Peripherin and the vision thing

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

1993 • 546 citations

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1991 • 460 citations

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

1993 • 427 citations

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1991 • 381 citations

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

1991 • 313 citations

Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

1993 • 272 citations

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

1989 • 248 citations

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

1992 • 239 citations

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1993 • 204 citations

North Carolina macular dystrophy is assigned to chromosome 6

1992 • 173 citations

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

1992 • 79 citations

Retinal genetics: a nullifying effect for rhodopsin

1992 • 41 citations