Zobrazeno 1 - 10 of 869 pro vyhledávání: '"Galanello, R."'
1
Akademický článek
Longitudinal analysis of heart and liver iron in thalassemia major patients according to chelation treatment
Autor: Danjou, F., Origa, R., Anni, F., Saba, L., Cossa, S., Podda, G., Galanello, R.
Publikováno v: In Blood Cells, Molecules and Diseases October 2013 51(3):142-145
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3
Akademický článek
Red cell pyruvate kinase deficiency in Southern Sardinia
Autor: Perseu, L., Giagu, N., Satta, S., Sollaino, M.C., Congiu, R., Galanello, R.
Publikováno v: In Blood Cells, Molecules and Diseases 2010 45(4):280-283
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4
Akademický článek
Molecular Comparison of δ β -thalassemia and Hereditary Persistence of Fetal Hemoglobin DNAs: Evidence of a Regulatory Area?
Autor: Ottolenghi, S., Giglioni, B., Taramelli, R., Comi, P., Mazza, U., Saglio, G., Camaschella, C., Izzo, P., Cao, A., Galanello, R., Gimferrer, E., Baiget, M., Gianni, A. M.
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1982 Apr 01. 79(7), 2347-2351.
Externí odkaz: https://www.jstor.org/stable/11627
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5
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Autor: Traeger-Synodinos, J., Harteveld, C.L., Old, J.M., Petrou, M., Galanello, R., Giordano, P., Angastioniotis, M., Salle, B. de la, Henderson, S., May, A., EMQN Haemoglobinopathies Best
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 23(4), 426-437
Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90696393373e239a441d9971d8ce9357
http://europepmc.org/articles/PMC4666573
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6
Akademický článek
Myocardial Iron Loading in Patients with Thalassemia Major on Deferoxamine Chelation.
Autor: Tanner, M. A.1, Galanello, R.2, Dessi, C.2, Westwood, M. A.1, Smith, G. C.1, Nair, S. V.3, Anderson, L. J.1, Walker, J. M.3, Pennell, D. J.1
Publikováno v: Journal of Cardiovascular Magnetic Resonance (Taylor & Francis Ltd). Jul2006, Vol. 8 Issue 3, p543-547. 5p. 6 Graphs.
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7
Cardiovascular Function and Treatment in β-Thalassemia Major
Autor: Pennell, Dj, Udelson, Je, Arai, Ae, Bozkurt, B, Cohen, Ar, Galanello, R, Hoffman, Tm, Kiernan, Ms, Lerakis, S, Piga, Antonio Giulio, Porter, Jb, Walker, Jm, Wood, J, American Heart Association Committee on Heart Failure, Transplantation of the Council on Clinical Cardiology, Council on Cardiovascular Radiology, Imaging
Publikováno v: Circulation. 128:281-308
This aim of this statement is to report an expert consensus on the diagnosis and treatment of cardiac dysfunction in β-thalassemia major (TM). This consensus statement does not cover other hemoglobinopathies, including thalassemia intermedia and sic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f113248236fc11a91d2516a5e834c8
https://doi.org/10.1161/cir.0b013e31829b2be6
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8
Healing of broken human chromosomes by the addition of telomeric repeats
Autor: Flint, J, Craddock, CF, Villegas, A, Bentley, DP, Williams, HJ, Galanello, R, Cao, A, Wood, WG, Ayyub, H, Higgs, DR
We have characterized and compared a series of naturally occurring chromosomal truncations involving the terminal region of the short arm of human chromosome 16 (16p13.3). All six broken chromosomes appear to have been stabilized by the direct additi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::702206713cf74afe27c8062a80e7d122
https://ora.ox.ac.uk/objects/uuid:5b4990fa-a868-4dda-908d-1a873126c697
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10
Development of a new disease severity scoring system for patients with non-transfusion-dependent thalassemia
Autor: Cappellini, M.D. Porter, J.B. Musallam, K.M. Kattamis, A. Viprakasit, V. Galanello, R. Taher, A.T.
Background Patients with non-transfusion-dependent thalassemia (NTDT) present with a spectrum of disease severities. Since there are multiple pathophysiologies in such patients, tailoring treatment remains essential. Therefore, one simple, reliable t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::b171ff48f41c7c6fc8a266641b3b184c
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3124577
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