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Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa

Gene therapy, 2016-02, Vol.23 (2), p.196-204

2016

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The Association between Visual Acuity and Central Retinal Thickness in Retinitis Pigmentosa

Investigative ophthalmology & visual science, 2005-09, Vol.46 (9), p.3349-3354

2005

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Night Blindness and Abnormal Cone Electroretinogram ON Responses in Patients with Mutations in the GRM6 Gene Encoding mGluR6

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (13), p.4884-4889

2005

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Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis

Human gene therapy, 2010-08, Vol.21 (8), p.993-1004

2010

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RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

American journal of human genetics, 2003-11, Vol.73 (5), p.1131-1146

2003

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Mutations in the RPE65 Gene in Patients with Autosomal Recessive Retinitis Pigmentosa or Leber Congenital Amaurosis

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (6), p.3088-3093

1998

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Mutations in the gene encoding 11- cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Nature genetics, 1999-06, Vol.22 (2), p.188-191

1999

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Retinitis pigmentosa : the Friedenwald lecture

Investigative ophthalmology & visual science, 1993-04, Vol.34 (5), p.1659-1676

BERSON, E. L

1993

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Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

American journal of human genetics, 2001-05, Vol.68 (5), p.1295-1298

2001

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Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

American journal of human genetics, 2000-06, Vol.66 (6), p.1975-1978

2000

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Cone cGMP‐gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

Human mutation, 2005-03, Vol.25 (3), p.248-258

2005

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Disease Progression in Patients with Dominant Retinitis Pigmentosa and Rhodopsin Mutations

Investigative ophthalmology & visual science, 2002-09, Vol.43 (9), p.3027-3036

2002

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Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

Science (American Association for the Advancement of Science), 1994-06, Vol.264 (5165), p.1604-1608

1994

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A Retinitis Pigmentosa GTPase Regulator (RPGR)-Deficient Mouse Model for X-Linked Retinitis Pigmentosa (RP3)

Proceedings of the National Academy of Sciences - PNAS, 2000-03, Vol.97 (7), p.3649-3654

2000

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Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Experimental eye research, 2004-08, Vol.79 (2), p.167-173

2004

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Recessive NRL Mutations in Patients with Clumped Pigmentary Retinal Degeneration and Relative Preservation of Blue Cone Function

Proceedings of the National Academy of Sciences - PNAS, 2004-12, Vol.101 (51), p.17819-17824

2004

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Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation

Nature, 2004-01, Vol.427 (6969), p.75-78

2004

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Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

Nature genetics, 1997-02, Vol.15 (2), p.175-178

1997

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Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

Nature genetics, 1999-07, Vol.22 (3), p.248-254

1999

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Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy

Journal of medical genetics, 2005-06, Vol.42 (6), p.e38-e38

2005

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A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration

Investigative ophthalmology & visual science, 2004-11, Vol.45 (11), p.3863-3870

2004

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Mutations in ABCR (ABCA4) in Patients with Stargardt Macular Degeneration or Cone-Rod Degeneration

Investigative ophthalmology & visual science, 2001-09, Vol.42 (10), p.2229-2236

2001

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Mutations in RGR , encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

Nature genetics, 1999-12, Vol.23 (4), p.393-394

1999

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Barrier to Autointegration Factor Interacts with the Cone-Rod Homeobox and Represses Its Transactivation Function

The Journal of biological chemistry, 2002-11, Vol.277 (45), p.43288-43300

2002

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Retinitis Pigmentosa: Unfolding Its Mystery

Proceedings of the National Academy of Sciences - PNAS, 1996-05, Vol.93 (10), p.4526-4528

Berson, Eliot L.

1996

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Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa

The Association between Visual Acuity and Central Retinal Thickness in Retinitis Pigmentosa

Night Blindness and Abnormal Cone Electroretinogram ON Responses in Patients with Mutations in the GRM6 Gene Encoding mGluR6

Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis

RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

Mutations in the RPE65 Gene in Patients with Autosomal Recessive Retinitis Pigmentosa or Leber Congenital Amaurosis

Mutations in the gene encoding 11- cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Retinitis pigmentosa : the Friedenwald lecture

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

Cone cGMP‐gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

Disease Progression in Patients with Dominant Retinitis Pigmentosa and Rhodopsin Mutations

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

A Retinitis Pigmentosa GTPase Regulator (RPGR)-Deficient Mouse Model for X-Linked Retinitis Pigmentosa (RP3)

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Recessive NRL Mutations in Patients with Clumped Pigmentary Retinal Degeneration and Relative Preservation of Blue Cone Function

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy

A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration

Mutations in ABCR (ABCA4) in Patients with Stargardt Macular Degeneration or Cone-Rod Degeneration

Mutations in RGR , encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

Barrier to Autointegration Factor Interacts with the Cone-Rod Homeobox and Represses Its Transactivation Function

Retinitis Pigmentosa: Unfolding Its Mystery

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