Rinaldi E - Search Results

1

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

2

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R. Simonelli F, et al. Among authors: rinaldi e. Ophthalmic Res. 2004 Mar-Apr;36(2):82-8. doi: 10.1159/000076886. Ophthalmic Res. 2004. PMID: 15017103

3

Genotype-phenotype correlation in Italian families with Stargardt disease.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Allikmets R, Rinaldi E. Simonelli F, et al. Among authors: rinaldi e. Ophthalmic Res. 2005 May-Jun;37(3):159-67. doi: 10.1159/000086073. Epub 2005 May 7. Ophthalmic Res. 2005. PMID: 15942264

4

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: rinaldi e. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218

5

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.

6

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

Simonelli F, Frisso G, Testa F, di Fiore R, Vitale DF, Manitto MP, Brancato R, Rinaldi E, Sacchetti L. Simonelli F, et al. Among authors: rinaldi e. Br J Ophthalmol. 2006 Sep;90(9):1142-5. doi: 10.1136/bjo.2006.096487. Epub 2006 Jun 14. Br J Ophthalmol. 2006. PMID: 16774956 Free PMC article.

7

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.

8

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. de Crecchio G, et al. Among authors: rinaldi e, rinaldi mm. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343

9

Retinal degeneration associated with ectopia lentis.

Simonelli F, De Crecchio G, Testa F, Nunziata G, Mazzeo S, Romano N, Cavaliere L, Rinaldi MM, Rinaldi E. Simonelli F, et al. Among authors: rinaldi e, rinaldi mm. Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292. Ophthalmic Genet. 1999. PMID: 10420198

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

381 results

Search Page

Filters