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Traeger-Synodinos, J
Papassotiriou, I
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Stamoulakatou, A
Kanavakis, E
Citation: J. Traeger-synodinos et al., Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional alpha-globin and beta-globin gene, HAEMATOLOG, 86(4), 2001, pp. 363-367
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Papassotiriou, I
Traeger-Synodinos, J
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Marden, M
Stamoulakatou, A
Wajcman, H
Kanavakis, E
Citation: I. Papassotiriou et al., Hb Sitia [beta 128(H6)Ala -> Val]: An unstable variant with a substitutionin the alpha 1 beta 1 interface, HEMOGLOBIN, 25(1), 2001, pp. 45-56
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Tzetis, M
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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
Authors:
Amaral, MD
Pacheco, P
Beck, S
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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
Authors:
Loudianos, G
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Solinas, P
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Karpathios, T
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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
Authors:
Traeger-Synodinos, J
Papassotiriou, I
Metaxotou-Mavrommati, A
Vrettou, C
Stamoulakatou, A
Kanavakis, E
Citation: J. Traeger-synodinos et al., Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb Heraklion, alpha 1cd37(C2)Pro > 0): Comparison to other alpha-thalassemic hemoglobinopathies, BL CELL M D, 26(4), 2000, pp. 276-284
Authors:
Dork, T
Macek, M
Mekus, F
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Casals, T
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Sakmaryova, I
Macek, M
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Zemkova, D
Ginter, E
Petrova, NV
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Baranov, V
Witt, M
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Bal, J
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Wagner, K
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Bauer, I
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Thamm, B
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Glavac, D
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Richter, D
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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
Authors:
Kavazarakis, E
Tsezou, A
Tzetis, M
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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
Authors:
De Boer, K
Hussey, N
Wilton, L
Sermon, K
Hindkjaer, J
Frydman, N
Viville, S
Kanavakis, E
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Manor, D
Ciotti, MP
Magli, C
Coonen, E
Kang, IS
Veiga, A
Santalo, J
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Citation: K. De Boer et al., ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection II (May 2000), HUM REPR, 15(12), 2000, pp. 2673-2683
Authors:
Traeger-Synodinos, J
Metaxotou-Mavrommati, A
Karagiorga, M
Vrettou, C
Papassotiriou, I
Stamoulakatou, A
Kanavakis, E
Citation: J. Traeger-synodinos et al., Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha 2, codon 59, G(G)under-barC -> G(A)under-barC) or a nondeletional alpha-thalassemia mutation (AATAA(A)under-bar -> AATAA(G)under-bar): Comparison of phenotypes illustrating "dominant" alpha-thalassemia, HEMOGLOBIN, 23(4), 1999, pp. 325-337
Authors:
Papassotiriou, I
Traeger-Synodinos, J
Vlachou, C
Karagiorga, M
Metaxotou, A
Kanavakis, E
Stamoulakatou, A
Citation: I. Papassotiriou et al., Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: Correlation with the alpha-thalassemia genotype, HEMOGLOBIN, 23(3), 1999, pp. 203-211
Authors:
Papassotiriou, I
Traeger-Synodinos, J
Prome, D
Kister, J
Stamou, E
Liakopoulou, T
Stamoulakatou, A
Kanavakis, E
Wajcman, H
Citation: I. Papassotiriou et al., Association of unstable hemoglobin variants and heterozygous beta-thalassemia: Example of a new variant Hb Acharnes or [beta 53(D4) Ala -> Thr], AM J HEMAT, 62(3), 1999, pp. 186-192
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
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
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