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Mutations in the ABCA4 ( ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

American journal of human genetics, 2000-10, Vol.67 (4), p.960-966

2000

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The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

Graefe's archive for clinical and experimental ophthalmology, 2005-02, Vol.243 (2), p.90-100

2005

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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene

American journal of human genetics, 2001-07, Vol.69 (1), p.198-203

2001

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Retinoic acid delays transcription of human retinal pigment neuroepithelium marker genes in ARPE-19 cells

Neuroreport, 2000-05, Vol.11 (7), p.1571-1579

2000

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USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

Human mutation, 2004-08, Vol.24 (2), p.185-185

2004

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The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16

Investigative ophthalmology & visual science, 2004-01, Vol.45 (1), p.30-35

2004

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Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

American journal of ophthalmology, 2000-12, Vol.130 (6), p.782-789

2000

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A randomized controlled clinical trial on the efficacy of radiation therapy in the control of subfoveal choroidal neovascularization in age-related macular degeneration : Radiation versus observation

Graefe's archive for clinical and experimental ophthalmology, 1998-05, Vol.236 (5), p.321-325

1998

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Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Human genetics, 2003-02, Vol.112 (2), p.156-163

2003

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Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)

Otology & neurotology, 2004-09, Vol.25 (5), p.699-706

2004

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Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

BMJ, 1996-10, Vol.313 (7064), p.1037-1040

International edition, 1996

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Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea

Molecular vision, 2003-04, Vol.9, p.138-143

2003

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Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS Gene

American journal of ophthalmology, 1996-06, Vol.121 (6), p.623-629

1996

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Peripheral retinal nonperfusion associated with chronic myeloid leukemia

American journal of ophthalmology, 2003-03, Vol.135 (3), p.404-406

2003

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Usher Syndrome Type III Can Mimic other Types of Usher Syndrome

Annals of otology, rhinology & laryngology, 2003-06, Vol.112 (6), p.525-530

2003

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Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive Hybridization

Genomics (San Diego, Calif.), 1999-06, Vol.58 (3), p.240-249

1999

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Endogenous endophthalmitis after otitis media

American journal of ophthalmology, 2004, Vol.137 (1), p.202-204

2004

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Null mutation in the human 11- cis retinol dehydrogenase gene associated with fundus albipunctatus

Ophthalmology (Rochester, Minn.), 2001-08, Vol.108 (8), p.1479-1484

2001

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Central areolar choroidal dystrophy associated with dominantly inherited drusen

British journal of ophthalmology, 2002-01, Vol.86 (1), p.91-96

2002

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Holmium laser thermal keratoplasty for hyperopia and astigmatism after photorefractive keratectomy

Journal of refractive surgery (1995), 2000-05, Vol.16 (3), p.317-322

2000

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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

Human molecular genetics, 1998-03, Vol.7 (3), p.355-362

1998

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Treatment of hyperopia with contact Ho:YAG laser thermal keratoplasty

Journal of refractive surgery (1995), 1999-01, Vol.15 (1), p.16

1999

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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Nature genetics, 1999-10, Vol.23 (2), p.217-221

1999

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The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

American journal of human genetics, 1999-04, Vol.64 (4), p.1024-1035

1999

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Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome

Graefe's archive for clinical and experimental ophthalmology, 2004-10, Vol.242 (10), p.892-897

2004

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Mutations in the ABCA4 ( ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene

Retinoic acid delays transcription of human retinal pigment neuroepithelium marker genes in ARPE-19 cells

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

A randomized controlled clinical trial on the efficacy of radiation therapy in the control of subfoveal choroidal neovascularization in age-related macular degeneration : Radiation versus observation

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea

Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS Gene

Peripheral retinal nonperfusion associated with chronic myeloid leukemia

Usher Syndrome Type III Can Mimic other Types of Usher Syndrome

Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive Hybridization

Endogenous endophthalmitis after otitis media

Null mutation in the human 11- cis retinol dehydrogenase gene associated with fundus albipunctatus

Central areolar choroidal dystrophy associated with dominantly inherited drusen

Holmium laser thermal keratoplasty for hyperopia and astigmatism after photorefractive keratectomy

Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

Treatment of hyperopia with contact Ho:YAG laser thermal keratoplasty

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome

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