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We have screened 175 patients for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene using nondenaturing polyacrylamide gel electrophoresis (PAGE), denaturing gradient gel electrophoresis (DGGE), and sequencing.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::6f2f6af007898730eb35c639fe25547e
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3092060
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3092060
The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis, Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::dd937395659c523213608c357038f1ca
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3081840
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3081840
Autor:
Vrettou, C Palmer, G Kanavakis, E Tzetis, M Antoniadi, T and Mastrominas, M Traeger-Synodinos, J
Preimplantation genetic diagnosis (PGD) allows the selection of unaffected IVF embryos for transfer in couples that are at risk for transmitting genetic diseases. For monogenic diseases, polymerase chain reaction (PCR)-based diagnosis is usually perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::dcf3933dd283fa458dd3bb804b3a1ed5
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3052576
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3052576
Objective To evaluate hereditary and acquired hemostatic abnormalities associated with recurrent spontaneous early (first-trimester) abortions. Method A group of 56 Greek women with two or more unexplained primary spontaneous abortions, and a referen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::539c2c3855f1b49c110ac54951e8dfd9
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3051240
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3051240
Congenital bilateral absence of the vas deferens (CBAVD) found in otherwise healthy infertile males, is associated with a high incidence of mutated cystic fibrosis transmembrane conductance regulator (CFTR) alleles, and is considered a genital form o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::626b54d2a607a5eb6f2de6380cf6e82d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3050366
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3050366
To completely characterize the spectrum of mutations in the cystic fibrosis transmembrane conductance regulator gene in Greek cystic fibrosis (CF) patients, we screened 500 CF chromosomes by denaturing gradient gel electrophoresis followed by direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::6bdbbde5bb0e6362e51424d328aaf40c
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3079180
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3079180
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (AF 508, G542X, G551D, 621+1 G→T, N1303K, W1282X) using allele-specific hyb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::cb2a532869075500b40e90bb8fb77528
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3079270
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3079270