Doudounakis S - Search Results

1

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: doudounakis s. Hum Genet. 1997 Jan;99(1):121-5. doi: 10.1007/s004390050324. Hum Genet. 1997. PMID: 9003508

2

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: doudounakis s. Mol Cell Probes. 1995 Aug;9(4):283-5. doi: 10.1016/s0890-8508(95)90169-8. Mol Cell Probes. 1995. PMID: 7477025

3

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. Among authors: doudounakis s. Hum Genet. 1995 Sep;96(3):364-6. doi: 10.1007/BF00210426. Hum Genet. 1995. PMID: 7544320

4

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: doudounakis s. Hum Genet. 2001 Mar;108(3):216-21. doi: 10.1007/s004390100467. Hum Genet. 2001. PMID: 11354633

5

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: doudounakis s. Hum Genet. 2001 Dec;109(6):592-601. doi: 10.1007/s00439-001-0631-0. Epub 2001 Nov 6. Hum Genet. 2001. PMID: 11810271

6

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. Among authors: doudounakis s. Clin Genet. 2003 May;63(5):400-9. doi: 10.1034/j.1399-0004.2003.00067.x. Clin Genet. 2003. PMID: 12752573

7

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: doudounakis s. Clin Genet. 2007 May;71(5):451-7. doi: 10.1111/j.1399-0004.2007.00788.x. Clin Genet. 2007. PMID: 17489851

8

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE. Pagani F, et al. Among authors: doudounakis s. Hum Mol Genet. 2003 May 15;12(10):1111-20. doi: 10.1093/hmg/ddg131. Hum Mol Genet. 2003. PMID: 12719375

9

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.

Kanavakis E, Tzetis M, Antoniadi T, Trager-Synodinos J, Kattamis C, Doudounakis S, Adam G. Kanavakis E, et al. Among authors: doudounakis s. J Med Genet. 1995 May;32(5):406-7. doi: 10.1136/jmg.32.5.406. J Med Genet. 1995. PMID: 7542347 Free PMC article. No abstract available.

10

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. Among authors: doudounakis s. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.

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