Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aphrodite Loutradi-Anagnostou"'
Autor:
Panayotis Tsaftaridis, George P. Patrinos, Aphrodite Loutradi-Anagnostou, Manoussos N. Papadakis
Publikováno v:
Journal of Molecular Medicine. 80:243-247
The coexistence of beta- and gamma-globin gene mutations in the compound heterozygous state presents a rare in vivo model that provides important data on gene regulation of clinical interest. In this unique comparative study we present the hematologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adff34c4df30e8fe71c7b61e6bafca61
https://doi.org/10.1007/s00109-001-0312-4
https://doi.org/10.1007/s00109-001-0312-4
Autor:
Aphrodite Loutradi-Anagnostou, Manoussos N. Papadakis, Dimitris Loukopoulos, Elisavet Papapanagiotou, George P. Patrinos, Panagoula Kollia
Publikováno v:
American Journal of Hematology. 66:99-104
This study illustrates the relationship between a group of nucleotide variations within the 5' regulatory region of the Agamma-globin gene [Agamma-588 A-->G, Agamma-499 T-->A and the 4-bp deletion (Agamma-225 to -222 AGCA)] and the spectrum of delta-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::670659ee161fb08ca35cb6f3e28f14ff
https://doi.org/10.1002/1096-8652(200102)66:2<99::aid-ajh1024>3.0.co
https://doi.org/10.1002/1096-8652(200102)66:2<99::aid-ajh1024>3.0.co
Autor:
Magdalini Tasiopoulou, Marina Boussiou, Photini Karababa, Aphrodite Loutradi-Anagnostou, George Moraitis, Klio Sinopoulou
Publikováno v:
Blood Cells, Molecules, and Diseases. 40:320-322
The increased level of fetal hemoglobin in nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH) is associated with several single base substitutions in the promoter region of either the (G)gamma- or the (A)gamma-globin genes. In this st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69478f2948c58fdc24589357a2e3cb42
https://doi.org/10.1016/j.bcmd.2007.10.007
https://doi.org/10.1016/j.bcmd.2007.10.007
Autor:
George P. Patrinos, Aphrodite Loutradi-Anagnostou, Dimitris Loukopoulos, Manoussos N. Papadakis, Panagoula Kollia
Publikováno v:
Human Genetics. 102:629-634
We report a new type of non-deletional hereditary persistence of fetal hemoglobin that is due to a C--T transition at position -158, relative to the Cap site of the human Agamma-globin gene. This mutation was identified in three unrelated adult cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b3ce4f53ba141a8d59d0fbc4ced1da
https://doi.org/10.1007/s004390050753
https://doi.org/10.1007/s004390050753
Autor:
Athanasios Tsivgoulis, Aphrodite Loutradi-Anagnostou, Nikolaos Tentolouris, Dimitrios Athanasiadis, Nikoleta Vlachou, Marouso Drossou-Servou, Heleni Triantafyllidi, Athina Andrikopoulou, Chrisa Arvaniti, Georgios Tsivgoulis, Konstantinos Voumvourakis, Elefterios Stamboulis, Sotirios Tsiodras
Publikováno v:
Clinical autonomic research : official journal of the Clinical Autonomic Research Society. 22(3)
We electrophysiologically evaluated the autonomic function (AF) in a consecutive series of patients with beta-thalassemia and in normal individuals. Six quantitative autonomic function tests (AFTs) were used: tilt test, hand grip test and sympathetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d97b9ab667d9ba9696dcbb75094bcc3
https://pubmed.ncbi.nlm.nih.gov/22170296
https://pubmed.ncbi.nlm.nih.gov/22170296
Autor:
Panagiotis Tsaftaridis, Aphrodite Loutradi-Anagnostou, Klio Sinopoulou, Marina Boussiou, Photini Karababa, Eleni Plata
Publikováno v:
Blood cells, moleculesdiseases. 40(3)
Beta-thalassemia is the most predominant genetic defect in Greece. In this study, we investigated the heterogeneity and the frequency of beta-thalassemia mutations among 3796 heterozygotes detected in the course of DNA based diagnoses. The diagnostic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f4ddb82c98156e2cf64cf02f908d98
https://pubmed.ncbi.nlm.nih.gov/18096416
https://pubmed.ncbi.nlm.nih.gov/18096416
Publikováno v:
Human Genetics. 97:260-262
A T→C substitution at position 402 of the Gγ globin gene results in an isoleucine to threonine substitution at codon 75 of the Gγ globin chain and the formation of HbF-Lesvos [α2Gγ2 75 (E19) Ile→Thr].
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb1414d1e9cf1921cd9f034ccf444b87
https://doi.org/10.1007/bf02265278
https://doi.org/10.1007/bf02265278
Publikováno v:
Human genetics. 97(3)
A new T --A base substitution, identified inside the 5' regulatory region of the human Agamma globin gene (Agamma-499 T --A), is reported. This nucleotide change was found to be linked in cis with the mutation producing sickle cell anemia (CD6 GAG--G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c33a0389d51474bc94a0e3cf9230006
https://pubmed.ncbi.nlm.nih.gov/8786081
https://pubmed.ncbi.nlm.nih.gov/8786081
Publikováno v:
British journal of haematology. 51(4)
In a Greek family three cases of beta-thalassaemia intermedia were diagnosed as resulting from the interaction of a typical high HbA2-beta-thalassaemia with an atypical (silent) beta-thalassaemia gene. Following electrophoresis of globins on an acid-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae6c9fd53ba7bdab1f1c91f457651c2
https://pubmed.ncbi.nlm.nih.gov/7104238
https://pubmed.ncbi.nlm.nih.gov/7104238