Loi A - Search Results

1

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: loi a. Prenat Diagn. 1994 Oct;14(10):999-1002. doi: 10.1002/pd.1970141018. Prenat Diagn. 1994. PMID: 7899276

2

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al. Figus A, et al. Among authors: loi a. Am J Hum Genet. 1995 Dec;57(6):1318-24. Am J Hum Genet. 1995. PMID: 8533760 Free PMC article.

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: loi a. Hum Genet. 1996 Dec;98(6):640-2. doi: 10.1007/s004390050275. Hum Genet. 1996. PMID: 8931691

4

Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis.

Pirastu M, Saglio G, Camaschella C, Loi A, Serra A, Bertero T, Gabutti W, Cao A. Pirastu M, et al. Among authors: loi a. Blood. 1988 Apr;71(4):983-8. Blood. 1988. PMID: 3355899 Free article.

5

Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.

Fossarello M, Zucca I, Galantuomo S, Serra A, Pirastu M, Loi A, Sole G, Cao A. Fossarello M, et al. Among authors: loi a. Int Ophthalmol. 1996-1997;20(1-3):1-5. doi: 10.1007/BF00212936. Int Ophthalmol. 1996. PMID: 9112154

6

Prenatal diagnosis of most common Mediterranean beta-thalassaemia mutants.

Loi A, Pirastu M, Cao A, Ulbridh R, Hansmann I. Loi A, et al. Lancet. 1986 Feb 1;1(8475):274. doi: 10.1016/s0140-6736(86)90808-1. Lancet. 1986. PMID: 2868284 No abstract available.

7

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

Angius A, De Gioia E, Loi A, Fossarello M, Sole G, Orzalesi N, Grignolo F, Cao A, Pirastu M. Angius A, et al. Among authors: loi a. Arch Ophthalmol. 1998 Jun;116(6):793-7. doi: 10.1001/archopht.116.6.793. Arch Ophthalmol. 1998. PMID: 9639450

8

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Among authors: loi a. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783

9

Molecular characterization of thalassemia intermedia in Italy.

Camaschella C, Saglio G, Serra A, Guerrasio A, Bertero T, Rege-Cambrin G, Loi A, Pirastu M. Camaschella C, et al. Among authors: loi a. Birth Defects Orig Artic Ser. 1987;23(5A):111-6. Birth Defects Orig Artic Ser. 1987. PMID: 3689891 No abstract available.

10

Beta thalassaemia mutations in Turkish Cypriots.

Sozuoz A, Berkalp A, Figus A, Loi A, Pirastu M, Cao A. Sozuoz A, et al. Among authors: loi a. J Med Genet. 1988 Nov;25(11):766-8. doi: 10.1136/jmg.25.11.766. J Med Genet. 1988. PMID: 3236356 Free PMC article.

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