Search

Your search keyword '"Rinaldi, E"' showing total 7 results
Start Over Author "Rinaldi, E" Journal british journal of ophthalmology
7 results on '"Rinaldi, E"'

3. Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families

Author

Simonelli, F, Cennamo, G, Ziviello, C, Testa, F, de Crecchio, G, Nesti, A, Manitto, MP, Ciccodicola, A, Banfi, S, Brancato, R, and Rinaldi, E

Subjects
Retinal diseases -- Research, Health, Research
Abstract

Aims: To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene. Methods: Complete ophthalmic examinations, electroretinography and A [...]

Published
2003

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

Author

Francesco Testa, Lucia Sacchetti, Ernesto Rinaldi, Francesca Simonelli, Giulia Frisso, Maria Pia Manitto, Dino Franco Vitale, Rosario Brancato, R. Di Fiore, Simonelli, Francesca, Frisso, G, Testa, Francesco, DI FIORE, R, Vitale, Df, Manitto, Mp, Brancato, R, Rinaldi, E, Sacchetti, L., F., Simonelli, Frisso, Giulia, F., Testa, R., DI FIORE, D. F., Vitale, M. P., Manitto, R., Brancato, E., Rinaldi, and Sacchetti, Lucia

Subjects
Male, medicine.medical_specialty, Genotype, genetic structures, Single-nucleotide polymorphism, Retinography, Gastroenterology, Macular Degeneration, Cellular and Molecular Neuroscience, Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Alleles, Aged, Genetics, H+%28c%2E1277T>C%29+polymorphism%22">p.402Y>H (c.1277T>C) polymorphism, Polymorphism, Genetic, business.industry, Clinical Science - Extended Report, Odds ratio, Middle Aged, Macular degeneration, factor H, medicine.disease, eye diseases, Sensory Systems, Confidence interval, Ophthalmology, Editorial, Complement Factor H, Factor H, Attributable risk, Female, sense organs, business
Abstract

Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population. Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay. Results: The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; pH (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.

Published
2006

Catalog

Books, media, physical & digital resources
See catalog results