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Gene therapy for RPE65-related retinal disease

Ophthalmic genetics, 2018-11, Vol.39 (6), p.671-677

2018

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ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE

Retina (Philadelphia, Pa.), 2018-07, Vol.38 (7), p.1427

2018

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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

American journal of human genetics, 2014-05, Vol.94 (5), p.755-759

2014

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Journal of medical genetics, 2013-10, Vol.50 (10), p.674-688

2013

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Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Ophthalmology (Rochester, Minn.), 2012-09, Vol.119 (9), p.1917-1923

2012

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Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles

Molecular therapy. Nucleic acids, 2022-09, Vol.29, p.823-835

2022

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ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis

Investigative ophthalmology & visual science, 2012-01, Vol.53 (1), p.461-469

2012

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Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases

JAMA ophthalmology, 2021-03, Vol.139 (3), p.291

Traboulsi, Elias I

2021

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Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions

Journal of AAPOS, 2009-12, Vol.13 (6), p.587-592

2009

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Surgical management of lens subluxation in Marfan syndrome

Journal of AAPOS, 2014-04, Vol.18 (2), p.140-146

2014

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Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2010-06, Vol.117 (6), p.1190-1198

2010

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Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome

Investigative ophthalmology & visual science, 2013-12, Vol.54 (13), p.8337-8344

2013

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Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success

Proceedings of the National Academy of Sciences - PNAS, 2005-04, Vol.102 (17), p.6177-6182

2005

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Successful pediatric DMEK facilitated by intracameral tissue plasminogen activator to mitigate anterior chamber fibrin reaction

American journal of ophthalmology case reports, 2020-09, Vol.19, p.100812, Article 100812

2020

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Overlapping Phenotypes in Congenital Ocular Malformations and the Importance of Molecular Testing

JAMA ophthalmology, 2019-04, Vol.137 (4), p.355

Traboulsi, Elias I

2019

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Best Practices for Building and Supporting Effective ACGME-Mandated Program Evaluation Committees

MedEdPORTAL, 2020-12, Vol.16, p.11039-11039

2020

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X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

American journal of human genetics, 2012-02, Vol.90 (2), p.247-259

2012

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Choroideremia: Effect of age on visual acuity in patients and female carriers

Ophthalmic genetics, 2012-06, Vol.33 (2), p.66-73

2012

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Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males

Eye (London), 2023-02, Vol.37 (2), p.350-355

2023

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Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein

Proceedings of the National Academy of Sciences - PNAS, 2005-07, Vol.102 (27), p.9553-9558

2005

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Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications

Survey of ophthalmology, 2021-09, Vol.66 (5), p.838-855

2021

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Outcomes of Strabismus Surgery with or without Trainee Participation as Surgeon

Ophthalmology (Rochester, Minn.), 2014-10, Vol.121 (10), p.2066-2069

2014

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A. Linn Murphree, MD: the Mississippi man who conquered retinoblastoma and changed the fate of patients and their families

Ophthalmic genetics, 2022-12, Vol.43 (6), p.729-730

2022

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Gene therapy for RPE65-related retinal disease

ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE

Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles

ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis

Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases

Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions

Surgical management of lens subluxation in Marfan syndrome

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome

Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success

Successful pediatric DMEK facilitated by intracameral tissue plasminogen activator to mitigate anterior chamber fibrin reaction

Overlapping Phenotypes in Congenital Ocular Malformations and the Importance of Molecular Testing

Best Practices for Building and Supporting Effective ACGME-Mandated Program Evaluation Committees

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Choroideremia: Effect of age on visual acuity in patients and female carriers

Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males

Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein

Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications

Outcomes of Strabismus Surgery with or without Trainee Participation as Surgeon

A. Linn Murphree, MD: the Mississippi man who conquered retinoblastoma and changed the fate of patients and their families

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