Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

PubWeight™: 0.93‹?›

🔗 View Article (PMID 9097965)

Published in Hum Mol Genet on April 01, 1997

Authors

R E Kelsell1, K Evans, C Y Gregory, A T Moore, A C Bird, D M Hunt

Author Affiliations

1: Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK.

Articles by these authors

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol (1995) 10.05

Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71

The genetics of childhood cataract. J Med Genet (2000) 3.99

Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol (1995) 3.62

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32

X-linked retinitis pigmentosa. Br J Ophthalmol (1975) 3.11

Tears of detached retinal pigment epithelium. Br J Ophthalmol (1981) 3.08

Spina bifida and anencephalus in greater London. J Med Genet (1973) 3.08

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell (2001) 3.07

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet (2000) 3.00

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97

Visual pigments and oil droplets from six classes of photoreceptor in the retinas of birds. Vision Res (1997) 2.87

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet (2000) 2.82

Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol (2006) 2.67

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature (1984) 2.52

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48

Children of adult survivors with spina bifida cystica. Lancet (1973) 2.46

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet (2003) 2.45

Primary defect in copper transport underlies mottled mutants in the mouse. Nature (1974) 2.37

The effect of chemical treatments of albumin and orosomucoid on rate of clearance from the rat bloodstream and rate of pinocytic capture of rat yolk sac cultured in vitro. Biochem J (1977) 2.36

Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry (1969) 2.35

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med (1981) 2.35

Fundus autofluorescence in age-related macular disease imaged with a laser scanning ophthalmoscope. Invest Ophthalmol Vis Sci (1997) 2.31

The development of neovascularization of senile disciform macular degeneration. Am J Ophthalmol (1973) 2.17

Recent advances in the treatment of senile disciform macular degeneration by photocoagulation. Br J Ophthalmol (1974) 2.14

Isolation of a cDNA clone coding for a possible neural nicotinic acetylcholine receptor alpha-subunit. Nature (1986) 2.13

X linked retinoschisis. Br J Ophthalmol (1995) 2.13

In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol (1997) 2.10

Bilateral acute retinal necrosis. Br J Ophthalmol (1978) 2.07

Senile disciform macular degeneration in the second eye. Br J Ophthalmol (1977) 2.07

Pamidronate therapy as prevention of bone loss following renal transplantation. Kidney Int (2000) 2.06

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet (2001) 2.05

Impact of an early weighing policy on neonatal hypernatraemic dehydration and breast feeding. Arch Dis Child (2007) 2.05

Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol (2001) 2.04

Cloning vectors for the production of proteins in Dictyostelium discoideum. Gene (1995) 2.02

Aging changes in Bruch's membrane. A histochemical and morphologic study. Ophthalmology (1990) 1.99

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol (1998) 1.93

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet (1994) 1.91

Treatment of chronic macular edema with acetazolamide. Arch Ophthalmol (1988) 1.90

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet (1991) 1.88

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol (1985) 1.87

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet (1998) 1.84

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet (1998) 1.81

Isolation of a clone coding for the alpha-subunit of a mouse acetylcholine receptor. J Neurosci (1985) 1.80

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet (1992) 1.80

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet (1999) 1.79

A family study of renal agenesis. J Med Genet (1979) 1.77

A clinical study of the vascularity of senile disciform macular degeneration. Am J Ophthalmol (1973) 1.77

A randomised controlled study of close monitoring of vulnerable psychiatric patients. Lancet (1995) 1.76

The cone dysfunction syndromes. Br J Ophthalmol (2004) 1.76

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet (1996) 1.76

The effect of a hospitalist service with nurse discharge planner on patient care in an academic teaching hospital. Am J Med (2001) 1.75

Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (1989) 1.75

Retinal pigment epithelial detachments in the elderly: classification and outcome. Br J Ophthalmol (1985) 1.74

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol (2006) 1.74

Quorum-sensing and siderophore biosynthesis in Pseudomonas aeruginosa: lasR/lasI mutants exhibit reduced pyoverdine biosynthesis. FEMS Microbiol Lett (1998) 1.74

Pigment epithelial detachment in the elderly. Clinical differentiation, natural course and pathogenetic implications. Graefes Arch Clin Exp Ophthalmol (2002) 1.74

Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol (1996) 1.73

Meniscal movement. An in-vivo study using dynamic MRI. J Bone Joint Surg Br (1999) 1.71

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet (1994) 1.71

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70

Acute zonal occult outer retinopathy: towards a set of diagnostic criteria. Br J Ophthalmol (2005) 1.70

Functional loss in age-related Bruch's membrane change with choroidal perfusion defect. Invest Ophthalmol Vis Sci (1992) 1.69

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet (2006) 1.68

Gene transfer into the mouse retina mediated by an adeno-associated viral vector. Hum Mol Genet (1996) 1.67

Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy. Br J Ophthalmol (1991) 1.67

Choroidal perfusion abnormality with age-related Bruch's membrane change. Am J Ophthalmol (1990) 1.66

Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain (1987) 1.66

Two routes for 99mTc-DMSA uptake into the renal cortical tubular cell. Eur J Nucl Med (1988) 1.66

Drusen as risk factors in age-related macular disease. Am J Ophthalmol (1990) 1.66

Autosomal dominant exudative vitreoretinopathy. Br J Ophthalmol (1980) 1.65

Retinal macroaneurysms. Br J Ophthalmol (1975) 1.64

Cloning, sequencing and analysis of the enterocin biosynthesis gene cluster from the marine isolate 'Streptomyces maritimus': evidence for the derailment of an aromatic polyketide synthase. Chem Biol (2000) 1.64

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol (1999) 1.64

Surgical clips in planning the electron boost in breast cancer: a qualitative and quantitative evaluation. Int J Radiat Oncol Biol Phys (1996) 1.64

Retinopathy in haemoglobin C trait. Eye (Lond) (1996) 1.63

The role of axoplasmic transport in the pathogenesis of retinal cotton-wool spots. Br J Ophthalmol (1977) 1.62

A three generation family study of cleft lip with or without cleft palate. J Med Genet (1982) 1.62

Location of the transcription defect in group I temperature-sensitive mutants of vesicular stomatitis virus. J Virol (1974) 1.58

Relationship between melatonin rhythms and visual loss in the blind. J Clin Endocrinol Metab (1997) 1.58

A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet (1997) 1.57

Vitamin A treatment for night blindness in primary biliary cirrhosis. Br Med J (Clin Res Ed) (1984) 1.57

Analysis of lipid deposits extracted from human macular and peripheral Bruch's membrane. Arch Ophthalmol (1994) 1.55

Lens biology: development and human cataractogenesis. Trends Genet (1999) 1.55

Retinal venous sheathing in optic neuritis. Its significance for the pathogenesis of multiple sclerosis. Brain (1987) 1.54

Senile disciform macular degeneration: features indicating suitability for photocoagulation. Br J Ophthalmol (1979) 1.54

Randomized placebo-controlled trial of brisk walking in the prevention of postmenopausal osteoporosis. Age Ageing (1997) 1.52

Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change. Br J Ophthalmol (1993) 1.51

A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet (1996) 1.51