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Items: 1 to 50 of 261

1.

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.

Blood Cells Mol Dis. 2019 May;76:32-39. doi: 10.1016/j.bcmd.2019.01.003. Epub 2019 Jan 24.

PMID:
30709626
2.

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.

EMBO Rep. 2019 Mar;20(3). pii: e46821. doi: 10.15252/embr.201846821. Epub 2019 Jan 21.

3.

Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.

Traeger-Synodinos J, Vrettou C, Kanavakis E.

Methods Mol Biol. 2019;1885:207-219. doi: 10.1007/978-1-4939-8889-1_14.

PMID:
30506200
4.

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.

Tsoutsou E, Tzetis M, Giannikou K, Braoudaki M, Mitrakos A, Amenta S, Selenti N, Kanavakis E, Zafeiriou D, Kitsiou-Tzeli S, Fryssira H.

Pediatr Res. 2017 Aug;82(2):253-260. doi: 10.1038/pr.2017.65. Epub 2017 May 24.

PMID:
28422950
5.

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

Pons R, Kekou K, Gkika A, Papadimas G, Vogiatzakis N, Svingou M, Papadopooulos C, Nikas I, Dinopoulos A, Youroukos S, Kanavakis E.

Muscle Nerve. 2017 Jan;55(1):46-50. doi: 10.1002/mus.25190. Epub 2016 Oct 28.

PMID:
27178005
6.

Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.

Pons R, Kekou K, Antonellou R, Svingou M, Kanavakis E, Stefanis L.

Mov Disord. 2016 Nov;31(11):1753-1754. doi: 10.1002/mds.26807. Epub 2016 Sep 26. No abstract available.

PMID:
27666733
7.

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.

Mol Cell Probes. 2016 Aug;30(4):254-260. doi: 10.1016/j.mcp.2016.07.001. Epub 2016 Jul 12.

PMID:
27417533
8.

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.

Nat Cell Biol. 2016 Jul;18(7):777-89. doi: 10.1038/ncb3378. Epub 2016 Jun 20.

PMID:
27323328
9.

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

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

Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun.

10.

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

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

J Cyst Fibros. 2016 Sep;15(5):587-96. doi: 10.1016/j.jcf.2016.02.004. Epub 2016 Feb 26.

11.

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.

Tumour Biol. 2016 Jul;37(7):9887-97. doi: 10.1007/s13277-016-4903-7. Epub 2016 Jan 26.

PMID:
26813564
12.

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

Oikonomakis V, Kosma K, Mitrakos A, Sofocleous C, Pervanidou P, Syrmou A, Pampanos A, Psoni S, Fryssira H, Kanavakis E, Kitsiou-Tzeli S, Tzetis M.

Clin Genet. 2016 Jun;89(6):708-18. doi: 10.1111/cge.12740. Epub 2016 Feb 9.

PMID:
26777411
13.

MicroRNA expression profiles in pediatric dysembryoplastic neuroepithelial tumors.

Braoudaki M, Lambrou GI, Papadodima SA, Stefanaki K, Prodromou N, Kanavakis E.

Med Oncol. 2016 Jan;33(1):5. doi: 10.1007/s12032-015-0719-3. Epub 2015 Dec 23.

PMID:
26698155
14.

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.

Syst Biol Reprod Med. 2016;62(1):69-76. doi: 10.3109/19396368.2015.1100692. Epub 2015 Dec 4.

PMID:
26636621
15.

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.

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.

PMID:
26580967
16.

UBE3A, c.1347_1348delGA: a mutation in question.

Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S.

Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. No abstract available.

PMID:
26457786
17.

Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.

Petropoulou M, Poula A, Traeger-Synodinos J, Vrettou C, Kanavakis E, Christopoulos TK, Ioannou PC.

Clin Chem Lab Med. 2015 Nov;53(12):1951-9. doi: 10.1515/cclm-2015-0082.

PMID:
26035111
18.

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

Settas N, Anapliotou M, Kanavakis E, Fryssira H, Sofocleous C, Dacou-Voutetakis C, Chrousos GP, Voutetakis A.

Menopause. 2015 Nov;22(11):1264-8. doi: 10.1097/GME.0000000000000473.

PMID:
25988799
19.

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.

Petropoulou M, Poula A, Traeger-Synodinos J, Kanavakis E, Christopoulos TK, Ioannou PC.

