Zobrazeno 1 - 10
of 45
pro vyhledávání: '"G V, Sciarratta"'
Autor:
M S Rady, G V Sciarratta, Ibtessam R. Hussein, A S Khalifa, S A Temtamy, M Baffico, N M Heshmat, S el-Moselhy, G Romeo
Publikováno v:
Scopus-Elsevier
beta-Thalassemia is a significant public health problem in Egypt where over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. A preventive program of the disease should be multifaceted with its technical componen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0b129aea1ba2ca36a47f7bb282066e
https://doi.org/10.3109/03630269708997511
https://doi.org/10.3109/03630269708997511
Autor:
M. I. Parodi, C Camaschella, Antonio Cao, P Cerruti, M. Pirastu, S. Agosti, Stefania Murru, G. V. Sciarratta, Georgios Loudianos, Manila Deiana
Publikováno v:
Blood. 77:1342-1347
In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c789ae71f1bed8e95f1499cb639839
https://doi.org/10.1182/blood.v77.6.1342.1342
https://doi.org/10.1182/blood.v77.6.1342.1342
Autor:
G. Ivaldi, J. B. Wilson, Titus H.J. Huisman, G. V. Sciarratta, W. Zhao, Brooke B. Webber, M. Ripamonti
Publikováno v:
Hemoglobin. 14:463-466
Hb Abruzzo was discovered in 1972 by Tentori et al. (1,2) in two brothers from a village in Abruzzo. Both had the compound heterozygosity of this variant and an apparent β o -thalassemia, and suffered from a mild hemolytic anemia, splenomegaly, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::003e45798460d5a4efd8096c39dbd9e0
https://doi.org/10.3109/03630269009032009
https://doi.org/10.3109/03630269009032009
Autor:
G. Ivaldi, G. V. Sciarratta, M. Ripamonti, W. Zhao, C. Petrini, Titus H.J. Huisman, J. B. Wilson
Publikováno v:
Hemoglobin. 14:459-461
Hb Camperdown was discovered in 1975 in a Maltese family living in Australia (1). This slightly unstable variant, which can be separated from Hb A by various electrophoretic and chromatographic techniques, constituted nearly 50% of the hemoglobin (Hb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::befea2f6fbf927e92de36febbd5b182c
https://doi.org/10.3109/03630269009032008
https://doi.org/10.3109/03630269009032008
Autor:
Mario Pirastu, Georgios Loudianos, Giuseppe Pilia, M. S. Ristaldi, G. V. Sciarratta, S. Porcu, Antonio Cao, Stefania Murru, M. I. Parodi, P. Cossu
Publikováno v:
Human mutation. 1(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d9ecaad4c132fca05e272a3b6a8233
https://pubmed.ncbi.nlm.nih.gov/1301204
https://pubmed.ncbi.nlm.nih.gov/1301204
Autor:
Mario Pirastu, Antonio Cao, Stefania Murru, D. Poddie, M. Baffico, S. Agosti, C. Melevendi, G. V. Sciarratta
Publikováno v:
Human mutation. 1(2)
This study describes a patient with a thalassemia intermedia-like phenotype in whom beta-globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T-C substitution at codon 114 of the beta-globin gene arising as a de novo mutation. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173aa52e33d3d7a22b483c3bf99cbe34
https://pubmed.ncbi.nlm.nih.gov/1301199
https://pubmed.ncbi.nlm.nih.gov/1301199
Autor:
S, Murru, G, Loudianos, M, Deiana, C, Camaschella, G V, Sciarratta, S, Agosti, M I, Parodi, P, Cerruti, A, Cao, M, Pirastu
Publikováno v:
Blood. 77(6)
In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d3cc79d4af27a38fbc2471f8f1656fc2
https://pubmed.ncbi.nlm.nih.gov/2001456
https://pubmed.ncbi.nlm.nih.gov/2001456
Autor:
S, Murru, G, Loudianos, A, Cao, S, Vaccargiu, M, Pirastu, G V, Sciarratta, S, Agosti, M I, Parodi
Publikováno v:
Blood. 76(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a0ad361cf417cd7b7e4411ffff17fc2
https://pubmed.ncbi.nlm.nih.gov/2242438
https://pubmed.ncbi.nlm.nih.gov/2242438
Autor:
G. V. Sciarratta, G. Ivaldi
Publikováno v:
Hemoglobin. 14(1)
Hb Matera is a newly discovered, slow-moving, beta chain variant observed in four members of an Italian family. The variant had a decreased stability in heat and isopropanol tests and numerous red cells contained inclusion bodies. Structural analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7326264cd043b0b5688b4158f123e779
https://pubmed.ncbi.nlm.nih.gov/2384314
https://pubmed.ncbi.nlm.nih.gov/2384314
Autor:
Antonio Cao, M. Pirastu, Stefania Murru, G. Loudianos, G. V. Sciarratta, M. I. Parodi, M. S. Ristaldi, D. Leone, S. Agosti
Publikováno v:
Annals of the New York Academy of Sciences. 612
This paper reviews the molecular pathology of a heterogeneous group of beta-thalassemia heterozygotes which may be referred to as atypical beta-thalassemia. This group includes four different categories of heterozygous beta-thalassemia, which are cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5705fbf5a8d2401c38a1224bf16a222e
https://pubmed.ncbi.nlm.nih.gov/2291578
https://pubmed.ncbi.nlm.nih.gov/2291578