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Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.
Published in:
1998
By:
- Angius, A.;
- Dessi, V.;
- Lovicu, M.;
- De Virgiliis, S.;
- Pirastu, M.;
- Cao, A.;
- Antonio, C.
Publication type:
journal article
Molecular Analysis of Atypical β-Thalassemia Heterozygotesa.
Published in:
Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 90, doi. 10.1111/j.1749-6632.1990.tb24294.x
By:
- PIRASTU, M.;
- RISTALDI, M. S.;
- LOUDIANOS, G.;
- MURRU, S.;
- SCIARRATTA, G. V.;
- PARODI, M. I.;
- LEONE, D.;
- AGOSTI, S.;
- CAO, A.
Publication type:
Article
Improvement of prenatal diagnosis of wilson disease using microsatellite markers.
Published in:
Prenatal Diagnosis, 1994, v. 14, n. 10, p. 999, doi. 10.1002/pd.1970141018
By:
- Loudianos, G.;
- Figus, A. L.;
- Loi, A.;
- Angius, A.;
- Dessì, V.;
- Deiana, M.;
- De Virgiliis, S.;
- Monni, G.;
- Cao, A.;
- Pirastu, M.
Publication type:
Article
Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.
Published in:
1989
By:
- Ristaldi, M S;
- Pirastu, M;
- Rosatelli, C;
- Monni, G;
- Erlich, H;
- Saiki, R;
- Cao, A
Publication type:
journal article
Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.
Published in:
Prenatal Diagnosis, 1989, v. 9, n. 9, p. 629, doi. 10.1002/pd.1970090906
By:
- Ristaldi, M. S.;
- Pirastu, M.;
- Rosatelli, C.;
- Monni, G.;
- Erlich, H.;
- Saiki, R.;
- Cao, A.
Publication type:
Article
Cohort mortality study of rubber and plastics product makers in Italy.
Published in:
Occupational Medicine, 1997, v. 47, n. 7, p. 417, doi. 10.1093/occmed/47.7.417
By:
- Ietri, E.;
- Belli, S.;
- Comba, P.;
- Gerosa, A.;
- Raffi, G. B.;
- Pirastu, R. M.
Publication type:
Article
DNA-BASED DIAGNOSIS OF WILSON DISEASE.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 1993, v. 17, n. 1, p. 112
By:
- Holmes, Ronald;
- P, Cossu;
- M, Pirastu;
- A, Nucaro
Publication type:
Article
Antenatal Diagnosis of Thalassemia Major in Sardiniaa.
Published in:
Annals of the New York Academy of Sciences, 1985, v. 445, n. 1, p. 380, doi. 10.1111/j.1749-6632.1985.tb17208.x
By:
- CAO, A.;
- COSSU, P.;
- FALCHI, A. M.;
- MONNI, G.;
- PIRASTU, M.;
- ROSATELLI, C.;
- SCALAS, M. T.;
- TUVERI, T.
Publication type:
Article
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 1, p. 25
By:
- Tenesa, A.;
- Wright, A.F.;
- Knott, S.A.;
- Carothers, A.D.;
- Hayward, C.;
- Angius, A.;
- Persico, I.;
- Maestrale, G.;
- Hastie, N.D.;
- Pirastu, M.;
- Visscher, P.M.
Publication type:
Article
Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases.
Published in:
British Journal of Cancer, 2000, v. 83, n. 12, p. 1707, doi. 10.1054/bjoc.2000.1513
By:
- Palmieri, G;
- Cossu, A;
- Ascierto, P A;
- Botti, G;
- Strazzullo, M;
- Lissia, A;
- Colombino, M;
- Casula, M;
- Floris, C;
- Tanda, F;
- Pirastu, M;
- Castello, G
Publication type:
Article
Identification of a founder BRCA2 mutation in Sardinia.
Published in:
British Journal of Cancer, 2000, v. 82, n. 3, p. 553, doi. 10.1054/bjoc.1999.0963
By:
- Pisano, M;
- Cossu, A;
- Persico, I;
- Palmieri, G;
- Angius, A;
- Casu, G;
- Palomba, G;
- Sarobba, M G;
- Rocca, P C Ossu;
- Dedola, M F;
- Olmeo, N;
- Pasca, A;
- Budroni, M;
- Marras, V;
- Pisano, A;
- Farris, A;
- Massarelli, G;
- Pirastu, M;
- Tanda, Francesco
Publication type:
Article
A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin.
Published in:
Human Mutation, 1992, v. 1, n. 2, p. 169, doi. 10.1002/humu.1380010215
By:
- Loudianos, G.;
- Murru, S.;
- Ristaldi, M. S.;
- Cossu, P.;
- Pilia, G.;
- Porcu, S.;
- Sciarratta, G. V.;
- Parodi, M. I.;
- Cao, A.;
- Pirastu, M.
Publication type:
Article
A novel β-globin structural mutant, Hb Brescia (β114 Leu-Pro), causing a severe β-thalassemia intermedia phenotype.