Clin Chim Acta. 2015 Jun 15;446:241-7. doi: 10.1016/j.cca.2015.04.016. Epub 2015 Apr 17.

PMID:
25892676
20.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J.

Clin Genet. 2016 Jan;89(1):27-33. doi: 10.1111/cge.12571. Epub 2015 Mar 9.

PMID:
25683496
21.

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients.

Delaveri A, Rapti A, Poulou M, Fylaktou E, Tsipi M, Roussos C, Makrythanasis P, Kanavakis E, Tzetis M.

Meta Gene. 2014 Aug 31;2:619-30. doi: 10.1016/j.mgene.2014.07.009. eCollection 2014 Dec.

22.

Awareness of prenatal screening for fetal aneuploidy among pregnant women in Greece.

Karagkiouzis T, Sifakis S, Makrithanasis P, Dessypris N, Petridou ET, Kitsiou-Tzeli S, Kanavakis E.

In Vivo. 2015 Jan-Feb;29(1):155-60.

PMID:
25600547
23.

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.

J Hematol Oncol. 2014 Dec 31;7:96. doi: 10.1186/s13045-014-0096-y.

24.

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.

Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5.

PMID:
25476779
25.

Generation of human β-thalassemia induced pluripotent cell lines by reprogramming of bone marrow-derived mesenchymal stromal cells using modified mRNA.

Varela I, Karagiannidou A, Oikonomakis V, Tzetis M, Tzanoudaki M, Siapati EK, Vassilopoulos G, Graphakos S, Kanavakis E, Goussetis E.

Cell Reprogram. 2014 Dec;16(6):447-55. doi: 10.1089/cell.2014.0050. Epub 2014 Oct 29.

PMID:
25354259
26.

SMA prenatal diagnosis: a modified protocol to help differentiation between deletions and gene conversion.

Kekou K, Sofocleous C, Konstantinidis G, Fryssira H, Mavrou A, Kitsiou S, Kanavakis E.

Mol Cell Probes. 2015 Feb;29(1):71-3. doi: 10.1016/j.mcp.2014.10.001. Epub 2014 Oct 13.

PMID:
25308401
27.

Impaired degradation and aberrant phagocytosis of necrotic cell debris in the peripheral blood of patients with primary Sjögren's syndrome.

Fragoulis GE, Vakrakou AG, Papadopoulou A, Germenis A, Kanavakis E, Moutsopoulos HM, Manoussakis MN.

J Autoimmun. 2015 Jan;56:12-22. doi: 10.1016/j.jaut.2014.08.004. Epub 2014 Sep 16.

PMID:
25228497
28.

Phenotypic variability and molecular genetics in proximal myotonic myopathy.

Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P.

Muscle Nerve. 2015 May;51(5):686-91. doi: 10.1002/mus.24440. Epub 2015 Mar 31.

PMID:
25186227
29.

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.

Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18.

PMID:
25044680
30.

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.

Gene. 2014 Sep 10;548(1):56-60. doi: 10.1016/j.gene.2014.07.007. Epub 2014 Jul 8.

PMID:
25010723
31.

Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population.

Lepetsos P, Pampanos A, Kanavakis E, Tzetis M, Korres D, Papavassiliou AG, Efstathopoulos N.

J Orthop Res. 2014 Sep;32(9):1155-60. doi: 10.1002/jor.22647. Epub 2014 May 16.

32.

Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR.

Poulou M, Destouni A, Kakourou G, Kanavakis E, Tzetis M.

J Cyst Fibros. 2014 Dec;13(6):617-22. doi: 10.1016/j.jcf.2014.04.002. Epub 2014 Apr 29.

33.

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.

Cell Reprogram. 2014 Feb;16(1):1-8. doi: 10.1089/cell.2013.0040. Epub 2013 Dec 31.

PMID:
24380659
34.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Karavitakis E, Kitsiou-Tzeli S, Xaidara A, Kosma K, Makrythanasis P, Apazidou E, Kanavakis E, Tzetis M.

Am J Med Genet A. 2014 Mar;164A(3):666-70. doi: 10.1002/ajmg.a.36346. Epub 2013 Dec 20.

PMID:
24375959
35.

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Fylaktou I, Megremis S, Mitsioni A, Kitsiou-Tzeli S, Kosma K, Bitsori M, Stefanidis CJ, Kanavakis E, Traeger Synodinos J.

J Genet. 2013 Dec;92(3):577-81. No abstract available.

36.

