC, Ioannou PC, Christopoulos TK, Anagnostopoulos NI, Kanavakis E, Traeger-Synodinos J. Konstantou JK, et al. Among authors: kanavakis e. Anal Bioanal Chem. 2010 Jul;397(5):1911-6. doi: 10.1007/s00216-010-3747-z. Epub 2010 Apr 29. Anal Bioanal Chem. 2010. PMID: 20428846
Proliferative and chondrogenic potential of mesenchymal stromal cells from pluripotent and bone marrow cells.
Sfougataki I, Varela I, Stefanaki K, Karagiannidou A, Roubelakis MG, Kalodimou V, Papathanasiou I, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Kitra V, Tsezou A, Tzetis M, Goussetis E. Sfougataki I, et al. Among authors: kanavakis e. Histol Histopathol. 2020 Dec;35(12):1415-1426. doi: 10.14670/HH-18-259. Epub 2020 Sep 22. Histol Histopathol. 2020. PMID: 32959885
Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.
Papatheodorou A, Makrythanasis P, Kaliakatsos M, Dimakou A, Orfanidou D, Roussos C, Kanavakis E, Tzetis M. Papatheodorou A, et al. Among authors: kanavakis e. Clin Biochem. 2010 Jan;43(1-2):43-50. doi: 10.1016/j.clinbiochem.2009.08.026. Epub 2009 Sep 10. Clin Biochem. 2010. PMID: 19747908
Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
Kattamis A, Delaporta P, Fylaktou I, Vrettou C, Kyriakopoulou D, Stamoulakatou A, Papassotiriou I, Kanavakis E, Traeger-Synodinos J. Kattamis A, et al. Among authors: kanavakis e. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779
Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.
Spiropoulos A, Theodosaki M, Stefanaki K, Paterakis G, Tzetis M, Giannikou K, Petrakou E, Dimopoulou MN, Papassotiriou I, Roma ES, Kanavakis E, Graphakos S, Goussetis E. Spiropoulos A, et al. Among authors: kanavakis e. J Cell Mol Med. 2011 Sep;15(9):1983-8. doi: 10.1111/j.1582-4934.2010.01157.x. J Cell Mol Med. 2011. PMID: 20731745 Free PMC article.
Dramatic elevations of interleukin-6 and acute-phase reactants in athletes participating in the ultradistance foot race spartathlon: severe systemic inflammation and lipid and lipoprotein changes in protracted exercise.
Margeli A, Skenderi K, Tsironi M, Hantzi E, Matalas AL, Vrettou C, Kanavakis E, Chrousos G, Papassotiriou I. Margeli A, et al. Among authors: kanavakis e. J Clin Endocrinol Metab. 2005 Jul;90(7):3914-8. doi: 10.1210/jc.2004-2346. Epub 2005 Apr 26. J Clin Endocrinol Metab. 2005. PMID: 15855262
Trigonocephaly and Wilson's disease in two siblings.
Cogulu O, Onay H, Ozgenc F, Karaca E, Gunduz C, Tzetis M, Cankaya T, Kanavakis E, Ozkinay F. Cogulu O, et al. Among authors: kanavakis e. Clin Dysmorphol. 2005 Jul;14(3):161-164. Clin Dysmorphol. 2005. PMID: 15930910
Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene.
Amvrosiadou M, Petropoulou M, Poulou M, Tzetis M, Kanavakis E, Christopoulos TK, Ioannou PC. Amvrosiadou M, et al. Among authors: kanavakis e. J Chromatogr B Analyt Technol Biomed Life Sci. 2015 Dec 1;1006:201-208. doi: 10.1016/j.jchromb.2015.10.036. Epub 2015 Oct 30. J Chromatogr B Analyt Technol Biomed Life Sci. 2015. PMID: 26580967
Are ALOX5AP gene SNPs a risk or protective factor for stroke?
Papapostolou A, Spengos K, Fylaktou I, Poulou M, Gountas I, Kitsiou-Tzeli S, Kanavakis E, Tzetis M. Papapostolou A, et al. Among authors: kanavakis e. Gene. 2014 Sep 10;548(1):56-60. doi: 10.1016/j.gene.2014.07.007. Epub 2014 Jul 8. Gene. 2014. PMID: 25010723
Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells.
Karagiannidou A, Varela I, Giannikou K, Tzetis M, Spyropoulos A, Paterakis G, Petrakou E, Theodosaki M, Goussetis E, Kanavakis E. Karagiannidou A, et al. Among authors: kanavakis e. Cell Reprogram. 2014 Feb;16(1):1-8. doi: 10.1089/cell.2013.0040. Epub 2013 Dec 31. Cell Reprogram. 2014. PMID: 24380659 Clinical Trial.
