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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaHuman CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeAdvancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano SymposiumCirculating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and ApoptosisUsing genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degenerationPredicting the pathogenicity of RPE65 mutations.Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.Effect of isosorbide mononitrate on the human optic nerve and choroidal circulations.Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration.Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.The association of cataract with leukocyte telomere length in older adults: defining a new marker of aging.Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy.Age-related decline in VIP-positive parasympathetic nerve fibers in the human submacular choroidRetinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseHigh-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacyModulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Familial unilateral Brown syndrome.Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual lossTreatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.Increasing evidence for syndromic phenotypes associated with RPGR mutations.Visual evoked potentials in children with neurofibromatosis type 1.Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM GeneAutosomal Recessive Best Vitelliform Macular DystrophyClinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4GeneRetinal Phenotype of an X-Linked Pseudo-usher Syndrome in Association with the G173R Mutation in the RPGR GeneCorrelation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosaLow-noise electroretinogram recording techniques in retinitis pigmentosaClinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosisRetinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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Alessandro Iannaccone
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0000-0001-5737-8424