List of works - Alessandro Iannaccone

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

A new era in medical therapy for retinal degenerative disease?

scientific article published on 13 July 2014

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

scientific article published on 3 January 2015

Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium

scientific article

Age-related decline in VIP-positive parasympathetic nerve fibers in the human submacular choroid

scientific article published on February 2007

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

scientific article published on 01 August 2006

Author response: additional considerations in the utility of dark adaptometry for the diagnosis of age-related macular degeneration

scientific article published on 19 May 2014

Autoimmune Biomarkers in Age-Related Macular Degeneration: A Possible Role Player in Disease Development and Progression ⬇️

scientific article published on January 1, 2012

Autosomal Recessive Best Vitelliform Macular Dystrophy

scientific article published on 01 February 2011

Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss

scientific article published on 9 May 2012

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

scientific article

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

scientific article

Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and Apoptosis

scientific article

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

article

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

article

Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis

scientific article published on 01 December 1994

Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa

scientific article published on 01 January 1995

Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration.

scientific article

Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy.

scientific article

Effect of isosorbide mononitrate on the human optic nerve and choroidal circulations.

scientific article

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

scientific article

Estimation of macular pigment optical density in the elderly: test-retest variability and effect of optical blur in pseudophakic subjects

scientific article published on 21 March 2007

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Familial unilateral Brown syndrome

scientific article published on September 2002

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene

scientific article

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

scientific article

Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

scientific article

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy

scientific article published on 8 July 2015

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

scientific article

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

scientific article published on 4 January 2017

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

scientific article published in June 2001

Increasing evidence for syndromic phenotypes associated with RPGR mutations

scientific article published in April 2004

Low-noise electroretinogram recording techniques in retinitis pigmentosa

scientific article published on 01 January 1994

Macular pigment optical density in the elderly: findings in a large biracial Midsouth population sample

scientific article published on April 2007

Macular pigment optical density is related to cognitive function in older people

scientific article published on 15 January 2014

Measuring dark adaptation in the elderly: a predictor of who may develop macular degeneration?

scientific article published on 04 August 2014

Modulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.

scientific article published on 23 January 2014

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

scientific article

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

scientific article published on 24 August 2012

Predicting the pathogenicity of RPE65 mutations.

scientific article

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

scientific article

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

scientific article

Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.

scientific article published on 15 December 2016

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

scientific article published on 02 October 2006

The association of cataract with leukocyte telomere length in older adults: defining a new marker of aging

scientific article

Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

scientific article published on 4 October 2008

Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration

scientific article (publication date: 24 March 2011)

Visual evoked potentials in children with neurofibromatosis type 1.

scientific article published in July 2002

List of works by Alessandro Iannaccone

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

A new era in medical therapy for retinal degenerative disease?

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium

Age-related decline in VIP-positive parasympathetic nerve fibers in the human submacular choroid

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

Author response: additional considerations in the utility of dark adaptometry for the diagnosis of age-related macular degeneration

Autoimmune Biomarkers in Age-Related Macular Degeneration: A Possible Role Player in Disease Development and Progression ⬇️

Autosomal Recessive Best Vitelliform Macular Dystrophy

Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and Apoptosis

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis

Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa

Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration.

Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy.

Effect of isosorbide mononitrate on the human optic nerve and choroidal circulations.

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

Estimation of macular pigment optical density in the elderly: test-retest variability and effect of optical blur in pseudophakic subjects

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

Familial unilateral Brown syndrome

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Increasing evidence for syndromic phenotypes associated with RPGR mutations

Low-noise electroretinogram recording techniques in retinitis pigmentosa

Macular pigment optical density in the elderly: findings in a large biracial Midsouth population sample

Macular pigment optical density is related to cognitive function in older people

Measuring dark adaptation in the elderly: a predictor of who may develop macular degeneration?

Modulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

Predicting the pathogenicity of RPE65 mutations.

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

The association of cataract with leukocyte telomere length in older adults: defining a new marker of aging

Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration

Visual evoked potentials in children with neurofibromatosis type 1.