Kanavakis E - Search Results

1

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

Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M. Poulou M, et al. Among authors: kanavakis e. J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11. J Cyst Fibros. 2012. PMID: 22326559 Free article.

2

Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.

Vrettou C, Tzetis M, Traeger-Synodinos J, Palmer G, Kanavakis E. Vrettou C, et al. Among authors: kanavakis e. Mol Hum Reprod. 2002 Sep;8(9):880-6. doi: 10.1093/molehr/8.9.880. Mol Hum Reprod. 2002. PMID: 12200467

3

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. Poulou M, et al. Among authors: kanavakis e. J Cyst Fibros. 2014 Dec;13(6):617-22. doi: 10.1016/j.jcf.2014.04.002. Epub 2014 Apr 29. J Cyst Fibros. 2014. PMID: 24784896 Free article.

4

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.

5

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E. Panagiotakaki E, et al. Among authors: kanavakis e. Am J Med Genet A. 2004 Dec 1;131(2):168-73. doi: 10.1002/ajmg.a.30345. Am J Med Genet A. 2004. PMID: 15523622

6

Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.

Radivojevic D, Djurisic M, Lalic T, Guc-Scekic M, Savic J, Minic P, Antoniadi T, Tzetis M, Kanavakis E. Radivojevic D, et al. Among authors: kanavakis e. Genet Test. 2004 Fall;8(3):276-80. doi: 10.1089/gte.2004.8.276. Genet Test. 2004. PMID: 15727251

7

Genotyping efficiency of 2 primer sets and an unlabeled oligonucleotide probe for the p.Phe508del in exon 10 of the CFTR gene as determined with high-resolution melting analysis.

Poulou M, Destouni A, Fylaktou I, Kanavakis E, Tzetis M. Poulou M, et al. Among authors: kanavakis e. Clin Chem. 2012 Oct;58(10):1490-2. doi: 10.1373/clinchem.2012.189696. Epub 2012 Aug 15. Clin Chem. 2012. PMID: 22896710 No abstract available.

8

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. Delaveri A, et al. Among authors: kanavakis e. Meta Gene. 2014 Aug 31;2:619-30. doi: 10.1016/j.mgene.2014.07.009. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606445 Free PMC article.

9

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

10

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. Tsipi M, et al. Among authors: kanavakis e. Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun. Meta Gene. 2016. PMID: 27014590 Free PMC article.

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