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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Human genetics, 1998-10, Vol.103 (4), p.428-434

1998

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Two novel truncating variants of the AAAS gene causative of the triple A syndrome

Journal of endocrinological investigation, 2020-07, Vol.43 (7), p.973-982

2020

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Novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients

Genetics and molecular research, 2014-01, Vol.13 (4), p.9636-9641

2014

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Molecular characterization of β-thalassemia in the Sardinian population

American journal of human genetics, 1992-02, Vol.50 (2), p.422-426

1992

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Genotype-phenotype correlations in β-thalassemias

Blood reviews, 1994-03, Vol.8 (1), p.1-12

1994

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Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene

Journal of medical genetics, 2000-09, Vol.37 (9), p.712-713

2000

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Two novel mutations of the AIRE protein affecting its homodimerization properties

Human mutation, 2005-03, Vol.25 (3), p.319-319

2005

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

Journal of medical genetics, 1997-02, Vol.34 (2), p.122-125

1997

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Clinical experience of management of thalassemia: the Sardinian experience

Seminars in hematology, 1996-01, Vol.33 (1), p.66-75

1996

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High-risk pregnancy in beta-thalassemia major women. Report of three cases

Gynecologic and obstetric investigation, 2000-01, Vol.49 (2), p.137

2000

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Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus

Human molecular genetics, 1994-09, Vol.3 (9), p.1685-1686

1994

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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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Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience

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

2004

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

Human molecular genetics, 1993-10, Vol.2 (10), p.1739-1740

1993

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A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing

Indian journal of medical research (New Delhi, India : 1994), 2000-01, Vol.111, p.24

2000

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Thalassemia Intermedia Resulting From a Mild β-Thalassemia Mutation

Blood, 1989-02, Vol.73 (2), p.601-605

1989

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Chorionic villus sampling and acceptance rate of prenatal diagnosis

Prenatal diagnosis, 1987-09, Vol.7 (7), p.531-533

1987

Volltextzugriff (PDF)

LeCS: A Collaborative Case Study System

Intelligent Tutoring Systems, 2000, p.242-251

2000

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

Prenatal diagnosis, 1992-11, Vol.12 (11), p.903-907

1992

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A PROMOTER MUTATION OF THE β-GLOBIN GENE (–101 C → T) HAS AN AGE-RELATED EXPRESSION PATTERN

Blood, 1993-05, Vol.81 (10), p.2818-2819

1993

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Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients

Genetics and molecular research, 2014-11, Vol.13 (4), p.9636-9641

2014

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A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient

Human molecular genetics, 1993-01, Vol.2 (1), p.83-84

1993

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A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration

The Journal of pediatrics, 1995-08, Vol.127 (2), p.281-283

1995

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Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA

Journal of medical genetics, 1990-04, Vol.27 (4), p.249-251

1990

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Thalassemic trait caused by IVS II-1 (GAEA) mutation detected in a Spanish family

Haematologica (Roma), 2000-11, Vol.85 (11), p.1215

2000

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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Two novel truncating variants of the AAAS gene causative of the triple A syndrome

Novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients

Molecular characterization of β-thalassemia in the Sardinian population

Genotype-phenotype correlations in β-thalassemias

Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene

Two novel mutations of the AIRE protein affecting its homodimerization properties

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

Clinical experience of management of thalassemia: the Sardinian experience

High-risk pregnancy in beta-thalassemia major women. Report of three cases

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus

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

Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience

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

A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing

Thalassemia Intermedia Resulting From a Mild β-Thalassemia Mutation

Chorionic villus sampling and acceptance rate of prenatal diagnosis

LeCS: A Collaborative Case Study System

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

A PROMOTER MUTATION OF THE β-GLOBIN GENE (–101 C → T) HAS AN AGE-RELATED EXPRESSION PATTERN

Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients

A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient

A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration

Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA

Thalassemic trait caused by IVS II-1 (GAEA) mutation detected in a Spanish family

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