Kanavakis E - Search Results

1

Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.

Tzetis M, Kanavakis E, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Kattamis C. Tzetis M, et al. Among authors: kanavakis e. Mol Cell Probes. 1995 Aug;9(4):283-5. doi: 10.1016/s0890-8508(95)90169-8. Mol Cell Probes. 1995. PMID: 7477025

2

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C. Kanavakis E, et al. Hum Genet. 1995 Sep;96(3):364-6. doi: 10.1007/BF00210426. Hum Genet. 1995. PMID: 7544320

3

Characterization of nondeletion alpha-thalassemia mutations in the Greek population.

Traeger-Synodinos J, Kanavakis E, Tzetis M, Kattamis A, Kattamis C. Traeger-Synodinos J, et al. Among authors: kanavakis e. Am J Hematol. 1993 Nov;44(3):162-7. doi: 10.1002/ajh.2830440305. Am J Hematol. 1993. PMID: 8213764

4

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.

Tzetis M, Kanavakis E, Antoniadi T, Doudounakis S, Adam G, Kattamis C. Tzetis M, et al. Among authors: kanavakis e. Hum Genet. 1997 Jan;99(1):121-5. doi: 10.1007/s004390050324. Hum Genet. 1997. PMID: 9003508

5

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia.

Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C. Kanavakis E, et al. Mol Hum Reprod. 1998 Apr;4(4):333-7. doi: 10.1093/molehr/4.4.333. Mol Hum Reprod. 1998. PMID: 9620832

6

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.

Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E. Tzetis M, et al. Among authors: kanavakis e. Hum Genet. 2001 Mar;108(3):216-21. doi: 10.1007/s004390100467. Hum Genet. 2001. PMID: 11354633

7

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.

Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E. Tzetis M, et al. Among authors: kanavakis e. Hum Genet. 2001 Dec;109(6):592-601. doi: 10.1007/s00439-001-0631-0. Epub 2001 Nov 6. Hum Genet. 2001. PMID: 11810271

8

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M. Kanavakis E, et al. Clin Genet. 2003 May;63(5):400-9. doi: 10.1034/j.1399-0004.2003.00067.x. Clin Genet. 2003. PMID: 12752573

9

The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.

Traeger-Synodinos J, Tzetis M, Kanavakis E, Metaxotou-Mavromati A, Kattamis C. Traeger-Synodinos J, et al. Among authors: kanavakis e. Br J Haematol. 1991 Oct;79(2):302-5. doi: 10.1111/j.1365-2141.1991.tb04537.x. Br J Haematol. 1991. PMID: 1720325

10

Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece.

Stefanis L, Kanavakis E, Traeger-Synodinos J, Tzetis M, Metaxotou-Mavromati A, Kattamis C. Stefanis L, et al. Among authors: kanavakis e. Pediatr Hematol Oncol. 1994 Sep-Oct;11(5):509-17. doi: 10.3109/08880019409141689. Pediatr Hematol Oncol. 1994. PMID: 7530030

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