Zobrazeno 1 - 10
of 112
pro vyhledávání: '"E, Paglietti"'
Autor:
T. Tuveri, Maria Addis, M. Furbetta, Antonio Cao, Renzo Galanello, Maria Antonietta Melis, M. E. Paglietti
Publikováno v:
Clinical Genetics. 33:151-155
This paper describes a complex combination of four thalassemia genes (delta(+), beta(0), nondeletion and deletion alpha-thalassemia) in the spouse of a typical high Hb A2 beta-thalassemia carrier presenting for genetic counselling. This complex gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875d75f375a60d41322b0c0eb439cc43
https://doi.org/10.1111/j.1399-0004.1988.tb03430.x
https://doi.org/10.1111/j.1399-0004.1988.tb03430.x
Autor:
Susanna Barella, Renzo Galanello, E. Paglietti, Carla Sollaino, Antonio Cao, L Maccioni, Ilaria Doneddu, Maria G. Pirroni, C Perra
Publikováno v:
American Journal of Hematology. 59:273-278
Differentiation between heterozygous alpha-thalassemia and several phenotypically resembling alleles at the beta-globin gene cluster such as coinherited delta- and beta-thalassemia or gammadelta beta-thalassemia is a critical step in genetic counseli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::038d9a13dea848a6e339bbe3401d1051
https://doi.org/10.1002/(sici)1096-8652(199812)59:4<273::aid-ajh2>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199812)59:4<273::aid-ajh2>3.0.co
Autor:
E. Paglietti, L Maccioni, Maria Antonietta Melis, D. Gasperini, Maria Carla Sollaino, Renzo Galanello, L. Perseu, Antonio Cao
Publikováno v:
American Journal of Hematology. 57:43-47
In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5038c0026595703f90b6d39e4d22928e
https://doi.org/10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co
Publikováno v:
Hemoglobin. 22:65-67
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b04b00057f843c6eb114e073e28148a1
https://doi.org/10.3109/03630269809071518
https://doi.org/10.3109/03630269809071518
Autor:
Raffaella Origa, A. Sangalli, Renzo Galanello, Monica Mottes, Caterina Borgna-Pignatti, E. Fiumana, Maria Rita Gamberini, S. Armari, E. Paglietti
Osteoporosis and osteopenia are frequent complications of thalassemia major (TM) and intermedia (TI). Osteoporosis was found in 23/25 patients with TI and in 115/239 patients with TM. In TM, no association was found with specific polymorphisms in can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d03bc9f492785161a8edf526de29ba
http://hdl.handle.net/11392/1197365
http://hdl.handle.net/11392/1197365
Autor:
Carla Sollaino, C. Rosatelli, Susanna Barella, D. Gasperini, L. Paderi, A. Ideo, E. Paglietti, Renzo Galanello, D. Loi, Antonio Cao, L. Perseu
Publikováno v:
American Journal of Hematology. 46:79-81
In this study, we have defined by molecular analysis, the alpha, beta, and delta globin genotype in a group of individuals with normal or thal-like red cell indices but borderline hemoglobin (Hb)A2 levels, who were identified in a program for beta-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb738392074c4cf764f8451c910fe493
https://doi.org/10.1002/ajh.2830460204
https://doi.org/10.1002/ajh.2830460204
Autor:
L Perseu, E. Paglietti, D. Loi, Antonio Cao, D. Gasperini, Susanna Barella, Renzo Galanello, L. Paderi
Publikováno v:
British Journal of Haematology. 84:166-168
Increased haemoglobin (Hb) A2 levels associated with reduced mean corpuscular volume (MCV) and Hb content per cell (MCH) are the most typical features of heterozygous beta thalassaemia. However, double heterozygotes for alpha and beta thalassaemia ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56f7e528da2d387c6bc062e22a714ab3
https://doi.org/10.1111/j.1365-2141.1993.tb03042.x
https://doi.org/10.1111/j.1365-2141.1993.tb03042.x
Autor:
L. Paderi, O. Limongelli, A. Macciotta, E. Paglietti, M. Addis, Antonio Cao, G. Atzori, Renzo Galanello, M. I. Monne
Publikováno v:
British Journal of Haematology. 79:117-119
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd5fec0c54af88df20e0895ce3516d8b
https://doi.org/10.1111/j.1365-2141.1991.tb08018.x
https://doi.org/10.1111/j.1365-2141.1991.tb08018.x
Autor:
R, Paleari, E, Paglietti, A, Mosca, M, Mortarino, L, Maccioni, S, Satta, A, Cao, R, Galanello
Publikováno v:
Clinical chemistry. 45(1)
Hemoglobin J Sardegna [alpha50(CD8)His--Asn --Asp] is a human Hb variant in which a posttranslational deamidation process takes place, transforming an Asn to an Asp residue. This variant, particularly widespread in northern Sardinia, has for the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::31a43420f66bd541111f3b714f219082
https://pubmed.ncbi.nlm.nih.gov/9895333
https://pubmed.ncbi.nlm.nih.gov/9895333
Publikováno v:
Hemoglobin. 22(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bf0aabbb3ee3bdc1ff755208b47cc80
https://pubmed.ncbi.nlm.nih.gov/9494049
https://pubmed.ncbi.nlm.nih.gov/9494049