Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

PubWeight™: 0.79‹?›

🔗 View Article (PMC 1771000)

Published in Br J Ophthalmol on February 01, 2002

Authors

C J Cobb1, G Scott, R J Swingler, S Wilson, J Ellis, C J MacEwen, W H I McLean

Author Affiliations

1: Department of Ophthalmology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.

Articles cited by this

Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14

A perfect message: RNA surveillance and nonsense-mediated decay. Cell (1999) 7.08

Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet (1999) 6.90

The epidemiology of open-angle glaucoma: a review. Am J Epidemiol (1983) 4.01

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18

Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet (1993) 3.12

Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol (1998) 1.98

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. Genet Test (1999) 1.57

Family history in primary open-angle glaucoma. Arch Ophthalmol (1977) 1.24

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res (2000) 1.10

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet (1997) 1.08

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet (1997) 1.06

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. Am J Hum Genet (1999) 0.97

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch Ophthalmol (2000) 0.90

Genetic screening in a large family with juvenile onset primary open angle glaucoma. Br J Ophthalmol (2000) 0.78

Articles by these authors

(truncated to the top 100)

A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A (1995) 32.89

Reduction of maternal-infant transmission of human immunodeficiency virus type 1 with zidovudine treatment. Pediatric AIDS Clinical Trials Group Protocol 076 Study Group. N Engl J Med (1994) 25.02

Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell (1998) 12.66

Natural history of cervical human papillomavirus infection in young women: a longitudinal cohort study. Lancet (2001) 7.31

Activation of macrophages in vivo and in vitro. Correlation between hydrogen peroxide release and killing of Trypanosoma cruzi. J Exp Med (1979) 5.22

Purification and properties of Drosophila heat shock activator protein. Science (1987) 4.60

Molecular cloning and expression of a hexameric Drosophila heat shock factor subject to negative regulation. Cell (1990) 4.40

Vibrio parahaemolyticus infections in the United States, 1973-1998. J Infect Dis (2000) 4.35

Proteins as molecular chaperones. Nature (1987) 4.26

Diffuse axonal injury due to nonmissile head injury in humans: an analysis of 45 cases. Ann Neurol (1982) 3.82

Natural History of Chronic Pyelonephritic Scarring. Br Med J (1965) 3.78

Atypical beta-adrenoceptor on brown adipocytes as target for anti-obesity drugs. Nature (1984) 3.64

The effect of a separate stream for minor injuries on accident and emergency department waiting times. Emerg Med J (2002) 3.58

Research needs for the risk assessment of health and environmental effects of endocrine disruptors: a report of the U.S. EPA-sponsored workshop. Environ Health Perspect (1996) 3.34

AXOR12, a novel human G protein-coupled receptor, activated by the peptide KiSS-1. J Biol Chem (2001) 3.32

Three-year incidence of AIDS in five cohorts of HTLV-III-infected risk group members. Science (1986) 3.31

Correction of sickle cell disease in transgenic mouse models by gene therapy. Science (2001) 3.25

Human urotensin-II is a potent vasoconstrictor and agonist for the orphan receptor GPR14. Nature (1999) 3.20

T-cell receptor variable gene products and early HIV-1 infection. Lancet (1992) 3.20

Incidence of cases of ocular trauma admitted to hospital and incidence of blinding outcome. Br J Ophthalmol (1996) 3.18

Monoclonal antibodies against protease-sensitive pneumococcal antigens can protect mice from fatal infection with Streptococcus pneumoniae. J Exp Med (1984) 3.02

Patient pathways for macular disease: what will the new optometrist with special interest achieve? Eye (Lond) (2006) 2.93

Ambulatory visits to hospital emergency departments. Patterns and reasons for use. 24 Hours in the ED Study Group. JAMA (1996) 2.89

Regulation of acetylcholinesterase in neuroblastoma cells. Proc Natl Acad Sci U S A (1970) 2.89

The distribution of multiple sclerosis in the United Kingdom. J Neurol Neurosurg Psychiatry (1986) 2.82

Lack of long-term effects of in utero exposure to zidovudine among uninfected children born to HIV-infected women. Pediatric AIDS Clinical Trials Group Protocol 219/076 Teams. JAMA (1999) 2.79

Sick building syndrome: a study of 4373 office workers. Ann Occup Hyg (1987) 2.78

Prevalence of psychiatric disorders in young people in the care system. BMJ (1996) 2.67

