Pirastu M - Search Results

1

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

Loudianos G, Dessì V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Hum Mutat. 1998;12(2):89-94. doi: 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9671269

2

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.

Loudianos G, Figus AL, Loi A, Angius A, Dessì V, Deiana M, De Virgiliis S, Monni G, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Prenat Diagn. 1994 Oct;14(10):999-1002. doi: 10.1002/pd.1970141018. Prenat Diagn. 1994. PMID: 7899276

3

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.

Loudianos G, Dessì V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, Vajro P, Figus A, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Hum Genet. 1996 Dec;98(6):640-2. doi: 10.1007/s004390050275. Hum Genet. 1996. PMID: 8931691

4

The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.

Loudianos G, Dessi V, Lovicu M, Angius A, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Am J Hum Genet. 1998 Feb;62(2):484-5. doi: 10.1086/301724. Am J Hum Genet. 1998. PMID: 9463339 Free PMC article. No abstract available.

5

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

Angius A, Dessi V, Lovicu M, De Virgiliis S, Pirastu M, Cao A. Angius A, et al. Among authors: pirastu m. Eur J Pediatr. 1998 Feb;157(2):128-9. doi: 10.1007/s004310050783. Eur J Pediatr. 1998. PMID: 9504786

6

Haplotype and mutation analysis in Greek patients with Wilson disease.

Loudianos G, Dessì V, Lovicu M, Angius A, Kanavakis E, Tzetis M, Kattamis C, Manolaki N, Vassiliki G, Karpathios T, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Eur J Hum Genet. 1998 Sep-Oct;6(5):487-91. doi: 10.1038/sj.ejhg.5200219. Eur J Hum Genet. 1998. PMID: 9801873

7

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A. Loudianos G, et al. Among authors: pirastu m. Hum Mutat. 1999;14(4):294-303. doi: 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9. Hum Mutat. 1999. PMID: 10502776

8

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR, Sturniolo GC, Kocak N, Yuce A, Akar N, Pirastu M, Cao A. Loudianos G, et al. Among authors: pirastu m. J Med Genet. 1999 Nov;36(11):833-6. J Med Genet. 1999. PMID: 10544227 Free PMC article.

9

A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.

Loudianos G, Porcu S, Cossu P, Tannoia N, Vitucci A, Campanale D, Cao A, Pirastu M. Loudianos G, et al. Among authors: pirastu m. Hum Mutat. 1993;2(4):327-9. doi: 10.1002/humu.1380020417. Hum Mutat. 1993. PMID: 8401543 No abstract available.

10

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

Battisti C, Loudianos G, Rufa A, Dotti MT, Sangiorgi S, Dessì V, Lovicu M, Pirastu M, Federico A. Battisti C, et al. Among authors: pirastu m. Am J Med Genet. 1999 Jul 16;85(2):175-8. doi: 10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10406672

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