Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

T J Keen, C.F. Inglehearn, Douglas H. Lester, +5

Genomics

New MutationsOcular DiseaseRetinaPhotoreceptor CellOphthalmology +6

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

Chris F. Inglehearn, T J Keen, Rumaisa Bashir, +5

Human Molecular Genetics

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

Anthony T. Moore, F.W. Fitzke, C.M. Kemp, +5

British Journal of Ophthalmology

Ganglion CellOcular DiseaseRod AdaptationPhotoreceptor CellOphthalmology +11

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

T J Keen, Chris F. Inglehearn

Human Mutation

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

T J Keen, Matthew M. Hims, Arthur B. McKie, +9

European Journal of Human Genetics

Pim-1 KinaseProtein FunctionMolecular PhysiologySignal TransductionRp9 Form +8

Macular Dystrophy Associated with Mutations at Codon 172 in the Human Retinal Degeneration Slow Gene

John J. Wroblewski, John A. Wells, Anja Eckstein, +8

Ophthalmology

Ocular DiseaseMendelian DisorderOphthalmologyMacular Dystrophy AssociatedGenetic Disorder +6

A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13

Louise Downey, T J Keen, Emma Roberts, +3

The American Journal of Human Genetics

Ocular DiseaseVitreous BodyOphthalmologyGenetic DisorderGenetics +3

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

Hiroshi Maita, Hirotake Kitaura, T J Keen, +3

Experimental Cell Research

Dominant Retinitis PigmentosaRp9 FormGeneticsGenomic MechanismGene Characterization +7

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

T J Keen, Moin Mohamed, Martin McKibbin, +4

European Journal of Human Genetics

Allelic VariantGenetic DisorderGeneticsPathologyLeber Hereditary Optic Neuropathy +7

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

Anthony T. Moore, F.W. Fitzke, M Jay, +5

British Journal of Ophthalmology

Apparent Incomplete PenetranceOcular DiseaseGeneticsGenetic EpidemiologyRetinal Areas +14