List of works - Valeria Faà

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.

scientific article published on September 2006

A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier

scientific article published on 01 January 1994

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF

scientific article published on 01 September 2004

A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia

scientific article published on 01 June 1995

A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions

scientific article published on 01 November 1992

Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene

scientific article published on 01 February 2010

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

scientific article published on 15 September 2009

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy

scientific article published on 01 February 2002

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

scientific article

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population

scientific article published on 01 August 1992

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

scientific article published on 12 July 2008

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

Promoter mutations producing mild beta-thalassaemia in the Italian population

scientific article published on 01 February 1992

Thalassaemia-like carriers not linked to the beta-globin gene cluster

scientific article published on 01 March 2006

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent

scientific article published on 01 October 1993

β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.

scientific article

List of works by Valeria Faà

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.

A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF

A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia

A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions

Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Promoter mutations producing mild beta-thalassaemia in the Italian population

Thalassaemia-like carriers not linked to the beta-globin gene cluster

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent

β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.