Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Monica, Cannata"'
Autor:
Carmen Lo Pinto, Filippo Leto, Riccardo Ganci, Filippo Cassarà, Cristina Passarello, Aurelio Maggio, Lorella Pitrolo, Antonino Giambona, Margherita Vinciguerra, Paola Licari, Monica Cannata
Publikováno v:
Hemoglobin. 43:210-213
The evaluation of a 10-month-old girl of Sicilian origin with a clinical phenotype of severe thalassemia led to the identification of two β-globin gene defects, a β-thalassemia (β-thal), mutation a...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac5f80dfd011684882a4be60ba2db263
https://doi.org/10.1080/03630269.2019.1655030
https://doi.org/10.1080/03630269.2019.1655030
Autor:
Gianfranca Damiani, Margherita Vinciguerra, Cristina Jakil, Monica Cannata, Filippo Cassarà, Francesco Picciotto, Giovanna Schillaci, Valentina Cigna, Disma Renda, Aldo Volpes, Francesca Sammartano, Samuela Milone, Adolfo Allegra, Cristina Passarello, Filippo Leto, Antonino Giambona
Publikováno v:
Thalassemia Reports, Vol 4, Iss 2 (2014)
Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthes
Externí odkaz:
https://doaj.org/article/5368a77e1dfa40fab2029b9cfb1d1ab0
Autor:
Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Pina Lo Gioco, Filippo Leto, Cristina Passarello, Antonino Giambona
Publikováno v:
Thalassemia Reports, Vol 2, Iss 1, Pp e4-e4 (2012)
The Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at the Villa Sofia-Cervello Hospital in Palermo, Italy, carries out an intensive screening program aimed at identifying the healthy carriers of thalassemia and, consequently, the c
Externí odkaz:
https://doaj.org/article/16b4edcffb2b42b383119b6d9bd9d8ac
Autor:
Cristina Passarello, Antonino Giambona, Monica Cannata, Margherita Vinciguerra, Disma Renda, Aurelio Maggio
Publikováno v:
Haematologica, Vol 97, Iss 3 (2012)
Externí odkaz:
https://doaj.org/article/9fa9c1002caa4ac6a55e6d82e96c01f3
Autor:
Filippo Cassarà, Monica Cannata, Giuseppina Calvaruso, Margherita Vinciguerra, Antonino Giambona, Filippo Leto, Disma Renda, Cristina Passarello, Aurelio Maggio
Publikováno v:
Hemoglobin. 41:234-238
We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β+), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (-C) (β), NM_000518, HBB: c.316-42d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464c5395a97e5046e0abe2accf56baf9
https://doi.org/10.1080/03630269.2017.1397014
https://doi.org/10.1080/03630269.2017.1397014
Autor:
Filippo Cassarà, Cristina Passarello, Antonino Giambona, Giuseppina Calvaruso, Disma Renda, Margherita Vinciguerra, Filippo Leto, Monica Cannata, Aurelio Maggio
Publikováno v:
Journal of Clinical Pathology. 71:298-302
BackgroundThalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide.AimsTo develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thala
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07229b5225d160b53845a09bf77adf1d
https://doi.org/10.1136/jclinpath-2017-204651
https://doi.org/10.1136/jclinpath-2017-204651
Autor:
Monica, Cannata, Filippo, Cassarà, Margherita, Vinciguerra, Paola, Licari, Cristina, Passarello, Filippo, Leto, Carmen, Lo Pinto, Lorella, Pitrolo, Riccardo, Ganci, Aurelio, Maggio, Antonino, Giambona
Publikováno v:
Hemoglobin. 43(3)
The evaluation of a 10-month-old girl of Sicilian origin with a clinical phenotype of severe thalassemia led to the identification of two β-globin gene defects, a β-thalassemia (β-thal), mutation at IVS-I-110 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd60348c85fc16c83662c73b85701134
https://pubmed.ncbi.nlm.nih.gov/31456457
https://pubmed.ncbi.nlm.nih.gov/31456457
Autor:
Maddalena, Casale, Flora, Cozzolino, Saverio, Scianguetta, Piero, Pucci, Vittoria, Monaco, Gianmaria, Sanchez, Claudia, Santoro, Roberta, Rubino, Monica, Cannata, Silverio, Perrotta
Publikováno v:
Clinical biochemistry. 74
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes from clinically silent conditions to very severe disorders. In many cases, diagnosis is very difficult due to the instability of Hb mutants or the occur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::817f9150f84d0652a17860f694a7bb35
https://pubmed.ncbi.nlm.nih.gov/31493379
https://pubmed.ncbi.nlm.nih.gov/31493379
Autor:
Flora Cozzolino, Silverio Perrotta, Maddalena Casale, Saverio Scianguetta, Monica Cannata, Gianmaria Sanchez, Vittoria Monaco, Claudia Santoro, Roberta Rubino, Piero Pucci
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes from clinically silent conditions to very severe disorders. In many cases, diagnosis is very difficult due to the instability of Hb mutants or the occur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada46d579c1a35ffdf6ce0887d0bb77b
http://hdl.handle.net/11588/759827
http://hdl.handle.net/11588/759827
Autor:
Filippo Cassarà, Antonino Giambona, Margherita Vinciguerra, Monica Cannata, Aurelio Maggio, Filippo Leto, Cristina Passarello, Giorgio Marchese
Publikováno v:
Hemoglobin. 41:220-222
HBD: c.442T>C is a new mutation at the stop codon (TGA>CGA) of the δ-globin gene, which produces a new codon for arginine. This substitution causes a 51 nucleotides longer open reading frame determining the synthesis of a potential larger δ subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d4607c86611c7d945b9a56b2745fed
https://doi.org/10.1080/03630269.2017.1371036
https://doi.org/10.1080/03630269.2017.1371036