Population based cost utility study of interferon beta-1b in secondary progressive multiple sclerosis. BMJ (1999) 2.66

Laboratory diagnostic techniques for Entamoeba species. Clin Microbiol Rev (2007) 2.65

Paediatric hand fractures. J Hand Surg Eur Vol (2013) 2.65

Detachment characteristics and oxacillin resistance of Staphyloccocus aureus biofilm emboli in an in vitro catheter infection model. J Bacteriol (2004) 2.60

Post-intravitreal anti-VEGF endophthalmitis in the United Kingdom: incidence, features, risk factors, and outcomes. Eye (Lond) (2012) 2.52

A habitable fluvio-lacustrine environment at Yellowknife Bay, Gale crater, Mars. Science (2013) 2.50

Pandemic Influenza A (H1N1) 2009 and mortality in the United Kingdom: risk factors for death, April 2009 to March 2010. Euro Surveill (2010) 2.49

The Dentin matrix protein 1 (Dmp1) is specifically expressed in mineralized, but not soft, tissues during development. J Dent Res (2003) 2.48

DNA cloning of Plasmodium falciparum circumsporozoite gene: amino acid sequence of repetitive epitope. Science (1984) 2.47

The role of Gulf Coast oysters harvested in warmer months in Vibrio vulnificus infections in the United States, 1988-1996. Vibrio Working Group. J Infect Dis (1998) 2.46

Worry about ovarian cancer risk and use of ovarian cancer screening by women at risk for ovarian cancer. Gynecol Oncol (2002) 2.41

Medical evacuation from Mostar. Lancet (1996) 2.37

European survey of primary care physician perceptions on heart failure diagnosis and management (Euro-HF). Eur Heart J (2000) 2.34

How evidence based are recruitment strategies to randomized controlled trials in primary care? Experience from seven studies. Fam Pract (2003) 2.34

A randomized controlled trial of implant-retained mandibular overdentures. J Dent Res (2006) 2.31

Staining of amyloid precursor protein to study axonal damage in mild head injury. Lancet (1994) 2.27

Review of the usefulness of contacting other experts when conducting a literature search for systematic reviews. BMJ (1998) 2.25

Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry (2008) 2.24

A review of near patient testing in primary care. Health Technol Assess (1997) 2.22

Polymerase chain reaction for assessing treatment response in patients with pulmonary tuberculosis. J Infect Dis (1994) 2.21

Comparison of physical chemical properties of llama VHH antibody fragments and mouse monoclonal antibodies. Biochim Biophys Acta (1999) 2.20

Detection of influenza A(H3N2) virus in children with suspected mumps during winter 2014/15 in England. Euro Surveill (2015) 2.19

The pharmacogenetics of chemical carcinogenesis. Pharmacogenetics (1992) 2.12

Prophylaxis with a nevirapine-containing triple regimen after exposure to HIV-1. Lancet (2001) 2.10

Outbreak of low pathogenicity H7N3 avian influenza in UK, including associated case of human conjunctivitis. Euro Surveill (2006) 2.08

Growth and detachment of cell clusters from mature mixed-species biofilms. Appl Environ Microbiol (2001) 2.08

Biofilm material properties as related to shear-induced deformation and detachment phenomena. J Ind Microbiol Biotechnol (2002) 2.07

Environmental health and genomics: visions and implications. Nat Rev Genet (2000) 2.05

Should the cement mantle around the femoral component be thick or thin? J Bone Joint Surg Br (2003) 2.05

New regulations hurting radiology. CMAJ (1994) 2.04

In vivo detection of applied electric currents by magnetic resonance imaging. Magn Reson Imaging (1989) 2.04

PCV-2 genotype definition and nomenclature. Vet Rec (2008) 2.04

The Todd commission's assumptions and proposals. Proc R Soc Med (1975) 2.03

Health risks from increased movement of companion animals in Europe. Vet Rec (1998) 2.03

Case for active physician involvement in US practice. Radiology (1996) 2.02

Effect of nitric oxide, perfluorocarbon, and heliox on minute volume measurement and ventilator volumes delivered. Crit Care Med (1999) 2.01

Molecular characterization of the maize Rp1-D rust resistance haplotype and its mutants. Plant Cell (1999) 2.01

Fetal effects of combined spinal-epidural vs epidural labour analgesia: a prospective, randomised double-blind study. Anaesthesia (2014) 1.99

