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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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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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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 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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Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

Molecular vision, 2015-07, Vol.21, p.783-792

2015

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Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients

Experimental eye research, 2019-11, Vol.188, p.107726-107726, Article 107726

2019

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A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

Molecular vision, 2010-08, Vol.16, p.1620-1628

2010

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Retinal Histopathology of an XLRP Carrier with a Mutation in the RPGR Exon ORF15

Experimental eye research, 2002-10, Vol.75 (4), p.431-443

2002

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Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

American journal of ophthalmology, 1995-01, Vol.119 (1), p.65-71

1995

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RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Human mutation, 2012-01, Vol.33 (1), p.73-80

2012

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Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation

Clinical genetics, 1998-07, Vol.54 (1), p.26-32

1998

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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

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

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 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

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

Retinal Histopathology of an XLRP Carrier with a Mutation in the RPGR Exon ORF15

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation

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