Published in J Med Genet on September 01, 2001
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci (2008) 1.21
Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Invest Ophthalmol Vis Sci (2011) 1.15
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion. Mol Cell Biochem (2009) 1.10
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One (2016) 1.07
Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mamm Genome (2011) 1.04
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol Vis (2011) 0.92
[Genetic causes of hereditary cone and cone-rod dystrophies]. Ophthalmologe (2009) 0.87
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. Invest Ophthalmol Vis Sci (2014) 0.86
GCAP1 mutations associated with autosomal dominant cone dystrophy. Adv Exp Med Biol (2010) 0.84
Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis. Eur J Hum Genet (2012) 0.82
Inhibition of the Pim1 oncogene results in diminished visual function. PLoS One (2012) 0.82
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. Mol Vis (2013) 0.82
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. Doc Ophthalmol (2013) 0.80
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. J Biol Chem (2016) 0.79
Graft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interaction. Proc Natl Acad Sci U S A (2016) 0.75
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. Eye (Lond) (2014) 0.75
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. Mol Vis (2017) 0.75
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. Doc Ophthalmol (2015) 0.75
Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. Sci Rep (2017) 0.75
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
A polypeptide from tomato leaves induces wound-inducible proteinase inhibitor proteins. Science (1991) 9.18
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet (2000) 7.20
Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry (2007) 5.49
Single-chain antigen-binding proteins. Science (1988) 5.29
Sequence and analysis of chromosome 4 of the plant Arabidopsis thaliana. Nature (1999) 5.03
Contribution of novel choline-binding proteins to adherence, colonization and immunogenicity of Streptococcus pneumoniae. Mol Microbiol (1997) 4.78
Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71
Clostridium difficile-associated diarrhea and colitis. Infect Control Hosp Epidemiol (1995) 4.39
A phase I evaluation of the safety and immunogenicity of vaccination with recombinant gp160 in patients with early human immunodeficiency virus infection. Military Medical Consortium for Applied Retroviral Research. N Engl J Med (1991) 4.23
The genetics of childhood cataract. J Med Genet (2000) 3.99
A membrane-associated form of sucrose synthase and its potential role in synthesis of cellulose and callose in plants. Proc Natl Acad Sci U S A (1995) 3.98
Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol (1995) 3.62
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42
Acquisition of Clostridium difficile by hospitalized patients: evidence for colonized new admissions as a source of infection. J Infect Dis (1992) 3.37
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
Primary symptomless colonisation by Clostridium difficile and decreased risk of subsequent diarrhoea. Lancet (1998) 3.29
Immune interferon release when a cloned cytotoxic T-cell line meets its correct influenza-infected target cell. Nature (1982) 3.17
X-linked retinitis pigmentosa. Br J Ophthalmol (1975) 3.11
Tears of detached retinal pigment epithelium. Br J Ophthalmol (1981) 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
Integration between primary and secondary services in the care of the severely mentally ill: patients' and general practitioners' views. Br J Psychiatry (1997) 3.02
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet (2000) 3.00
Rationale and design. PRiSM Psychosis Study I. Br J Psychiatry (1998) 2.98
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97
Development of a rapid and efficient restriction endonuclease analysis typing system for Clostridium difficile and correlation with other typing systems. J Clin Microbiol (1993) 2.94
Community-acquired methicillin-resistant Staphylococcus aureus in a rural American Indian community. JAMA (2001) 2.93
Visual pigments and oil droplets from six classes of photoreceptor in the retinas of birds. Vision Res (1997) 2.87
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet (2000) 2.85
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet (2000) 2.82
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Rheumatic fever and chronic rheumatic heart disease in Yarrabah aboriginal community, north Queensland. Establishment of a prophylactic program. Med J Aust (1993) 2.70
Use of a whole genome approach to identify vaccine molecules affording protection against Streptococcus pneumoniae infection. Infect Immun (2001) 2.68
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
Block-iterative frequency-domain methods for Maxwell's equations in a planewave basis. Opt Express (2001) 2.63
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
Evaluation of two treatment regimens of pralidoxime (1 gm single bolus dose vs 12 gm infusion) in the management of organophosphorus poisoning. J Assoc Physicians India (1996) 2.46
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet (2003) 2.45
Evaluating the UMLS as a source of lexical knowledge for medical language processing. Proc AMIA Symp (2001) 2.41
Macrolide resistance among invasive Streptococcus pneumoniae isolates. JAMA (2001) 2.40
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
Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med (1981) 2.35
Safety in anaesthesia: a study of 12,606 reported incidents from the UK National Reporting and Learning System. Anaesthesia (2008) 2.34
Quinupristin-dalfopristin-resistant Enterococcus faecium on chicken and in human stool specimens. N Engl J Med (2001) 2.32
An open randomised trial of second-line endocrine therapy in advanced breast cancer. comparison of the aromatase inhibitors letrozole and anastrozole. Eur J Cancer (2003) 2.31
Fundus autofluorescence in age-related macular disease imaged with a laser scanning ophthalmoscope. Invest Ophthalmol Vis Sci (1997) 2.31
Overview: deinstitutionalization of psychiatric patients, a critical review of outcome studies. Am J Psychiatry (1981) 2.24
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet (2001) 2.19
The development of neovascularization of senile disciform macular degeneration. Am J Ophthalmol (1973) 2.17
Sequence and analysis of chromosome 5 of the plant Arabidopsis thaliana. Nature (2000) 2.16
Recent advances in the treatment of senile disciform macular degeneration by photocoagulation. Br J Ophthalmol (1974) 2.14
X linked retinoschisis. Br J Ophthalmol (1995) 2.13
In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol (1997) 2.10
Drug and alcohol problems among individuals with severe mental illness in south London. Br J Psychiatry (1996) 2.09
Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab (2000) 2.07
Senile disciform macular degeneration in the second eye. Br J Ophthalmol (1977) 2.07
Bilateral acute retinal necrosis. Br J Ophthalmol (1978) 2.07
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet (2001) 2.05
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol (2001) 2.04
Down's syndrome screening in the UK. Lancet (1996) 2.02
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
Identification and characterization of a novel family of pneumococcal proteins that are protective against sepsis. Infect Immun (2001) 1.97
The impact of Gelrite and activated carbon on the elemental composition of two conifer embryogenic tissue initiation media. Plant Cell Rep (2003) 1.96
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol (1998) 1.93
Femtosecond XANES study of the light-induced spin crossover dynamics in an iron(II) complex. Science (2008) 1.92
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
Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations. J Clin Invest (1980) 1.90
Phylogeny and radiation of pollination systems in DISA (Orchidaceae). Am J Bot (1998) 1.88
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
Data elements for emergency department systems, release 1.0 (DEEDS): a summary report. DEEDS Writing Committee. Ann Emerg Med (1998) 1.86
The Revised Helping Alliance Questionnaire (HAq-II) : Psychometric Properties. J Psychother Pract Res (1996) 1.86
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
The com locus controls genetic transformation in Streptococcus pneumoniae. Mol Microbiol (1997) 1.80