Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation inGnat2

Principles and Practice of Clinical Electrophysiology of Vision

2006 • 679 citations

Identification of Specific Transducin α Subunits in Retinal Rod and Cone Photoreceptors

1986 • 272 citations

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

2002 • 250 citations

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2004 • 230 citations

Genetic basis of total colourblindness among the Pingelapese islanders

2000 • 229 citations

Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior

1999 • 186 citations

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3

2002 • 173 citations

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1992 • 151 citations

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes.

1999 • 139 citations

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

2004 • 127 citations

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

2002 • 121 citations

Hereditary retinal and choroidal diseases

1972 • 108 citations

Night Vision: Basic, Clinical and Applied Aspects

1990 • 94 citations

Progressive Cone Dystrophy Associated with Mutation inCNGB3

2004 • 74 citations

Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa.

2000 • 70 citations

Human Rod Monochromacy: Linkage Analysis and Mapping of a Cone Photoreceptor Expressed Candidate Gene on Chromosome 2q11

1998 • 66 citations

Clinical features of achromatopsia in Swedish patients with defined genotypes

2002 • 42 citations

Interaction Sites of the COOH-terminal Region of the γ Subunit of cGMP Phosphodiesterase with the GTP-bound α Subunit of Transducin

1996 • 34 citations

Total colour blindness: an introduction

1990 • 34 citations

Hereditary disorders among Iranian Jews

1995 • 31 citations

PINGELAP EYE DISEASE

1970 • 4 citations