Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Fabrizio Mastropietro"'
Autor:
Silvana Rinaldi, Antonio Amato, Maria Pia Cappabianca, Paola Grisanti, Enrica Foglietta, Paola Di Biagio, Fabrizio Mastropietro, D Ponzini
Publikováno v:
Hemoglobin. 31:375-378
A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their a
Autor:
Lidia Russo, Maria Pia Cappabianca, L. Felicetti, I Bianco, Paola Grisanti, Antonio Amato, Enrica Foglietta, Fabrizio Mastropietro
Publikováno v:
Hemoglobin. 27:267-274
In the past few decades, many varieties (∼20) of point mutations in the promoters of the Gγ‐ or Aγ‐globin genes that produce an overexpression of fetal hemoglobin (Hb) in adults, have been identifi...
Autor:
Antonio, Amato, Paola, Grisanti, Fabrizio, Mastropietro, Maria, Lerone, Maria Pia, Cappabianca, Donatella, Ponzini, Roberta, Piscitelli
Publikováno v:
Igiene e sanita pubblica. 70(1)
This article reviews the epidemiology and screening of sickle cell anemia in the Mediterranean area and in developing countries. Its aim is to create awareness of the global health burden of this condition, which is one of the most common genetic dis
Autor:
Roberta Piscitelli, Ivo Zaghis, Maria Pia Cappabianca, Paola Di Biagio, Fabrizio Mastropietro, Antonio Amato, Maria Perri, D Ponzini
Publikováno v:
Hemoglobin. 36(5)
We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-
Autor:
Maria Domenica Cappellini, Erika Biral, Guido Lucarelli, Giovanni Tonon, Giuliana Ferrari, Maria Grazia Roncarolo, Giulietta Maruggi, Riccardo Mezzadra, Marta Claudia Frittoli, Fabrizio Mastropietro, Fulvio Mavilio, Chiara Refaldi, Sarah Marktel, Marco Andreani, Antonio Amato, Emanuela Anna Roselli
beta-Thalassemia is a common monogenic disorder due to mutations in the beta-globin gene and gene therapy, based on autologous transplantation of genetically corrected haematopoietic stem cells (HSCs), holds the promise to treat patients lacking a co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05fee6e6b9f3692897bc0b1bcaeec8a8
A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val]
Autor:
Mariagiuseppina Pellegrini, Maria Pia Cappabianca, Barbara Manconi, Antonio Amato, D Ponzini, Cristiana Carelli Alinovi, Maria Cristina De Rosa, Alessandra Olianas, Fabrizio Mastropietro
Publikováno v:
Biochimica et biophysica acta. G, General subjects
1800 (2010): 327–335.
info:cnr-pdr/source/autori:Barbara Manconi; Maria Cristina De Rosa; Maria Pia Cappabianca; Alessandra Olianas; Cristiana Carelli Alinovi; Fabrizio Mastropietro; Donatella Ponzini; Antonio Amato; Mariagiuseppina Pellegrini/titolo:A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala->Val]/doi:/rivista:Biochimica et biophysica acta. G, General subjects (Print)/anno:2010/pagina_da:327/pagina_a:335/intervallo_pagine:327–335/volume:1800
1800 (2010): 327–335.
info:cnr-pdr/source/autori:Barbara Manconi; Maria Cristina De Rosa; Maria Pia Cappabianca; Alessandra Olianas; Cristiana Carelli Alinovi; Fabrizio Mastropietro; Donatella Ponzini; Antonio Amato; Mariagiuseppina Pellegrini/titolo:A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala->Val]/doi:/rivista:Biochimica et biophysica acta. G, General subjects (Print)/anno:2010/pagina_da:327/pagina_a:335/intervallo_pagine:327–335/volume:1800
Background: Haemoglobin Roma [beta115(G17)Ala->Val] is a new adult haemoglobin variant found in a patient presenting a mild hypochromia and microcytosis. We studied this previously uncharacterised variant in order to evaluate the effect on the struct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add9e0de072a1eb876fd23b1a94c41e6
http://hdl.handle.net/10807/62015
http://hdl.handle.net/10807/62015
Autor:
Antonio Amato, I Bianco, Enrica Foglietta, Fabrizio Mastropietro, Paola Di Biagio, Maria Pia Cappabianca, D Ponzini, Silvana Rinaldi, Paola Grisanti, Bruno Dallapiccola, Alessia Colosimo, Valentina Guida
Publikováno v:
Hemoglobin. 30(3)
In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parent
Autor:
Maria P, Cappabianca, Enrica, Foglietta, Paola, Grisanti, Fabrizio, Mastropietro, Lidia, Russo, Antonio, Amato, Luciano, Felicetti, Ida, Bianco
Publikováno v:
Hemoglobin. 27(4)
Autor:
Guido Modiano, I Bianco, Mauro Mezzabotta, Paola Di Biagio, Laura Maffei, Lerone M, Enrica Foglietta, D Ponzini, Antonio Amato, Maria Pia Cappabianca, Silvana Rinaldi, Paola Grisanti, Carmelo D'asero, Fabrizio Mastropietro
Publikováno v:
BMC Blood Disorders
BMC Blood Disorders, Vol 2, Iss 1, p 2 (2002)
BMC Blood Disorders, Vol 2, Iss 1, p 2 (2002)
Background The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype,