21 results for author:"Testa F." in Literature citations
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| Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. Esposito G., De Falco F., Tinto N., Testa F., Vitagliano L., Tandurella I.C., Iannone L., Rossi S., Rinaldi E., Simonelli F. et al. Hum. Mutat. 32:1460-1469(2011) · UniProtKB (1) |
| An atypical form of Bietti crystalline dystrophy. Rossi S., Testa F., Li A., Iorio V.D., Zhang J., Gesualdo C., Corte M.D., Chan C.C., Fielding Hejtmancik J., Simonelli F. Ophthalmic Genet. 32:118-121(2011) · Mapped (3) |
| 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. et al. Invest. Ophthalmol. Vis. Sci. 52:1281-1289(2011) · Mapped (9) |
| Flavohemoglobin and nitric oxide detoxification in the human protozoan parasite Giardia intestinalis. Mastronicola D., Testa F., Forte E., Bordi E., Pucillo L.P., Sarti P., Giuffre A. Biochem. Biophys. Res. Commun. 399:654-658(2010) · UniProtKB (1) |
| Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Bandah-Rozenfeld D., Collin R.W., Banin E., van den Born L.I., Coene K.L., Siemiatkowska A.M., Zelinger L., Khan M.I., Lefeber D.J., Erdinest I. et al. Am. J. Hum. Genet. 87:199-208(2010) · UniProtKB (1) · Mapped (2) |
| The O2-scavenging flavodiiron protein in the human parasite Giardia intestinalis. Di Matteo A., Scandurra F.M., Testa F., Forte E., Sarti P., Brunori M., Giuffre A. J. Biol. Chem. 283:4061-4068(2008) · UniProtKB (1) |
| Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene. Simonelli F., Testa F., Marini V., Interlandi E., Rossi S., Pognuz D.R., Virgili G., Garre C., Bandello F. Ophthalmic Res. 39:255-259(2007) · Mapped (2) |
| 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 P.E., Fossarello M., Signorini S., Bertone C., Galantuomo S. et al. Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007) · UniProtKB (4) · Mapped (6) |
| A novel mutation in the VMD2 gene in an Italian family with Best maculopathy. Sodi A., Passerini I., Simonelli F., Testa F., Menchini U., Torricelli F. J Fr Ophtalmol 30:616-620(2007) · Mapped (9) |
| Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. Testa F., Ziviello C., Rinaldi M., Rossi S., Di Iorio V., Interlandi E., Ciccodicola A., Banfi S., Simonelli F. Eur J Ophthalmol 16:779-781(2006) · Mapped (5) |
| 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 D.F., Manitto M.P., Brancato R., Rinaldi E., Sacchetti L. Br J Ophthalmol 90:1142-1145(2006) · Mapped (5) |
| A novel mutation in the RDS gene in an Italian family with pattern dystrophy. Testa F., Marini V., Rossi S., Interlandi E., Nesti A., Rinaldi M., Varano M., Garre C., Simonelli F. Br. J. Ophthalmol. 89:1066-1068(2005) · UniProtKB (1) |
| 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. Ophthalmic Res. 36:82-88(2004) · Mapped (8) |
| 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 M.P., Ciccodicola A., Banfi S., Brancato R. et al. Br J Ophthalmol 87:1130-1134(2003) · Mapped (2) |
| 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 M.P., Brancato R., Ferrari M., Rinaldi E., Ciccodicola A. et al. Biochem. Biophys. Res. Commun. 308:414-421(2003) · UniProtKB (2) |
| Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Conte I., Lestingi M., den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E. et al. |
| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Maugeri A., Flothmann K., Hemmrich N., Ingvast S., Jorge P., Paloma E., Patel R., Rozet J.M., Tammur J., Testa F. et al. Eur. J. Hum. Genet. 10:197-203(2002) · Mapped (8) |
| Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Miano M.G., Testa F., Filippini F., Trujillo M., Conte I., Lanzara C., Millan J.M., De Bernardo C., Grammatico B., Mangino M. et al. Hum. Mutat. 18:109-119(2001) · UniProtKB (1) |
| Further evidence for an association of ABCR alleles with age-related macular degeneration. Allikmets R., Tammur J., Hutchinson A., Lewis R.A., Shroyer N.F., Dalakishvili K., Lupski J.R., Steiner K., Pauleikhoff D., Holz F.G. et al. Am. J. Hum. Genet. 67:487-491(2000) · UniProtKB (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. Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) · UniProtKB (1) |
| Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Miano M.G., Testa F., Strazzullo M., Trujillo M., De Bernardo C., Grammatico B., Simonelli F., Mangino M., Torrente I., Ruberto G. et al. Eur. J. Hum. Genet. 7:687-694(1999) · UniProtKB (1) |