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: kanavakis e. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
Therapeutic Effects of Mesenchymal Stem Cells Derived From Bone Marrow, Umbilical Cord Blood, and Pluripotent Stem Cells in a Mouse Model of Chemically Induced Inflammatory Bowel Disease.
Kagia A, Tzetis M, Kanavakis E, Perrea D, Sfougataki I, Mertzanian A, Varela I, Dimopoulou A, Karagiannidou A, Goussetis E. Kagia A, et al. Among authors: kanavakis e. Inflammation. 2019 Oct;42(5):1730-1740. doi: 10.1007/s10753-019-01033-x. Inflammation. 2019. PMID: 31227956
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Lederer CW, Basak AN, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, Fattoum S, Felice AE, Fibach E, Galanello R, Gambari R, Gavrila L, Giordano PC, Grosveld F, Hassapopoulou H, Hladka E, Kanavakis E, Locatelli F, Old J, Patrinos GP, Romeo G, Taher A, Traeger-Synodinos J, Vassiliou P, Villegas A, Voskaridou E, Wajcman H, Zafeiropoulos A, Kleanthous M. Lederer CW, et al. Among authors: kanavakis e. Hemoglobin. 2009;33(3):163-76. doi: 10.1080/03630260903089177. Hemoglobin. 2009. PMID: 19657830
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: kanavakis e. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
A simplified approach for FSHD molecular testing.
Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC. Papanikos F, et al. Among authors: kanavakis e. Clin Chim Acta. 2014 Feb 15;429:96-103. doi: 10.1016/j.cca.2013.11.032. Epub 2013 Dec 7. Clin Chim Acta. 2014. PMID: 24321734
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant-antioxidant status.
Gizi A, Papassotiriou I, Apostolakou F, Lazaropoulou C, Papastamataki M, Kanavaki I, Kalotychou V, Goussetis E, Kattamis A, Rombos I, Kanavakis E. Gizi A, et al. Among authors: kanavakis e. Blood Cells Mol Dis. 2011 Mar 15;46(3):220-5. doi: 10.1016/j.bcmd.2011.01.002. Epub 2011 Feb 22. Blood Cells Mol Dis. 2011. PMID: 21334230
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.
Goussetis E, Peristeri I, Kitra V, Traeger-Synodinos J, Theodosaki M, Psarra K, Kanariou M, Tzortzatou-Stathopoulou F, Petrakou E, Fylaktou I, Kanavakis E, Graphakos S. Goussetis E, et al. Among authors: kanavakis e. J Allergy Clin Immunol. 2010 Aug;126(2):392-4. doi: 10.1016/j.jaci.2010.05.005. Epub 2010 Jul 2. J Allergy Clin Immunol. 2010. PMID: 20584545 No abstract available.
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, El Beshlawy A, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M. Shammas C, et al. Among authors: kanavakis e. Clin Chem Lab Med. 2010 Dec;48(12):1713-8. doi: 10.1515/CCLM.2010.331. Epub 2010 Aug 13. Clin Chem Lab Med. 2010. PMID: 20704537
Cutaneous leishmaniasis: response to cryotherapy treatment.
Xaidara A, Kakourou T, Klontza D, Flemetakis A, Kanavakis E. Xaidara A, et al. Among authors: kanavakis e. Eur J Pediatr. 1999 Jun;158(6):530. doi: 10.1007/s004310051139. Eur J Pediatr. 1999. PMID: 10378410 No abstract available.
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Zappu A, Magli O, Lepori MB, Dessì V, Diana S, Incollu S, Kanavakis E, Nicolaidou P, Manolaki N, Fretzayas A, De Virgiliis S, Cao A, Loudianos G. Zappu A, et al. Among authors: kanavakis e. J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):334-8. doi: 10.1097/MPG.0b013e31817094f6. J Pediatr Gastroenterol Nutr. 2008. PMID: 18728530
A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.
Kouvidi E, Tsimela H, Lazaros L, Manola KN, Zachaki S, Dobrescu R, Sfakianoudis K, Tsoni T, Katsidi C, Tsarouha H, Kanavakis E, Mavrou A. Kouvidi E, et al. Among authors: kanavakis e. J Hum Reprod Sci. 2022 Jul-Sep;15(3):307-317. doi: 10.4103/jhrs.jhrs_100_22. Epub 2022 Sep 30. J Hum Reprod Sci. 2022. PMID: 36341017 Free PMC article.
Retrocollis as the cardinal feature in a de novo ITRP1 variant.
Zachou A, Palaiologou D, Kanavakis E, Anagnostou E. Zachou A, et al. Among authors: kanavakis e. Brain Dev. 2022 May;44(5):347-352. doi: 10.1016/j.braindev.2022.01.005. Epub 2022 Feb 9. Brain Dev. 2022. PMID: 35148930
The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer.
