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Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis

Cells (Basel, Switzerland), 2022-09, Vol.11 (19), p.3069

2022

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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

The Journal of molecular diagnostics : JMD, 2010-05, Vol.12 (3), p.380-383

2010

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Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program

Journal of cystic fibrosis, 2011-05, Vol.10 (3), p.207-211

2011

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Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels

Cells (Basel, Switzerland), 2024-07, Vol.13 (14), p.1185

2024

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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

The Journal of biological chemistry, 2009-10, Vol.284 (44), p.30024-30031

2009

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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Pediatric nephrology (Berlin, West), 2008-12, Vol.23 (12), p.2267-2271

2008

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Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy

The journal of clinical endocrinology and metabolism, 2002-02, Vol.87 (2), p.841-846

2002

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[beta]-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients

Journal of oral pathology & medicine, 2017-05, Vol.46 (5), p.393-397

2017

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

The journal of clinical endocrinology and metabolism, 2002-02, Vol.87 (2), p.841-846

2002

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Overexpression of the Cytokine BAFF and Autoimmunity Risk

The New England journal of medicine, 2017-04, Vol.376 (17), p.1615-1626

2017

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

Blood cells, molecules, & diseases, 2010-03, Vol.44 (3), p.156-158

2010

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

British journal of haematology, 2004-09, Vol.126 (6), p.881-884

2004

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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

The Journal of molecular diagnostics : JMD, 2006-09, Vol.8 (4), p.499-503

2006

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Thalassaemia‐like carriers not linked to the β‐globin gene cluster

British journal of haematology, 2006-03, Vol.132 (5), p.640-650

2006

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Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience

Prenatal diagnosis, 2004-12, Vol.24 (12), p.949-954

2004

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Post-GWAS Validation of Target Genes Associated with HbF and HbA[sub.2] Levels

Cells (Basel, Switzerland), 2024-07, Vol.13 (14)

2024

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Post-GWAS Validation of Target Genes Associated with HbF and HbA 2 Levels

Cells (Basel, Switzerland), 2024-07, Vol.13 (14)

2024

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Promoter mutations producing mild β‐thalassaemia in the Italian population

British journal of haematology, 1992-02, Vol.80 (2), p.222-226

1992

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

Journal of oral pathology & medicine, 2017-05, Vol.46 (5), p.393-397

2017

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

British journal of haematology, 2006-03, Vol.132 (5), p.640-650

2006

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

British journal of haematology, 2006-03, Vol.132 (5), p.640

2006

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

British journal of haematology, 2004-09, Vol.126 (6), p.881

2004

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A promoter mutation, C → T at position ‐92, leading to silent /3‐thalassaemia

British journal of haematology, 1995-06, Vol.90 (2), p.483-485

1995

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

Human genetics, 1992-08, Vol.89 (6), p.585-589

1992

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A promoter mutation, C arrow right T at position -92, leading to silent /3-thalassaemia

British journal of haematology, 1995-06, Vol.90 (2), p.483-485

1995

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Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis

Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program

Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy

[beta]-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients

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

Overexpression of the Cytokine BAFF and Autoimmunity Risk

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

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

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

Thalassaemia‐like carriers not linked to the β‐globin gene cluster

Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience

Post-GWAS Validation of Target Genes Associated with HbF and HbA[sub.2] Levels

Post-GWAS Validation of Target Genes Associated with HbF and HbA 2 Levels

Promoter mutations producing mild β‐thalassaemia in the Italian population

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

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

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

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 /3‐thalassaemia

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

A promoter mutation, C arrow right T at position -92, leading to silent /3-thalassaemia

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