Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Cristina, Passarello"'
Autor:
Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of
Externí odkaz:
https://doaj.org/article/1123334782094f0f92fb59aba56dd920
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:
Antonino Giambona, Cristina Passarello, Margherita Vinciguerra, Rita Li Muli, Pietro Teresi, Maurizio Anzà, Gaetano Ruggeri, Disma Renda, Aurelio Maggio
Publikováno v:
Haematologica, Vol 93, Iss 9 (2008)
We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA2 values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequenc
Externí odkaz:
https://doaj.org/article/dac63fee170d4f5e9f686725398428de
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:
Gianfranca Damiani, Adolfo Allegra, A Volpes, C Jakil, George Makrydimas, Giovanna Schillaci, Antonino Giambona, Filippo Leto, Cristina Passarello, Aurelio Maggio, Kypros H. Nicolaides, Valentina Cigna, Giuseppe Stampone
Publikováno v:
Prenatal Diagnosis. 36:973-978
Objective The main problem to wide acceptability of celocentesis as earlier prenatal diagnosis is contamination of the sample by maternal cells. The objective of this study was to investigate the cellular composition of celomic fluid for morphologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48e67f2570baf676f24874cd3d1dc697
https://doi.org/10.1002/pd.4922
https://doi.org/10.1002/pd.4922