Can ultrasound probes and coupling gel be a source of nosocomial infection in patients undergoing sonography? An in vivo and in vitro study. AJR Am J Roentgenol (1995) 1.97

Cloning of a human liver microsomal UDP-glucuronosyltransferase cDNA. Biochem J (1987) 1.97

A G protein-coupled receptor for UDP-glucose. J Biol Chem (2000) 1.91

Differential maturation of avidity of IgG antibodies to gp41, p24 and p17 following infection with HIV-1. Clin Exp Immunol (1996) 1.90

Cloning and expression in E. coli of the malarial sporozoite surface antigen gene from Plasmodium knowlesi. Nature (1983) 1.90

Identification and chemical synthesis of a tandemly repeated immunogenic region of Plasmodium knowlesi circumsporozoite protein. Nature (1983) 1.90

Synaptic reorganization in the hippocampus induced by abnormal functional activity. Science (1988) 1.89

The rat lipolytic beta-adrenoceptor: studies using novel beta-adrenoceptor agonists. Eur J Pharmacol (1984) 1.85

A randomized controlled trial of the effect of thyroxine replacement on cognitive function in community-living elderly subjects with subclinical hypothyroidism: the Birmingham Elderly Thyroid study. J Clin Endocrinol Metab (2010) 1.84

Effectiveness of seasonal 2010/11 and pandemic influenza A(H1N1)2009 vaccines in preventing influenza infection in the United Kingdom: mid-season analysis 2010/11. Euro Surveill (2011) 1.84

Instability of the L6 gene for rust resistance in flax is correlated with the presence of a linked Ac element. Plant J (1993) 1.83

Cost effectiveness of initial endoscopy for dyspepsia in patients over age 50 years: a randomised controlled trial in primary care. Lancet (2000) 1.83

The 2000 canine distemper epidemic in Caspian seals (Phoca caspica): pathology and analysis of contributory factors. Vet Pathol (2006) 1.82

Emotional and physical health problems of battered women. Can J Psychiatry (1986) 1.82

Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age. Br J Dermatol (2010) 1.81

Alveolar tissue inflammation in asthma. Am J Respir Crit Care Med (1996) 1.81

Clinical and laboratory features of 78 cases of T-prolymphocytic leukemia. Blood (1991) 1.79

Inflammatory cells in the airways in COPD. Thorax (2006) 1.79

Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet (1989) 1.79

Retrovirus vector silencing is de novo methylase independent and marked by a repressive histone code. EMBO J (2000) 1.78

Self measurement of blood pressure: a community survey. J Hum Hypertens (2007) 1.78

Immunolocalization of cytokines in the nasal mucosa of normal and perennial rhinitic subjects. The mast cell as a source of IL-4, IL-5, and IL-6 in human allergic mucosal inflammation. J Immunol (1993) 1.78

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. Br J Dermatol (2011) 1.77

Topography of axonal injury as defined by amyloid precursor protein and the sector scoring method in mild and severe closed head injury. J Neurotrauma (1995) 1.77

Continued emergence and changing epidemiology of oseltamivir-resistant influenza A(H1N1)2009 virus, United Kingdom, winter 2010/11. Euro Surveill (2011) 1.76

A three-step method of self-reflection using reflective journal writing. J Adv Nurs (1997) 1.76

Pandemic (H1N1) 2009 virus outbreak in a school in London, April-May 2009: an observational study. Epidemiol Infect (2009) 1.76

Acute exposure to diesel exhaust increases IL-8 and GRO-alpha production in healthy human airways. Am J Respir Crit Care Med (2000) 1.75

Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell (1998) 1.75

Range of self-tests available to buy in the United Kingdom: an Internet survey. J Public Health (Oxf) (2006) 1.74

Young age as a prognostic factor in cervical cancer: analysis of population based data from 10,022 cases. Br Med J (Clin Res Ed) (1988) 1.73

The burden of pneumococcal disease among adults in developed and developing countries: what is and is not known. Vaccine (1999) 1.73

Experimental infection of colostrum deprived piglets with porcine circovirus 2 (PCV2) and porcine reproductive and respiratory syndrome virus (PRRSV) potentiates PCV2 replication. Arch Virol (2000) 1.71

Isolation and characterization of the Schizosaccharomyces pombe rhp9 gene: a gene required for the DNA damage checkpoint but not the replication checkpoint. Nucleic Acids Res (1997) 1.71