Fossarello M - Search Results

1

BIGH3 mutation spectrum in corneal dystrophies.

Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF. Munier FL, et al. Among authors: fossarello m. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. Invest Ophthalmol Vis Sci. 2002. PMID: 11923233

2

A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online.

Rozzo C, Fossarello M, Galleri G, Sole G, Serru A, Orzalesi N, Serra A, Pirastu M. Rozzo C, et al. Among authors: fossarello m. Hum Mutat. 1998;12(3):215-6. Hum Mutat. 1998. PMID: 10660331

3

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Simonelli F, et al. Among authors: fossarello m. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218

4

Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family.

Galantuomo MS, Fossarello M, Cuccu A, Farci R, Preising MN, Lorenz B, Napoli PE. Galantuomo MS, et al. Among authors: fossarello m. Clin Ophthalmol. 2016 Nov 25;10:2377-2382. doi: 10.2147/OPTH.S114568. eCollection 2016. Clin Ophthalmol. 2016. PMID: 27932860 Free PMC article.

5

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM. Gargiulo A, et al. Among authors: fossarello m. Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar. Invest Ophthalmol Vis Sci. 2011. PMID: 20861488 Free PMC article.

6

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

Gu S, Lennon A, Li Y, Lorenz B, Fossarello M, North M, Gal A, Wright A. Gu S, et al. Among authors: fossarello m. Lancet. 1998 Apr 11;351(9109):1103-4. doi: 10.1016/S0140-6736(05)79384-3. Lancet. 1998. PMID: 9660588 No abstract available.

7

A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.

Poehner WJ, Fossarello M, Rapoport AL, Aleman TS, Cideciyan AV, Jacobson SG, Wright AF, Danciger M, Farber DB. Poehner WJ, et al. Among authors: fossarello m. Mol Vis. 2000 Oct 30;6:192-8. Mol Vis. 2000. PMID: 11062306 Free article.

8

A novel OCT technique to measure in vivo the corneal adhesiveness for sodium carboxymethylcellulose in humans and its validity in the diagnosis of dry eye.

Napoli PE, Coronella F, Satta GM, Zucca IA, Fossarello M. Napoli PE, et al. Among authors: fossarello m. Invest Ophthalmol Vis Sci. 2014 Apr 24;55(5):3179-85. doi: 10.1167/iovs.13-13613. Invest Ophthalmol Vis Sci. 2014. PMID: 24764061

9

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.

Fossarello M, Bertini C, Galantuomo MS, Cao A, Serra A, Pirastu M. Fossarello M, et al. Arch Ophthalmol. 1996 Apr;114(4):448-56. doi: 10.1001/archopht.1996.01100130444016. Arch Ophthalmol. 1996. PMID: 8602784

10

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. Int Ophthalmol. 1996-1997;20(1-3):1-5. doi: 10.1007/BF00212936. Int Ophthalmol. 1996. PMID: 9112154

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