Zobrazeno 1 - 10
of 49
pro vyhledávání: '"T A, Stoming"'
Autor:
E. George, T. A. Stoming, G. Petkov, K. G. Yang, Titus H.J. Huisman, L. Jankovic, Georgi D. Efremov, Christos Kattamis
Publikováno v:
British Journal of Haematology. 75:122-126
In an ongoing effort to identify point mutations causing beta-thalassaemia, we have found two previously unreported mutations which are located in the Poly A site of the beta-globin gene. The screening programme used amplified DNA and dot-blot hybrid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1c17cbd29ed35a888f2a366f04106dc
https://doi.org/10.1111/j.1365-2141.1990.00122.x
https://doi.org/10.1111/j.1365-2141.1990.00122.x
Autor:
Ralph L. Elkins, You-Jung Fei, Jeffrey L. Rausch, Gaylon L. Edwards, T. A. Stoming, Jerry J. Buccafusco, T. Edward Orr, Stephen H. Hobbs, G.Frank Carl
Publikováno v:
Annals of the New York Academy of Sciences. 985:519-521
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::749ef26251a5370d2fab79190116ac38
https://doi.org/10.1111/j.1749-6632.2003.tb07116.x
https://doi.org/10.1111/j.1749-6632.2003.tb07116.x
Autor:
V. R. Arruda, J.F. Nechtman, Goncalves, M Kimura, T. A. Stoming, Maria de Fátima Sonati, F. F. Costa
Publikováno v:
Hemoglobin. 18:235-239
(1994). Association of Hb santa ANA [α2β288(F4)LEU→PRO] And Hb porto alegre [α2β29(A6)SER→CYS] in a brazilian female. Hemoglobin: Vol. 18, No. 3, pp. 235-239.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e421d9490ad5cbe19037a9caad82d0b9
https://doi.org/10.3109/03630269409043625
https://doi.org/10.3109/03630269409043625
Publikováno v:
Hemoglobin. 17:563-567
(1993). A Novel β-Thalassemia Mutation [IVS-II-5 (G→C)] in a Chinese Family from Guangxi Province, P. R. China. Hemoglobin: Vol. 17, No. 6, pp. 563-567.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3966767826cc0ca260c45f03472d0cc9
https://doi.org/10.3109/03630269309043498
https://doi.org/10.3109/03630269309043498
Autor:
R. Öner, Yurdanur Kilinç, Muzaffer Aksoy, Abdullah Kutlar, Titus H.J. Huisman, A. L. Reese, Cigdem Altay, T. A. Stoming, Aytemiz Gurgey, Ferdane Kutlar
Publikováno v:
Hemoglobin. 14:1-13
A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58eacf242ea936accec58f2edd6b4009
https://doi.org/10.3109/03630269009002250
https://doi.org/10.3109/03630269009002250
Autor:
M S, Goncalves, J F, Nechtman, M S, Figueiredo, J, Kerbauy, V R, Arruda, M F, Sonati, S O, Saad, F F, Costa, T A, Stoming
Publikováno v:
Human heredity. 44(6)
In this study we have determined the frequency of beta S haplotypes in a Brazilian sickle cell disease population from Sao Paulo, Brazil, by analyzing sequence variations in the immediate 5' flanking and second intervening sequence (IVSII) regions of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::071265a59c0a7f33ddbbf54de095a484
https://pubmed.ncbi.nlm.nih.gov/7860085
https://pubmed.ncbi.nlm.nih.gov/7860085
Publikováno v:
Hemoglobin. 18(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5396c93179f99e9b31a9c163271549c3
https://pubmed.ncbi.nlm.nih.gov/7928381
https://pubmed.ncbi.nlm.nih.gov/7928381
Autor:
Titus H.J. Huisman, X. J. Wen, J. F. Nechtman, J.-B. Zhao, N. H. Jiang, S. Liang, T. A. Stoming, R. Liang
Publikováno v:
British journal of haematology. 86(2)
We have studied nearly 100 patients with beta-thalassaemia major and 60 patients with Hb H disease who were attending the Haematology Clinic of Guangxi Medical College. Treatment of the patients was limited and only a few patients with beta-thalassae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d3972e9239a2664f12c45c237cc4d43
https://pubmed.ncbi.nlm.nih.gov/7515267
https://pubmed.ncbi.nlm.nih.gov/7515267
Autor:
L. Jankovic, G. D. Efremov, G. Petkov, C. Kattamis, E. George, K-G. Yang, T. A. Stoming, T. H. J. Huisman
Publikováno v:
British journal of haematology. 75(1)
In an ongoing effort to identify point mutations causing beta-thalassaemia, we have found two previously unreported mutations which are located in the Poly A site of the beta-globin gene. The screening programme used amplified DNA and dot-blot hybrid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43693735298f2f2885e231e750482f2
https://pubmed.ncbi.nlm.nih.gov/2375910
https://pubmed.ncbi.nlm.nih.gov/2375910
Autor:
R, Oner, C, Altay, A, Gurgey, M, Aksoy, Y, Kilinç, T A, Stoming, A L, Reese, A, Kutlar, F, Kutlar, T H, Huisman
Publikováno v:
Hemoglobin. 14(1)
A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::443e3593efb26ba43c67090bab43e854
https://pubmed.ncbi.nlm.nih.gov/2384312
https://pubmed.ncbi.nlm.nih.gov/2384312