Rinaldi E - Search Results

1

Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.

Simonelli F, Rinaldi M, Nesti A, Testa F, Rinaldi E, Ciccodicola A, Flagiello L, Miano MG, Ventruto V, D'Urso M. Simonelli F, et al. Among authors: rinaldi e, rinaldi m. Br J Ophthalmol. 1998 Jun;82(6):709. doi: 10.1136/bjo.82.6.709. Br J Ophthalmol. 1998. PMID: 9797678 Free PMC article. No abstract available.

2

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: rinaldi e. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958

3

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R, Rinaldi E. Simonelli F, et al. Among authors: rinaldi e. Br J Ophthalmol. 2003 Sep;87(9):1130-4. doi: 10.1136/bjo.87.9.1130. Br J Ophthalmol. 2003. PMID: 12928282 Free PMC article.

4

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A. Conte I, et al. Among authors: rinaldi e. Gene. 2002 Sep 4;297(1-2):33-8. doi: 10.1016/s0378-1119(02)00872-7. Gene. 2002. PMID: 12384283

5

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Among authors: rinaldi e. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235

6

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola A, Rinaldi E, Banfi S. Ziviello C, et al. Among authors: rinaldi e. J Med Genet. 2005 Jul;42(7):e47. doi: 10.1136/jmg.2005.031682. J Med Genet. 2005. PMID: 15994872 Free PMC article.

7

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

Testa F, Rossi S, Passerini I, Sodi A, Di Iorio V, Interlandi E, Della Corte M, Menchini U, Rinaldi E, Torricelli F, Simonelli F. Testa F, et al. Among authors: rinaldi e. Br J Ophthalmol. 2008 Nov;92(11):1467-70. doi: 10.1136/bjo.2008.143776. Epub 2008 Aug 14. Br J Ophthalmol. 2008. PMID: 18703557

8

An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

Simonell F, Testa F, Nesti A, de Crecchio G, Bifani M, Cavaliere ML, Rinaldi E, Rinaldi MM. Simonell F, et al. Among authors: rinaldi e, rinaldi mm. J Pediatr Ophthalmol Strabismus. 2002 Sep-Oct;39(5):288-92. doi: 10.3928/0191-3913-20020901-09. J Pediatr Ophthalmol Strabismus. 2002. PMID: 12353901 Review.

9

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, Dean M, D'Urso M, Allikmets R. Simonelli F, et al. Among authors: rinaldi e. Invest Ophthalmol Vis Sci. 2000 Mar;41(3):892-7. Invest Ophthalmol Vis Sci. 2000. PMID: 10711710

10

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A, Banfi S. Lavorgna G, et al. Among authors: rinaldi e. Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21. doi: 10.1016/s0006-291x(03)01410-4. Biochem Biophys Res Commun. 2003. PMID: 12914764

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