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Results: 1-10 |
Results: 10
Gilbert syndrome associated with beta-thalassemia
Authors: Tzetis, M Kanavakis, E Tsezou, A Ladis, V Pateraki, E Georgakopoulou, T Kavazarakis, E Maragoudaki, E Karpathios, T Kitsiou-Tzeli, S
Citation: M. Tzetis et al., Gilbert syndrome associated with beta-thalassemia, PED HEM ONC, 18(8), 2001, pp. 477-484
CFTR gene mutations - including three novel nucleotide substitutions - andhaplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
Authors: Tzetis, M Efthymiadou, A Strofalis, S Psychou, P Dimakou, A Pouliou, E Doudounakis, S Kanavakis, E
Citation: M. Tzetis et al., CFTR gene mutations - including three novel nucleotide substitutions - andhaplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease, HUM GENET, 108(3), 2001, pp. 216-221
Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study
Authors: Amaral, MD Pacheco, P Beck, S Farinha, CM Penque, D Nogueira, P Barreto, C Lopes, B Casals, T Dapena, J Gartner, S Vasquez, C Perez-Frias, J Olveira, C Cabanas, R Estivill, X Tzetis, M Kanavakis, E Doudounakis, S Dork, T Tummler, B Girodon-Boulandet, E Cazeneuve, C Goossens, M Blayau, M Verlingue, C Vieira, I Ferec, 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
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations
Authors: Loudianos, G Lovicu, M Solinas, P Kanavakis, E Tzetis, M Manolaki, N Panagiotakaki, E Karpathios, T Cao, A
Citation: G. Loudianos et al., Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations, GENET TEST, 4(4), 2000, pp. 399-402
A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele
Authors: Tsezou, A Tzetis, M Kitsiou, S Kavazarakis, E Galla, A Kanavakis, E
Citation: A. Tsezou et al., A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele, HAEMATOLOG, 85(3), 2000, pp. 319-319
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
Authors: Dork, T Macek, M Mekus, F Tummler, B Tzountzouris, J Casals, T Krebsova, A Koudova, M Sakmaryova, I Macek, M Vavrova, V Zemkova, D Ginter, E Petrova, NV Ivaschenko, T Baranov, V Witt, M Pogorzelski, A Bal, J Zekanowsky, C Wagner, K Stuhrmann, M Bauer, I Seydewitz, HH Neumann, T Jakubiczka, S Kraus, C Thamm, B Nechiporenko, M Livshits, L Mosse, N Tsukerman, G Kadasi, L Ravnik-Glavac, M Glavac, D Komel, R Vouk, K Kucinskas, V Krumina, A Teder, M Kocheva, S Efremov, GD Onay, T Kirdar, B Malone, G Schwarz, M Zhou, ZQ Friedman, KJ Carles, S Claustres, M Bozon, D Verlingue, C Ferec, C Tzetis, M Kanavakis, E Cuppens, H Bombieri, C Pignatti, PF Sangiuolo, F Jordanova, A Kusic, J Radojkovic, D Sertic, J Richter, D Rukavina, AS Bjorck, E Strandvik, B Cardoso, H Montgomery, M Nakielna, B Hughes, D Estivill, X Aznarez, I Tullis, E Tsui, LC Zielenski, J
Citation: T. Dork et al., Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe, HUM GENET, 106(3), 2000, pp. 259-268
Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population
Authors: Kavazarakis, E Tsezou, A Tzetis, M Hadjidimoula, A Kitsiou, S Kanavakis, E Karpathios, T
Citation: E. Kavazarakis et al., Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population, EUR J PED, 159(11), 2000, pp. 873-874
A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: Application to preimplantation genetic diagnosis
Authors: Vrettou, C Palmer, G Kanavakis, E Tzetis, M Antoniadi, T Mastrominas, M Traeger-Synodinos, J
Citation: C. Vrettou et al., A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: Application to preimplantation genetic diagnosis, PRENAT DIAG, 19(13), 1999, pp. 1209-1216
Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: Clinical experience including the initiation of sixsingleton pregnancies
Authors: Kanavakis, E Vrettou, C Palmer, G Tzetis, M Mastrominas, M Traeger-Synodinos, J
Citation: E. Kanavakis et al., Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: Clinical experience including the initiation of sixsingleton pregnancies, PRENAT DIAG, 19(13), 1999, pp. 1217-1222
Molecular, haematological and clinical studies of the-101 C -> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes
Authors: Maragoudaki, E Kanavakis, E Traeger-Synodinos, J Vrettou, C Tzetis, M Metaxotou-Mavrommati, A Kattamis, C
Citation: E. Maragoudaki et al., Molecular, haematological and clinical studies of the-101 C -> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes, BR J HAEM, 107(4), 1999, pp. 699-706
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