Search Results - "D'Alcamo, Elena"

Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease by Listì, Florinda, Sclafani, Serena, Agrigento, Veronica, Barone, Rita, Maggio, Aurelio, D'Alcamo, Elena

“…The hemoglobinopathies, as β-thalassemia (β-thal) and sickle cell disease, are the most common hereditary hemolytic anemias. The increase of fetal hemoglobin…”
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Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures by Sclafani, Serena, Pecoraro, Alice, Agrigento, Veronica, Troia, Antonio, Di Maggio, Rosario, Sacco, Massimiliano, Maggio, Aurelio, D'Alcamo, Elena, Di Marzo, Rosalba

“…Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the…”
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Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients by D'Alcamo, Elena, Agrigento, Veronica, Sclafani, Serena, Vitrano, Angela, Cuccia, Liana, Maggio, Aurelio, Perrotta, Silverio, Capra, Marcello, Rigano, Paolo

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Prenatal Diagnosis of Cystic Fibrosis by Celocentesis by Giambona, Antonino, Vinciguerra, Margherita, Leto, Filippo, Cassarà, Filippo, Marchese, Giuseppe, Cigna, Valentina, Orlandi, Emanuela, Mugavero, Maria Elena, Cucinella, Gaspare, Maggio, Aurelio, Termini, Lisa, Makrydimas, George, D'Alcamo, Elena, Picciotto, Francesco

“…Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported…”
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Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique by D’Alcamo, Elena, Gullo, Giuseppe, Cucinella, Gaspare, Perino, Antonino, Burgio, Sofia, Etrusco, Andrea, Agrigento, Veronica, Sclafani, Serena, Listi, Florinda, Maggio, Aurelio, Vega, Igea, Laganà, Antonio Simone, Vitagliano, Amerigo, Noventa, Marco, Buzzaccarini, Giovanni

“…Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for…”
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RP1 Dominant p.Ser740 Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily by D'Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listì, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, Bertelli, Matteo, Costagliola, Ciro, Cordeiro, Maria Francesca, Maggio, Aurelio, D'Alcamo, Elena

“… Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay…”
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New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia by D’Alcamo, Elena, Agrigento, V., Pitrolo, L., Sclafani, S., Barone, R., Calvaruso, G., Buffa, V., Maggio, A.

“…Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading…”
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Congenital Dyserythropoietic Anemias: Molecular Diagnosis and Diagnostic Approach in a Cohort of Italian Patients by Agrigento, Veronica, Serena, Sclafani, Rigano, Paolo, Barone, Rita, Calvaruso, Giuseppina, Di Maggio, Rosario, Sacco, Massimiliano, Pitrolo, Lorella, Vitrano, Angela, Maggio, Aurelio, D'Alcamo, Elena

“…Introduction. Congenital dyserythropoietic anemias (CDAs) are hereditary rare erythropoietic disorder characterized by distinct morphological abnormalities of…”
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Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study by Agrigento, Veronica, Calvaruso, Giuseppina, Sclafani, Serena, Maggio, Aurelio, Lo Nigro, Valeria, D’Alcamo, Elena

“…Cardiac disease in thalassemia is determined by the accumulation of iron in the tissue. Genetic factors could influence the severity and the rapidity of the…”
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Glutathione S Transferase Polymorphisms Influence on Iron Overload in β-Thalassemia Patients by Sclafani, Serena, Calvaruso, Giuseppina, Agrigento, Veronica, Maggio, Aurelio, Lo Nigro, Valeria, D’Alcamo, Elena

“…In patients with β-thalassemia iron overload that leads to damage to vital organs is observed. Glutathione S transferase (GST) enzymes have an antioxidant role…”
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IRP1/I Dominant p.Ser740 Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily by D’Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listì, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, Bertelli, Matteo, Costagliola, Ciro, Cordeiro, Maria Francesca, Maggio, Aurelio, D’Alcamo, Elena

“…Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field,…”
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New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia by D'Alcamo, Elena, Agrigento, V, Pitrolo, L, Sclafani, S, Barone, R, Calvaruso, G, Buffa, V, Maggio, A

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Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population by Russo, M P, Romeo, G, Devoto, M, Barbujani, G, Cabrini, G, Giunta, A, D'Alcamo, E, Leoni, G, Sangiuolo, F, Magnani, C

“…Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located…”
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