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181 results
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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: Testa F. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343
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: Testa F. Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292. Ophthalmic Genet. 1999. PMID: 10420198
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: Testa F. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958
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: Testa F. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235
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: Testa F. 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.
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: Testa F. Ophthalmic Res. 2005 May-Jun;37(3):159-67. doi: 10.1159/000086073. Epub 2005 May 7. Ophthalmic Res. 2005. PMID: 15942264
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: Testa F. J Med Genet. 2005 Jul;42(7):e47. doi: 10.1136/jmg.2005.031682. J Med Genet. 2005. PMID: 15994872 Free PMC article.
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