Published in:
Human Mutation, 1992, v. 1, n. 2, p. 124, doi. 10.1002/humu.1380010207
By:
- Murru, S.;
- Poddie, D.;
- Sciarratta, G. V.;
- Agosti, S.;
- Baffico, M.;
- Melevendi, C.;
- Pirastu, M.;
- Cao, A.
Publication type:
Article
Bitter Taste Study ina Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivityto the TAS2R38 Bitter Receptor Gene.
Published in:
Chemical Senses, 2004, v. 29, n. 8, p. 697, doi. 10.1093/chemse/bjh074
By:
- Prodi, D.A.;
- Drayna, D.;
- Forabosco, P.;
- Palmas, M.A.;
- Maestrale, G.B.;
- Piras, D.;
- Pirastu, M.;
- Angius, A.
Publication type:
Article
A β-thalassaemia phenotype not linked to the β-globin cluster in an Italian family.
Published in:
British Journal of Haematology, 1992, v. 81, n. 2, p. 283, doi. 10.1111/j.1365-2141.1992.tb08221.x
By:
- Murru, S.;
- Loudianos, G.;
- Porcu, S.;
- Sciarratta, G. V.;
- Agosti, S.;
- Parodi, M. I.;
- Cao, A.;
- Pirastu, M.
Publication type:
Article
The C-T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β thalassaemia in the Italian population.
Published in:
British Journal of Haematology, 1990, v. 74, n. 4, p. 480, doi. 10.1111/j.1365-2141.1990.tb06338.x
By:
- Ristaldi, M. S.;
- Murru, S.;
- Loudianos, G.;
- Casula, L.;
- Porcu, S.;
- Pigheddu, D.;
- Fanni, B.;
- Sciarratta, G. V.;
- Agosti, S.;
- Parodi, M. I.;
- Leone, D.;
- Camaschella, C.;
- Serra, A.;
- Pirastu, M.;
- Cao, A.
Publication type:
Article
Molecular characterization of a normal Hb A2β-thalassaemia determinant in a Sardinian family.
Published in:
British Journal of Haematology, 1987, v. 67, n. 2, p. 225, doi. 10.1111/j.1365-2141.1987.tb02331.x
By:
- Oggiano, L.;
- Pirastu, M.;
- Moi, P.;
- Longinotti, M.;
- Perseu, L.;
- Cao†, A.
Publication type:
Article
Molecular pathology of haemoglobin H disease in Sardinians.
Published in:
British Journal of Haematology, 1986, v. 63, n. 3, p. 485, doi. 10.1111/j.1365-2141.1986.tb07525.x
By:
- Paglietti, E.;
- Galanello, R.;
- Moi, P.;
- Pirastu, M.;
- Cao, A.
Publication type:
Article
THE PRENATAL DIAGNOSIS OF THALASSAEMIA.
Published in:
British Journal of Haematology, 1986, v. 63, n. 2, p. 215, doi. 10.1111/j.1365-2141.1986.tb05543.x
By:
- Cao, A.;
- Pirastu, M.;
- Rosatelli, C.
Publication type:
Article

Found: 19

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.

Molecular Analysis of Atypical β-Thalassemia Heterozygotes<sup>a</sup>.

Improvement of prenatal diagnosis of wilson disease using microsatellite markers.

Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.

Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.

Cohort mortality study of rubber and plastics product makers in Italy.

DNA-BASED DIAGNOSIS OF WILSON DISEASE.

Antenatal Diagnosis of Thalassemia Major in Sardinia<sup>a</sup>.

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.

Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases.

Identification of a founder BRCA2 mutation in Sardinia.

A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin.

A novel β-globin structural mutant, Hb Brescia (β<sub>114</sub> Leu-Pro), causing a severe β-thalassemia intermedia phenotype.

Bitter Taste Study ina Sardinian Genetic Isolate Supports the Association of Phenylthiocarbamide Sensitivityto the TAS2R38 Bitter Receptor Gene.

A β-thalassaemia phenotype not linked to the β-globin cluster in an Italian family.

The C-T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β thalassaemia in the Italian population.

Molecular characterization of a normal Hb A<sub>2</sub>β-thalassaemia determinant in a Sardinian family.

Molecular pathology of haemoglobin H disease in Sardinians.

THE PRENATAL DIAGNOSIS OF THALASSAEMIA.