Rampias T, Karagiannis D, Avgeris M, Polyzos A, Kokkalis A, Kanaki Z, Kousidou E, Tzetis M, Kanavakis E, Stravodimos K, Manola KN, Pantelias GE, Scorilas A, Klinakis A. Rampias T, et al. Among authors: kanavakis e. EMBO Rep. 2019 Mar;20(3):e46821. doi: 10.15252/embr.201846821. Epub 2019 Jan 21. EMBO Rep. 2019. PMID: 30665945 Free PMC article.
Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing.
Galanos P, Vougas K, Walter D, Polyzos A, Maya-Mendoza A, Haagensen EJ, Kokkalis A, Roumelioti FM, Gagos S, Tzetis M, Canovas B, Igea A, Ahuja AK, Zellweger R, Havaki S, Kanavakis E, Kletsas D, Roninson IB, Garbis SD, Lopes M, Nebreda A, Thanos D, Blow JJ, Townsend P, Sørensen CS, Bartek J, Gorgoulis VG. Galanos P, et al. Among authors: kanavakis e. Nat Cell Biol. 2016 Jul;18(7):777-89. doi: 10.1038/ncb3378. Epub 2016 Jun 20. Nat Cell Biol. 2016. PMID: 27323328 Free PMC article.
miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas.
Braoudaki M, Lambrou GI, Giannikou K, Papadodima SA, Lykoudi A, Stefanaki K, Sfakianos G, Kolialexi A, Tzortzatou-Stathopoulou F, Tzetis M, Kitsiou-Tzeli S, Kanavakis E. Braoudaki M, et al. Among authors: kanavakis e. Tumour Biol. 2016 Jul;37(7):9887-97. doi: 10.1007/s13277-016-4903-7. Epub 2016 Jan 26. Tumour Biol. 2016. PMID: 26813564
Microrna expression signatures predict patient progression and disease outcome in pediatric embryonal central nervous system neoplasms.
Braoudaki M, Lambrou GI, Giannikou K, Milionis V, Stefanaki K, Birks DK, Prodromou N, Kolialexi A, Kattamis A, Spiliopoulou CA, Tzortzatou-Stathopoulou F, Kanavakis E. Braoudaki M, et al. Among authors: kanavakis e. J Hematol Oncol. 2014 Dec 31;7:96. doi: 10.1186/s13045-014-0096-y. J Hematol Oncol. 2014. PMID: 25551588 Free PMC article.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: kanavakis e. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680
Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.
Dreesen J, Destouni A, Kourlaba G, Degn B, Mette WC, Carvalho F, Moutou C, Sengupta S, Dhanjal S, Renwick P, Davies S, Kanavakis E, Harton G, Traeger-Synodinos J. Dreesen J, et al. Among authors: kanavakis e. Eur J Hum Genet. 2014 Aug;22(8):1012-8. doi: 10.1038/ejhg.2013.277. Epub 2013 Dec 4. Eur J Hum Genet. 2014. PMID: 24301057 Free PMC article.
Investigation of FANCA mutations in Greek patients.
Selenti N, Sofocleous C, Kattamis A, Kolialexi A, Kitsiou S, Fryssira E, Polychronopoulou S, Kanavakis E, Mavrou A. Selenti N, et al. Among authors: kanavakis e. Anticancer Res. 2013 Aug;33(8):3369-74. Anticancer Res. 2013. PMID: 23898106
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Sailani MR, et al. Among authors: kanavakis e. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 Free PMC article.
Author reply: To PMID 23151857.
Leze E, Thomaidis L, Kitsiou-Tzeli S, Kanavakis E. Leze E, et al. Among authors: kanavakis e. World J Pediatr. 2013 Feb;9(1):90-1. doi: 10.1007/s12519-013-0409-1. World J Pediatr. 2013. PMID: 23389336 No abstract available.
Mutation spectrum and phenotypic manifestation in FSHD Greek patients.
Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E. Sakellariou P, et al. Among authors: kanavakis e. Neuromuscul Disord. 2012 Apr;22(4):339-49. doi: 10.1016/j.nmd.2011.11.001. Epub 2012 Feb 21. Neuromuscul Disord. 2012. PMID: 22357364
Jérôme Lejeune (1926-1994): father of modern genetics.
Karamanou M, Kanavakis E, Mavrou A, Petridou E, Androutsos G. Karamanou M, et al. Among authors: kanavakis e. Acta Med Hist Adriat. 2012;10(2):311-6. Acta Med Hist Adriat. 2012. PMID: 23560757
Time of sampling is crucial for measurement of cell-free plasma DNA following acute aseptic inflammation induced by exercise.
