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Molecular genetics of retinitis pigmentosa

Human molecular genetics, 1995-01, Vol.4 (suppl_1), p.1739-1743

1995

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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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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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Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Nature genetics, 1996-07, Vol.13 (3), p.358-360

1996

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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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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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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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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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Intraocular-central nervous system lymphoma: Clinical features, diagnosis, and outcomes

Ophthalmology (Rochester, Minn.), 1999-09, Vol.106 (9), p.1805-1810

1999

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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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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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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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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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Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling

American journal of human genetics, 1998-03, Vol.62 (3), p.610-619

1998

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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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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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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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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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Frequent Inactivation of the Retinoblastoma Anti-Oncogene is Restricted to a Subset of Human Tumor Cells

Proceedings of the National Academy of Sciences - PNAS, 1990-04, Vol.87 (7), p.2775-2779

1990

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Molecular genetics of retinitis pigmentosa

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

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

Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

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

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

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

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

Intraocular-central nervous system lymphoma: Clinical features, diagnosis, and outcomes

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

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

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

Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling

Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa

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

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

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

Frequent Inactivation of the Retinoblastoma Anti-Oncogene is Restricted to a Subset of Human Tumor Cells

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