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

No abstract is available for this paper.

• Publication year

  1993

• Venue

  British Journal of Ophthalmology

• Publication date

  1993-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/bjo.77.8.473PMID 8025041PMCID PMC504578
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

  1993cited by this paper
• A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

  1993cited by this paper
• Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.

  1992cited by this paper
• A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

  1992cited by this paper
• Anticipation in myotonic dystrophy: new light on an old problem.

  1992cited by this paper
• Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

  1992cited by this paper
• Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

  1992cited by this paper
• Phenotypic heterogeneity and the single gene.

  1992cited by this paper
• Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

  1991cited by this paper
• A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

  1991cited by this paper
• Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

  1991cited by this paper
• Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.

  1991cited by this paper
• Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus.

  1991cited by this paper
• The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.

  1991cited by this paper
• Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

  1991cited by this paper
• Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

  1991cited by this paper
• Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

  1991cited by this paper
• Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

  1991cited by this paper
• Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.

  1991cited by this paper
• Genomic imprinting in mammalian development: a parental tug-of-war.

  1991cited by this paper
• A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

  1990cited by this paper
• Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

  1989cited by this paper
• Two types of visual dysfunction in autosomal dominant retinitis pigmentosa.

  1988cited by this paper
• Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa.

  1986cited by this paper
• A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa.

  1985cited by this paper
• Autosomal dominant retinitis pigmentosa. A method of classification.

  1985cited by this paper
• Photopic flicker sensitivity losses in simplex and multiplex retinitis pigmentosa.

  1984cited by this paper
• Strategies for multilocus linkage analysis in humans.

  1984cited by this paper
• An automated statis perimeter/adaptometer using light emitting diodes.

  1983cited by this paper
• A modified ERG technique and the results obtained in X-linked retinitis pigmentosa.

  1983cited by this paper
• Two forms of autosomal dominant primary retinitis pigmentosa

  1981cited by this paper
• Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram.

  1979cited by this paper
• Dominant retinitis pigmentosa with reduced penetrance.

  1969cited by this paper

• RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

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  2023cites this paper
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  2022cites this paper
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  2021cites this paper
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  2020cites this paper
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• Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

  2018cites this paper
• A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance

  2018cites this paper
• The phenotypic variability of HK1-associated retinal dystrophy

  2017cites this paper
• Chapter 40 – Retinitis Pigmentosa and Allied Disorders

  2013cites this paper
• Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

  2013cites this paper
• CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

  2012influential citation
• PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

  2011cites this paper
• Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

  2009cites this paper
• A mutation screen of NR2E1 in patients with aniridia, Peters' anomaly and related eye disorders

  2009cites this paper
• Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

  2009cites this paper
• Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31

  2008cites this paper
• Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

  2008cites this paper
• Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

  2008cites this paper
• Two transacting eQTLs modulate the penetrance of PRPF 31 mutations

  2008cites this paper
• Mutation c. 1142 del G in the PRPF31 Gene in a Family with Autosomal Dominant Retinitis Pigmentosa (RP11) and Its Implications

  2007cites this paper
• Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

  2007cites this paper
• Pre-mRNA splicing and retinitis pigmentosa.

  2006cites this paper
• Chapter 17 – Retinitis Pigmentosa and Allied Disorders

  2006cites this paper
• Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

  2006cites this paper
• Chapter 16 – Molecular Genetics of Retinal Disease

  2006cites this paper
• Genetic features of retinitis pigmentosa in Turkey

  2005cites this paper
• [Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations].

  2005cites this paper
• Génétique des rétinites pigmentaires : classification métabolique et corrélations phénotype/génotype

  2005cites this paper
• Mutations in PRPF31 Inhibit Pre-mRNA Splicing of Rhodopsin Gene and Cause Apoptosis of Retinal Cells

  2005influential citation
• dazed gene is necessary for late cell type development and retinal cell maintenance in the zebrafish retina

  2005cites this paper
• Quantification of dark adaptation dynamics in retinitis pigmentosa using non‐linear regression analysis

  2004cites this paper
• Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

  2003cites this paper
• Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations.

  2003cites this paper
• Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

  2002cites this paper
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  2002cites this paper
• Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

  2002cites this paper
• A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

  2001cites this paper
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  2000cites this paper
• Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country

  1999cites this paper
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  1998cites this paper
• Rétinopathies pigmentaires

  1997cites this paper
• Functional and Imaging Investigations in Patients with Well-Defined Abnormalities of the Visual System

  1997cites this paper
• [Retinitis pigmentosa].

  1997cites this paper
• Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.

  1996cites this paper
• Molecular genetic analysis of human inherited retinal degeneration

  1996cites this paper
• Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

  1996cites this paper
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  1995cites this paper
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  1995cites this paper
• Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Ser 186TRP Mutation of Rhodopsin

  1995cites this paper
• Clinical aspects: outer retinal dystrophies

  1995cites this paper
• Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

  1995cites this paper
• Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

  1995cites this paper
• Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

  1995cites this paper
• Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

  1994cites this paper
• Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.

  1994cites this paper
• Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

  1994cites this paper
• Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.

  1994cites this paper
• The molecular genetics of cone-rod retinal dystrophy

  1994cites this paper