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Ciliary Neurotrophic Factor (CNTF) for Human Retinal Degeneration: Phase I Trial of CNTF Delivered by Encapsulated Cell Intraocular Implants

Proceedings of the National Academy of Sciences - PNAS, 2006-03, Vol.103 (10), p.3896-3901

2006

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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Lancet neurology, 2014-08, Vol.13 (8), p.777-787

2014

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Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

The journal of clinical endocrinology and metabolism, 2011-03, Vol.96 (3), p.E528-E535

2011

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The effects of gender and age on the range of the normal human electro-oculogram

Documenta ophthalmologica, 2015-12, Vol.131 (3), p.177-188

2015

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Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease

Human mutation, 2010-11, Vol.31 (11), p.1251-1260

2010

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Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a CTRP5 Gene Mutation

Investigative ophthalmology & visual science, 2005-09, Vol.46 (9), p.3363-3371

2005

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Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL

Human mutation, 2010-06, Vol.31 (6), p.E1472-E1483

2010

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Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

American journal of human genetics, 2003-05, Vol.72 (5), p.1315-1322

2003

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Nephropathic cystinosis : Posterior segment manifestations and effects of cysteamine therapy

Ophthalmology (Rochester, Minn.), 2006-06, Vol.113 (6), p.1002-1009

2006

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Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causing Progressive and Severe XLRS in a Cross-Sectional Family Study

Investigative ophthalmology & visual science, 2009-11, Vol.50 (11), p.5375

2009

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Isolated Ocular Disease Is Associated with Decreased Mucolipin-1 Channel Conductance

Investigative ophthalmology & visual science, 2008-07, Vol.49 (7), p.3134-3142

2008

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Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

Ophthalmic genetics, 2016, Vol.37 (1), p.44-52

2016

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Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations

Investigative ophthalmology & visual science, 2010-10, Vol.51 (10), p.5304-5313

2010

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Rapid vision loss associated with fludarabine administration

Retina (Philadelphia, Pa.), 2010-09, Vol.30 (8), p.1272-1277

2010

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Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia

Anesthesia and analgesia, 2009-08, Vol.109 (2), p.372-378

2009

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Mutations in NYX of individuals with high myopia, but without night blindness

Molecular vision, 2007-03, Vol.13, p.330-336

2007

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Central Visual Function and the NEI-VFQ-25 Near and Distance Activities Subscale Scores in People with Type 1 and 2 Diabetes

American journal of ophthalmology, 2005-06, Vol.139 (6), p.1042-1050

2005

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Autoantibodies to p75/LEDGF, a cell survival factor, found in patients with atypical retinal degeneration

Journal of autoimmunity, 2006-08, Vol.27 (1), p.17-27

2006

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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

BMC ophthalmology, 2004-06, Vol.4 (1), p.7-7

2004

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Waldenström's macroglobulinemia–associated retinopathy

Ophthalmology (Rochester, Minn.), 2004-03, Vol.111 (3), p.535-539

2004

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Absent optic chiasm presenting with horizontal nystagmus

Journal of pediatric ophthalmology and strabismus, 2010-05, Vol.47 (3), p.187-191

2010

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Menkes' syndrome: Ophthalmic findings

Ophthalmology (Rochester, Minn.), 2002-08, Vol.109 (8), p.1477-1483

2002

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Phase I Clinical Trial of Alitretinoin and Tamoxifen in Breast Cancer Patients: Toxicity, Pharmacokinetic, and Biomarker Evaluations

Journal of clinical oncology, 2001-05, Vol.19 (10), p.2754-2763

2001

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Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

Archives of ophthalmology (1960), 2003-09, Vol.121 (9), p.1316

2003

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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Ophthalmology (Rochester, Minn.), 2000-04, Vol.107 (4), p.783-789

2000

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Ciliary Neurotrophic Factor (CNTF) for Human Retinal Degeneration: Phase I Trial of CNTF Delivered by Encapsulated Cell Intraocular Implants

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

The effects of gender and age on the range of the normal human electro-oculogram

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease

Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a CTRP5 Gene Mutation

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Nephropathic cystinosis : Posterior segment manifestations and effects of cysteamine therapy

Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causing Progressive and Severe XLRS in a Cross-Sectional Family Study

Isolated Ocular Disease Is Associated with Decreased Mucolipin-1 Channel Conductance

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations

Rapid vision loss associated with fludarabine administration

Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia

Mutations in NYX of individuals with high myopia, but without night blindness

Central Visual Function and the NEI-VFQ-25 Near and Distance Activities Subscale Scores in People with Type 1 and 2 Diabetes

Autoantibodies to p75/LEDGF, a cell survival factor, found in patients with atypical retinal degeneration

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

Waldenström's macroglobulinemia–associated retinopathy

Absent optic chiasm presenting with horizontal nystagmus

Menkes' syndrome: Ophthalmic findings

Phase I Clinical Trial of Alitretinoin and Tamoxifen in Breast Cancer Patients: Toxicity, Pharmacokinetic, and Biomarker Evaluations

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

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