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V Faa

Explore the profile of V Faa including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 9
Citations 43
Followers 0
Related Specialties
Genetics
Molecular Biology
Hematology
Top 10 Co-Authors
M C Rosatelli
A Meloni
A Cao
L Saba
R Sardu
M Demurtas
G B Leoni
A DOZY
T Tuveri
D Gasperini
Published In
Hum Mol Genet
Br J Haematol
Prenat Diagn
Am J Hum Genet
J Med Genet
Affiliations
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Recent Articles
1.
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
Rosatelli M, Meloni A, Faa V, Saba L, Crisponi G, Clemente M, et al.
J Med Genet . 1997 Feb; 34(2):122-5. PMID: 9039987
This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis...
2.
A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia
Rosatelli M, Faa V, Meloni A, Fiorenza F, Galanello R, Gasperini D, et al.
Br J Haematol . 1995 Jun; 90(2):483-5. PMID: 7794779
This study describes the clinical phenotype of the C-->T mutation at position -92 of the beta-globin gene. Excluding two cases with HbA2 levels within the range of the beta-thalassemia carrier...
3.
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
Faa V, Ventruto M, Loche S, Bozzola M, Podda R, Cao A, et al.
Hum Mol Genet . 1994 Sep; 3(9):1685-6. PMID: 7833930
No abstract available.
4.
A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier
Meloni A, Demurtas M, Moi L, Faa V, Cao A, Rosatelli M
Hum Mutat . 1994 Jan; 3(3):309-11. PMID: 8019567
No abstract available.
5.
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent
Saba L, Leoni G, Meloni A, Faa V, Cao A, Rosatelli M
Hum Mol Genet . 1993 Oct; 2(10):1739-40. PMID: 7505693
No abstract available.
6.
A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions
Faa V, Rosatelli M, Sardu R, Meloni A, TOFFOLI C, Cao A
Prenat Diagn . 1992 Nov; 12(11):903-8. PMID: 1494543
This study describes three couples at risk for homozygous beta-thalassaemia in which one of the partners carried a short deletion beta-thalassaemia defect. Detection of short deletions in trophoblast DNA was...
7.
Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population
Rosatelli M, Tuveri T, Scalas M, Leoni G, Sardu R, Faa V, et al.
Hum Genet . 1992 Aug; 89(6):585-9. PMID: 1511973
This paper reports our experience of molecular screening and fetal diagnosis of beta-thalassemia in 457 at risk couples of Italian descent. Molecular screening was carried out by dot blot analysis...
8.
Molecular characterization of beta-thalassemia in the Sardinian population
Rosatelli M, DOZY A, Faa V, Meloni A, Sardu R, Saba L, et al.
Am J Hum Genet . 1992 Feb; 50(2):422-6. PMID: 1734721
This study reports the molecular characterization of beta-thalassemia in the Sardinian population. Three thousand beta-thalassemia chromosomes from prospective parents presenting at the genetic service were initially analyzed by dot blot...
9.
Promoter mutations producing mild beta-thalassaemia in the Italian population
Meloni A, Rosatelli M, Faa V, Sardu R, Saba L, Murru S, et al.
Br J Haematol . 1992 Feb; 80(2):222-6. PMID: 1550780
In this study we have investigated the molecular basis for a mild form of beta-thalassaemia in three patients of Italian descent. In two, belonging to different families and affected by...