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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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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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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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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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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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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 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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X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

Investigative ophthalmology & visual science, 2000-08, Vol.41 (9), p.2712-2721

2000

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Mutation Spectrum of the Gene Encoding the β Subunit of Rod Phosphodiesterase Among Patients with Autosomal Recessive Retinitis Pigmentosa

Proceedings of the National Academy of Sciences - PNAS, 1995-04, Vol.92 (8), p.3249-3253

1995

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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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Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde- binding protein in a form of retinitis punctata albescens

Investigative ophthalmology & visual science, 1999-04, Vol.40 (5), p.1000-1004

1999

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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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Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Nature genetics, 1998-02, Vol.18 (2), p.174-176

1998

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Frequency of mutations in the gene encoding the α subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa

Investigative ophthalmology & visual science, 1999-07, Vol.40 (8), p.1859-1865

1999

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Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa

Investigative ophthalmology & visual science, 1997-09, Vol.38 (10), p.1972-1982

1997

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Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

Nature genetics, 1995-12, Vol.11 (4), p.468-471

1995

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Mutation Spectrum of the Rhodopsin Gene Among Patients with Autosomal Dominant Retinitis Pigmentosa

Proceedings of the National Academy of Sciences - PNAS, 1991-10, Vol.88 (20), p.9370-9374

1991

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Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa

Investigative ophthalmology & visual science, 2000-09, Vol.41 (10), p.3124-3127

2000

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Mutations in the Gene Encoding the α Subunit of the Rod cGMP-Gated Channel in Autosomal Recessive Retinitis Pigmentosa

Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (22), p.10177-10181

1995

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In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector

Investigative ophthalmology & visual science, 1994-04, Vol.35 (5), p.2543-2549

1994

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Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 (RP1)

Investigative ophthalmology & visual science, 2001-09, Vol.42 (10), p.2217-2224

2001

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Lack of scientific rationale for use of valproic acid for retinitis pigmentosa

British journal of ophthalmology, 2011-05, Vol.95 (5), p.744-744

2011

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Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele

American journal of human genetics, 1997-11, Vol.61 (5), p.1059-1066

1997

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Nature (London), 1990-01, Vol.343 (6256), p.364-366

1990

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

Retinitis pigmentosa : the Friedenwald lecture

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

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

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

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

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

X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

Mutation Spectrum of the Gene Encoding the β Subunit of Rod Phosphodiesterase Among Patients with Autosomal Recessive Retinitis Pigmentosa

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

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde- binding protein in a form of retinitis punctata albescens

Retinitis Pigmentosa: Unfolding Its Mystery

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Frequency of mutations in the gene encoding the α subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa

Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

Mutation Spectrum of the Rhodopsin Gene Among Patients with Autosomal Dominant Retinitis Pigmentosa

Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa

Mutations in the Gene Encoding the α Subunit of the Rod cGMP-Gated Channel in Autosomal Recessive Retinitis Pigmentosa

In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector

Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 (RP1)

Lack of scientific rationale for use of valproic acid for retinitis pigmentosa

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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