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A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa

Ophthalmology (Rochester, Minn.), 2000-02, Vol.107 (2), p.386-396

2000

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Visual Acuity Impairment in Patients with Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 1996-10, Vol.103 (10), p.1593-1600

1996

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X-linked retinitis pigmentosa. Profile of clinical findings

Archives of ophthalmology (1960), 1988-03, Vol.106 (3), p.369

1988

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X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

Archives of ophthalmology (1960), 1986-09, Vol.104 (9), p.1329

1986

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Retinitis pigmentosa. Visual loss

Archives of ophthalmology (1960), 1978-07, Vol.96 (7), p.1185

Fishman, G A

1978

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Autosomal dominantly inherited retinitis pigmentosa. Visual acuity loss by subtype

Archives of ophthalmology (1960), 1985-04, Vol.103 (4), p.524

1985

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Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

British journal of ophthalmology, 1999-10, Vol.83 (10), p.1144-1148

1999

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Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q

British journal of ophthalmology, 1995-09, Vol.79 (9), p.841-846

1995

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Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records

Journal of medical genetics, 1992-12, Vol.29 (12), p.906-910

1992

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Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

British journal of ophthalmology, 1993-08, Vol.77 (8), p.473-479

1993

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Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

British journal of ophthalmology, 1995-01, Vol.79 (1), p.23-27

1995

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Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site

British journal of ophthalmology, 1994-05, Vol.78 (5), p.353-358

1994

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DNA probes in X-linked retinitis pigmentosa

Transactions of the ophthalmological societies of the United Kingdom, 1983, Vol.103 ( Pt 4), p.467

1983

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Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa

Experimental eye research, 2013-08, Vol.113, p.41-48

2013

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Journal of medical genetics, 2006-04, Vol.43 (4), p.326-333

2006

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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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A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1150-1158

2007

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Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

Eye (London), 2010-05, Vol.24 (5), p.764-774

2010

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Detailed comparison of phenotype between male patients carrying variants in exons 1–14 and ORF15 of RPGR

Experimental eye research, 2020-09, Vol.198, p.108147-108147, Article 108147

2020

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Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

PloS one, 2018-12, Vol.13 (12), p.e0207958-e0207958

2018

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

Human molecular genetics, 1999-08, Vol.8 (8), p.1571-1578

1999

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

Journal of medical genetics, 2003-08, Vol.40 (8), p.609-615

2003

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Quantitative Analysis of Retinal Structure using Spectral Domain Optical Coherence Tomography in RPGR -associated Retinopathy

American journal of ophthalmology, 2017-06, Vol.178, p.18-26

2017

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PloS one, 2017-01, Vol.12 (1), p.e0170038-e0170038

2017

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Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

Ophthalmology (Rochester, Minn.), 2018-05, Vol.125 (5), p.725-734

2018

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A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa

Visual Acuity Impairment in Patients with Retinitis Pigmentosa

X-linked retinitis pigmentosa. Profile of clinical findings

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

Retinitis pigmentosa. Visual loss

Autosomal dominantly inherited retinitis pigmentosa. Visual acuity loss by subtype

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site

DNA probes in X-linked retinitis pigmentosa

Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

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

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

Detailed comparison of phenotype between male patients carrying variants in exons 1–14 and ORF15 of RPGR

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

Quantitative Analysis of Retinal Structure using Spectral Domain Optical Coherence Tomography in RPGR -associated Retinopathy

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

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