Banfi S - Search Results

1

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: banfi s. 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.

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 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: banfi s. Gene. 2002 Sep 4;297(1-2):33-8. doi: 10.1016/s0378-1119(02)00872-7. Gene. 2002. PMID: 12384283

3

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi S. Conte I, et al. Among authors: banfi s. Eur J Hum Genet. 2003 Feb;11(2):155-62. doi: 10.1038/sj.ejhg.5200942. Eur J Hum Genet. 2003. PMID: 12634863

4

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: banfi s. 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

5

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: banfi s. J Med Genet. 2005 Jul;42(7):e47. doi: 10.1136/jmg.2005.031682. J Med Genet. 2005. PMID: 15994872 Free PMC article.

6

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. Testa F, et al. Among authors: banfi s. Eur J Ophthalmol. 2006 Sep-Oct;16(5):779-81. doi: 10.1177/112067210601600524. Eur J Ophthalmol. 2006. PMID: 17061239

7

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

8

Identification and expression analysis of novel Jakmip1 transcripts.

Costa V, Conte I, Ziviello C, Casamassimi A, Alfano G, Banfi S, Ciccodicola A. Costa V, et al. Among authors: banfi s. Gene. 2007 Nov 1;402(1-2):1-8. doi: 10.1016/j.gene.2007.07.001. Epub 2007 Jul 14. Gene. 2007. PMID: 17761393

9

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL. den Hollander AI, et al. Among authors: banfi s. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1864-72. doi: 10.1167/iovs.08-2497. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074801 Free PMC article.

10

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G. Criscuolo C, et al. Among authors: banfi s. J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12. J Neurol. 2009. PMID: 19363635

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