Search Results - "Faà, Valeria"

Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels by Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina

“…Genome-Wide Association Studies (GWASs) have identified a huge number of variants associated with different traits. However, their validation through in vitro…”
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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis by Marcialis, Maria Antonietta, Faà, Valeria, Fanos, Vassilios, Puddu, Melania, Pintus, Maria Cristina, Cao, Antonio, Rosatelli, Maria Cristina

“…This paper describes the manifestaton in a child of a new syndrome characterized by unusual, severe, persistent hyponatremia associated with hyposmolarity,…”
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Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy by Meloni, Alessandra, Perniola, Roberto, Faà, Valeria, Corvaglia, Enrico, Cao, Antonio, Rosatelli, Maria Cristina

“…In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune…”
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Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene by Faà, Valeria, Masala, Maddalena, Cao, Antonio, Rosatelli, Maria Cristina

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Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy by MELONI, Alessandra, PERNIOLA, Roberto, FAA, Valeria, CORVAGLIA, Enrico, CAO, Antonio, ROSATELLI, Maria Cristina

“…In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune…”
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Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis by Caria, Cristian Antonio, Faà, Valeria, Ristaldi, Maria Serafina

“…Krüppel-like factor 1 (KLF1) plays a crucial role in erythropoiesis. In-depth studies conducted on mice and humans have highlighted its importance in erythroid…”
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A novel silent β‐thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF by Moi, Paolo, Faà, Valeria, Marini, Maria Giuseppina, Asunis, Isadora, Ibba, Giuseppe, Cao, Antonio, Rosatelli, Maria Cristina

“…Summary The silent β‐thalassemia mutation, β+‐101C→T, is the only mutation currently described in the distal β‐globin CACCC box. We present a novel mutation, a…”
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A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening by Faà, Valeria, Bettoli, Pietro Pellegrini, Demurtas, Maria, Zanda, Maurizio, Ferri, Vincenzina, Cao, Antonio, Rosatelli, Maria Cristina

“…Previous studies performed on Sardinian patients affected by cystic fibrosis (CF) have led to the identification of molecular defects in 87 of 88 patients. Two…”
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Thalassaemia‐like carriers not linked to the β‐globin gene cluster by Faà, Valeria, Meloni, Alessandra, Moi, Loredana, Ibba, Giuseppe, Travi, Maurizio, Vitucci, Antonio, Cao, Antonio, Rosatelli, Maria Cristina

“…Summary This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a β‐thalassaemia‐like phenotype in…”
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Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience by Monni, Giovanni, Cau, Giuseppina, Usai, Valeria, Perra, Graziella, Lai, Rosalba, Ibba, Giuseppe, Faà, Valeria, Incani, Federica, Rosatelli, Maria Cristina

“…Objectives To report the experiences on preimplantation genetic diagnosis (PGD) in couples at risk for ß‐thalassaemia in Sardinia. Methods 23 couples at risk…”
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Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene by Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A.Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M.Cristina

“…Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR…”
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A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis by Faa′, Valeria, Coiana, Alessandra, Incani, Federica, Costantino, Lucy, Cao, Antonio, Rosatelli, Maria Cristina

“…Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even…”
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Overexpression of the Cytokine BAFF and Autoimmunity Risk by Steri, Maristella, Orrù, Valeria, Idda, M. Laura, Pitzalis, Maristella, Pala, Mauro, Zara, Ilenia, Sidore, Carlo, Faà, Valeria, Floris, Matteo, Deiana, Manila, Asunis, Isadora, Porcu, Eleonora, Mulas, Antonella, Piras, Maria G, Lobina, Monia, Lai, Sandra, Marongiu, Mara, Serra, Valentina, Marongiu, Michele, Sole, Gabriella, Busonero, Fabio, Maschio, Andrea, Cusano, Roberto, Cuccuru, Gianmauro, Deidda, Francesca, Poddie, Fausto, Farina, Gabriele, Dei, Mariano, Virdis, Francesca, Olla, Stefania, Satta, Maria A, Pani, Mario, Delitala, Alessandro, Cocco, Eleonora, Frau, Jessica, Coghe, Giancarlo, Lorefice, Lorena, Fenu, Giuseppe, Ferrigno, Paola, Ban, Maria, Barizzone, Nadia, Leone, Maurizio, Guerini, Franca R, Piga, Matteo, Firinu, Davide, Kockum, Ingrid, Lima Bomfim, Izaura, Olsson, Tomas, Alfredsson, Lars, Suarez, Ana, Carreira, Patricia E, Castillo-Palma, Maria J, Marcus, Joseph H, Congia, Mauro, Angius, Andrea, Melis, Maurizio, Gonzalez, Antonio, Alarcón Riquelme, Marta E, da Silva, Berta M, Marchini, Maurizio, Danieli, Maria G, Del Giacco, Stefano, Mathieu, Alessandro, Pani, Antonello, Montgomery, Stephen B, Rosati, Giulio, Hillert, Jan, Sawcer, Stephen, D’Alfonso, Sandra, Todd, John A, Novembre, John, Abecasis, Gonçalo R, Whalen, Michael B, Marrosu, Maria G, Meloni, Alessandra, Sanna, Serena, Gorospe, Myriam, Schlessinger, David, Fiorillo, Edoardo, Zoledziewska, Magdalena, Cucca, Francesco

“…Genetic analysis revealed a gene variant in the Sardinian population that was associated with autoimmune disease. In the variant gene, a deletion yielded a…”
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Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program by Coiana, Alessandra, Faa', Valeria, Carta, Daniela, Puddu, Rosalba, Cao, Antonio, Rosatelli, Maria Cristina

“…Abstract Background In Sardinia the mutational spectrum of CFTR gene is well defined. A mutation detection rate of 94% can be achieved by screening for 15 CFTR…”
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Post-GWAS Validation of Target Genes Associated with HbF and HbA[sub.2] Levels by Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina

“…Genome-Wide Association Studies (GWASs) have identified a huge number of variants associated with different traits. However, their validation through in vitro…”
Get full text

Post-GWAS Validation of Target Genes Associated with HbF and HbA 2 Levels by Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina

“…Genome-Wide Association Studies (GWASs) have identified a huge number of variants associated with different traits. However, their validation through in vitro…”
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β‐defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients by Incani, Federica, Cossu, Carla, Meloni, Alessandra, Faà, Valeria, Serra, Maria Luisa, Dettori, Federico, Meloni, Antonella, Rosatelli, Maria Cristina

“…Objective The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the β‐defensin cluster could be associated with the…”
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Thalassaemia-like carriers not linked to the [beta]-globin gene cluster by Faà, Valeria, Meloni, Alessandra, Moi, Loredana, Ibba, Giuseppe

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A novel silent [beta]-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF by Moi, Paolo, Faà, Valeria, Marini, Maria Giuseppina, Asunis, Isadora

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[beta]-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients by Incani, Federica, Cossu, Carla, Meloni, Alessandra, Faa, Valeria, Serra, Maria Luisa, Dettori, Federico, Meloni, Antonella, Rosatelli, Maria Cristina

“…Objective The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the [beta]-defensin cluster could be associated with…”
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