A simplified approach for FSHD molecular testing.

Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC.

Clin Chim Acta. 2014 Feb 15;429:96-103. doi: 10.1016/j.cca.2013.11.032. Epub 2013 Dec 7.

PMID:
24321734
37.

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.

Eur J Hum Genet. 2014 Aug;22(8):1012-8. doi: 10.1038/ejhg.2013.277. Epub 2013 Dec 4.

38.

A generic, flexible protocol for preimplantation human leukocyte antigen typing alone or in combination with a monogenic disease, for rapid case work-up and application.

Kakourou G, Destouni A, Vrettou C, Traeger-Synodinos J, Kanavakis E.

Hemoglobin. 2014;38(1):49-55. doi: 10.3109/03630269.2013.842582. Epub 2013 Oct 16.

PMID:
24131134
39.

Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Vogiatzakis N, Kekou K, Sophocleous C, Kitsiou S, Mavrou A, Bakoula C, Kanavakis E.

Mol Biotechnol. 2013 Sep;55(1):1-9. doi: 10.1007/s12033-007-0062-9. Epub 2007 Aug 14.

PMID:
23934597
40.

Association of NADPH oxidase p22phox gene C242T, A640G and -930A/G polymorphisms with primary knee osteoarthritis in the Greek population.

Lepetsos P, Pampanos A, Lallos S, Kanavakis E, Korres D, Papavassiliou AG, Efstathopoulos N.

Mol Biol Rep. 2013 Sep;40(9):5491-9. doi: 10.1007/s11033-013-2649-5. Epub 2013 Aug 7.

PMID:
23922196
41.

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.

Anticancer Res. 2013 Aug;33(8):3369-74.

PMID:
23898106
42.

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K, Pampanos A, Kitsiou-Tzeli S, Vrettou C, Oikonomakis V, Sofocleous C, Kanavakis E.

Psychiatr Genet. 2013 Oct;23(5):198-203. doi: 10.1097/YPG.0b013e3283643644.

PMID:
23851596
43.

Abnormal DLK1/MEG3 imprinting correlates with decreased HERV-K methylation after assisted reproduction and preimplantation genetic diagnosis.

Dimitriadou E, Noutsopoulos D, Markopoulos G, Vlaikou AM, Mantziou S, Traeger-Synodinos J, Kanavakis E, Chrousos GP, Tzavaras T, Syrrou M.

Stress. 2013 Nov;16(6):689-97. doi: 10.3109/10253890.2013.817554. Epub 2013 Jul 25.

PMID:
23786541
44.

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.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

45.

Eleven years of preimplantation genetic diagnosis for human leukocyte antigen matching: is there room for improvement?

Traeger-Synodinos J, Kakourou G, Destouni A, Kanavakis E.

Expert Rev Hematol. 2013 Jun;6(3):215-7. doi: 10.1586/ehm.13.29. No abstract available.

PMID:
23782072
46.

High frequency of NAD(P)H:quinone oxidoreductase 1 (NQO1) C(609)T germline polymorphism in MDS/AML with trisomy 8.

Zachaki S, Stavropoulou C, Koromila T, Manola KN, Kalomoiraki M, Daraki A, Koumbi D, Athanasiadou A, Kanavakis E, Kollia P, Sambani C.

Leuk Res. 2013 Jul;37(7):742-6. doi: 10.1016/j.leukres.2013.04.015. Epub 2013 May 1.

PMID:
23643325
47.

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.

Prenat Diagn. 2013 Jul;33(7):682-7. doi: 10.1002/pd.4093. Epub 2013 Mar 22.

PMID:
23526657
48.

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E.

Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12.

PMID:
23481551
49.

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.

Eur J Paediatr Neurol. 2013 Jul;17(4):366-73. doi: 10.1016/j.ejpn.2012.12.010. Epub 2013 Feb 14. Erratum in: Eur J Paediatr Neurol. 2013 Nov;17(6):685. Helen, Fryssira-Kanioura [corrected to Fryssira-Kanioura, Helen]; Sofia, Kitsiou-Tzeli [corrected to Kitsiou-Tzeli, Sofia].

PMID:
23416059
50.

Author reply: To PMID 23151857.

Leze E, Thomaidis L, Kitsiou-Tzeli S, Kanavakis E.

World J Pediatr. 2013 Feb;9(1):90-1. doi: 10.1007/s12519-013-0409-1. No abstract available.

PMID:
23389336

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