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Titolo Data di pubblicazione Autore(i) File
Fenomeni biochimici nella visione normale e patologica 1-gen-1997 Simonelli, Francesca; Rinaldi, Barbara; Rinaldi, E.
Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa 1-gen-1998 Simonelli, Francesca; Rinaldi, Michele; Nesti, A; Testa, Francesco; Rinaldi, E; Ciccodicola, A; Flagiello, L; Miano, Mg; Ventruto, V; D'Urso, M.
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity 1-gen-1998 DE CRECCHIO, G; Simonelli, Francesca; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, Francesco; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; CASTELLUCCIO P., Related
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa 1-gen-1999 Miano, Mg; Testa, Francesco; Strazzullo, M; Trujillo, M; De Bernardo, C; Grammatico, B; Simonelli, Francesca; 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.
Links Retinal degeneration associated with ectopia lentis 1-gen-1999 Simonelli, Francesca; DE CRECCHIO, G; Testa, Francesco; Nunziata, G; Mazzeo, S; Romano, N; Cavaliere, L; Rinaldi, Mm; RINALDI E., RELATED ARTICLES
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium 1-gen-2000 Allikmets, R; International ABCR Screening, Consortium; Tammur, J; Hutchinson, A; Lewis, Ra; Shroyer, Nf; Dalakishvili, K; Lupski, Jr; Steiner, K; Pauleikhoff, D; Holz, Fg; Weber, Bhf; Dean, M; Atkinson, A; Gail M., H; Bernstein, Ps; Singh, N; Zabriskie, N; Peiffer, A; Leppert, M; Seddon, Jm; Zhang, K; Sunness, Js; Udar, Ns; Yelchits, S; Silva Garcia, R; Small, Kw; Simonelli, Francesca; Testa, Francesco; D’ Urso, M; Brancato, R; Rinaldi, E; Ingvast, S; Taube, A; Wadelius, C; Souied, E; Ducroq, D; Kaplan, J; Assink, Jjm; ten Brink, Jb; de Jong, Ptvm; Bergen, Aab; Maugeri, A; van Driel, Ma; Hoyng, Cb; Cremers, Fpm; Paloma, E; Coco, R; Balcells, S; Gonzàlez Duarte, R; Kermani, S; Stanga, P; Bhattacharya, Ss; Bird, Ac
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease 1-gen-2000 Simonelli, F; Testa, Francesco; de Crecchio, G; Rinaldi, E; Hutchinson, A; Atkinson, A; Dean, M; D'Urso, M; Allikmets, R.
Related Articles, Links Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration 1-gen-2001 Sauer, Cg; White, K; Stohr, H; Grimm, T; Hutchinson, A; Bernstein, Ps; Lewis, Ra; Simonelli, Francesca; Pauleikhoff, D; Allikmets, R; Weber, Bh
Genetics of diabetic retinopathy 1-gen-2001 Simonelli, Francesca; Testa, Francesco; Bandello, F.
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains 1-gen-2001 Miano, Mg; Testa, Francesco; Filippini, F; Trujillo, M; Conte, I; Lanzara, C; Millán, Jm; De Bernardo, C; Grammatico, B; Mangino, M; Torrente, I; Carrozzo, R; Simonelli, Francesca; Rinaldi, E; Ventruto, V; D'Urso, M; Ayuso, C; Ciccodicola, A.
Novel missense mutations of TMPRSS3 in two consanguineous tunisian families with non-syndromic autosomal recessive deafness 1-gen-2001 Miano, Maria Giuseppina; Testa, Francesco; Filippini, Francesco; Trujillo, Mariajos; Conte, Ivan; Lanzara, Carmela; Milln, Jos Maria; De Bernardo, Carmelilia; Grammatico, Barbara; Mangino, Massimo; Torrente, Isabella; Carrozzo, Romeo; Simonelli, Francesca; Rinaldi, Ernesto; Ventruto, Valerio; Durso, Michele; Ayuso, Carmen; Ciccodicola, Alfredo
Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population 1-gen-2001 Simonelli, Francesca; Margaglione, M; Testa, Francesco; Cappucci, G; Manitto, Mp; Brancato, R; Rinaldi, E.
Serum oxidative and antioxidant parameters in a group of Italian patients with age-related maculopathy 1-gen-2002 Simonelli, Francesca; Zarrilli, F; Mazzeo, S; Verde, V; Romano, N; Savoia, M; Testa, Francesco; Vitale, Df; Rinaldi, Michele; SACCHETTI L., RELATED ARTICLES
An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration 1-gen-2002 Simonelli, Francesca; Testa, Francesco; Nesti, Anna; de Crecchio, Giuseppe; BIFANI SCONOCCHIA, Mario; Cavaliere, Maria Luisa; Rinaldi, Ernesto; Rinaldi, Maria Michela
The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe 1-gen-2002 Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P; Paloma, E; Patel, R; Rozet, Jm; Tammur, J; Testa, Francesco; Balcells, S; Bird, Ac; Brunner, Hg; Hoyng, Cb; Metspalu, A; Simonelli, Francesca; Allikmets, R; Bhattacharya, Ss; D'Urso, M; Gonzàlez Duarte, R; Kaplan, J; Te Meerman, Gj; Santos, R; Schwartz, M; Van Camp, G; Wadelius, C; Weber, Bh; Cremers, Fp
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 1-gen-2002 Conte, I; Lestingi, M; den Hollander, A; Miano, Mg; Alfano, G; Circolo, D; Pugliese, M; Testa, Francesco; Simonelli, Francesca; Rinaldi, E; Baiget, M; Banfi, Sandro; Ciccodicola, A.
PON1 gene polymorphisms in Italian age-related macular degeneration patients 1-gen-2003 Testa, Francesco; Simonelli, Francesca; Illiano, M; Tinto, N; Nesti, A; Manitto, M; Brancato, R; Sacchetti, L.
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in italian families 1-gen-2003 Simonelli, Francesca; Cennamo, G.; Ziviello, C.; Testa, Francesco; De Crecchio, G.; Nesti, A.; Manitto, M. P.; Ciccodicola, A.; Banfi, Sandro; Brancato, R.; Rinaldi, E.
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 1-gen-2003 Lavorgna, G; Lestingi, M; Ziviello, C; Testa, Francesco; Simonelli, Francesca; Manitto, Mp; Brancato, R; Ferrari, M; Rinaldi, E; Ciccodicola, A; Banfi, Sandro
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene 1-gen-2003 Jaakson, K; Zernant, J; Külm, M; Hutchinson, A; Tonisson, N; Glavac, D; Ravnik Glavac, M; Hawlina, M; Meltzer, Mr; Caruso, Rc; Testa, Francesco; Maugeri, A; Hoyng, Cb; Gouras, P; Simonelli, Francesca; Lewis, Ra; Lupski, Jr; Cremers, Fp; Allikmets, R.
Mostrati risultati da 41 a 60 di 250
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