Fatouros IG, Jamurtas AZ, Nikolaidis MG, Destouni A, Michailidis Y, Vrettou C, Douroudos II, Avloniti A, Chatzinikolaou A, Taxildaris K, Kanavakis E, Papassotiriou I, Kouretas D. Fatouros IG, et al. Among authors: kanavakis e. Clin Biochem. 2010 Nov;43(16-17):1368-70. doi: 10.1016/j.clinbiochem.2010.08.020. Epub 2010 Aug 25. Clin Biochem. 2010. PMID: 20800058 Clinical Trial.
Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.
Makrythanasis P, Tzetis M, Rapti A, Papatheodorou A, Tsipi M, Kitsiou S, Tsiamouri A, Poulou M, Roussos C, Kanavakis E. Makrythanasis P, et al. Among authors: kanavakis e. Genet Test Mol Biomarkers. 2010 Aug;14(4):577-84. doi: 10.1089/gtmb.2009.0198. Genet Test Mol Biomarkers. 2010. PMID: 20722470
SURVEYOR on the spot: strengths and weaknesses in molecular diagnostics.
Vogiatzakis N, Kekou K, Sophocleous C, Kitsiou S, Mavrou A, Bakoula C, Kanavakis E. Vogiatzakis N, et al. Among authors: kanavakis e. J Mol Diagn. 2010 Mar;12(2):265; author reply 265-6. doi: 10.2353/jmoldx.2010.090193. J Mol Diagn. 2010. PMID: 20181820 Free PMC article.
Compounds of the anthracycline family of antibiotics elevate human gamma-globin expression both in erythroid cultures and in a transgenic mouse model.
Spyrou P, Phylactides M, Lederer CW, Kithreotis L, Kirri A, Christou S, Kkolou E, Kanavakis E, Anagnou NP, Stamatoyannopoulos G, Kleanthous M. Spyrou P, et al. Among authors: kanavakis e. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):100-6. doi: 10.1016/j.bcmd.2009.10.008. Epub 2009 Nov 14. Blood Cells Mol Dis. 2010. PMID: 19914848
Wilson disease in children: analysis of 57 cases.
Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP. Manolaki N, et al. Among authors: kanavakis e. J Pediatr Gastroenterol Nutr. 2009 Jan;48(1):72-7. doi: 10.1097/MPG.0b013e31817d80b8. J Pediatr Gastroenterol Nutr. 2009. PMID: 19172127
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Tzetis M, Kaliakatsos M, Fotoulaki M, Papatheodorou A, Doudounakis S, Tsezou A, Makrythanasis P, Kanavakis E, Nousia-Arvanitakis S. Tzetis M, et al. Among authors: kanavakis e. Clin Genet. 2007 May;71(5):451-7. doi: 10.1111/j.1399-0004.2007.00788.x. Clin Genet. 2007. PMID: 17489851
Steroid hormones polymorphisms and cholelithiasis in Greek population.
Kitsiou-Tzeli S, Giannatou E, Spanos I, Nicolaidou P, Fretzayas A, Tzetis M, Lazaris D, Kanavakis E, Tsezou A. Kitsiou-Tzeli S, et al. Among authors: kanavakis e. Liver Int. 2007 Feb;27(1):61-8. doi: 10.1111/j.1478-3231.2006.01385.x. Liver Int. 2007. PMID: 17241382
p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants.
Stefanaki I, Stratigos AJ, Dimisianos G, Nikolaou V, Papadopoulos O, Polydorou D, Gogas H, Tsoutsos D, Panagiotou P, Kanavakis E, Antoniou C, Katsambas AD. Stefanaki I, et al. Among authors: kanavakis e. Br J Dermatol. 2007 Feb;156(2):357-62. doi: 10.1111/j.1365-2133.2006.07645.x. Br J Dermatol. 2007. PMID: 17223878
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC. Kitsiou-Tzeli S, et al. Among authors: kanavakis e. Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. doi: 10.1016/j.ejmg.2006.09.004. Epub 2006 Oct 11. Eur J Med Genet. 2007. PMID: 17194633
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
Stratigos AJ, Dimisianos G, Nikolaou V, Poulou M, Sypsa V, Stefanaki I, Papadopoulos O, Polydorou D, Plaka M, Christofidou E, Gogas H, Tsoutsos D, Kastana O, Antoniou C, Hatzakis A, Kanavakis E, Katsambas AD. Stratigos AJ, et al. Among authors: kanavakis e. J Invest Dermatol. 2006 Aug;126(8):1842-9. doi: 10.1038/sj.jid.5700292. Epub 2006 Apr 6. J Invest Dermatol. 2006. PMID: 16601669 Free article.
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