Publications by authors named "Valeria Faa"

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Post-GWAS Validation of Target Genes Associated with HbF and HbA Levels.
Cristian Antonio Caria, Valeria Faà, Susanna Porcu, Maria Franca Marongiu, Daniela Poddie

Cells· July 2024

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Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.
Cristian Antonio Caria, Valeria Faà, Maria Serafina Ristaldi

Cells· September 2022

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β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.
Federica Incani, Carla Cossu, Alessandra Meloni, Valeria Faà, Maria Luisa Serra

J Oral Pathol Med· May 2017

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Overexpression of the Cytokine BAFF and Autoimmunity Risk.
Maristella Steri, Valeria Orrù, M Laura Idda, Maristella Pitzalis, Mauro Pala

N Engl J Med· April 2017

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Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
Alessandra Coiana, Valeria Faa', Daniela Carta, Rosalba Puddu, Antonio Cao

J Cyst Fibros· May 2011

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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.
Valeria Faa', Alessandra Coiana, Federica Incani, Lucy Costantino, Antonio Cao

J Mol Diagn· May 2010

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Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.
Valeria Faà, Maddalena Masala, Antonio Cao, Maria Cristina Rosatelli

Blood Cells Mol Dis· March 2010

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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.
Valeria Faà, Federica Incani, Alessandra Meloni, Denise Corda, Maddalena Masala

J Biol Chem· October 2009

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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
Maria Antonietta Marcialis, Valeria Faà, Vassilios Fanos, Melania Puddu, Maria Cristina Pintus

Pediatr Nephrol· December 2008

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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.
Valeria Faà, Pietro Pellegrini Bettoli, Maria Demurtas, Maurizio Zanda, Vincenzina Ferri

J Mol Diagn· September 2006

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Thalassaemia-like carriers not linked to the beta-globin gene cluster.
Valeria Faà, Alessandra Meloni, Loredana Moi, Giuseppe Ibba, Maurizio Travi

Br J Haematol· March 2006

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Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience.
Giovanni Monni, Giuseppina Cau, Valeria Usai, Graziella Perra, Rosalba Lai

Prenat Diagn· December 2004

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

Br J Haematol· September 2004

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Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Alessandra Meloni, Roberto Perniola, Valeria Faà, Enrico Corvaglia, Antonio Cao

J Clin Endocrinol Metab· February 2002

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