Published in Hum Mol Genet on December 01, 1993
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat (2001) 3.07
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc Natl Acad Sci U S A (1996) 1.43
Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc (2003) 1.27
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (2001) 1.19
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet (1997) 1.09
Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues. Invest Ophthalmol Vis Sci (2003) 0.97
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol (1995) 0.95
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol (2006) 0.82
Marrow-derived stromal cells express genes encoding a broad spectrum of arteriogenic cytokines and promote in vitro and in vivo arteriogenesis through paracrine mechanisms. Circ Res (2004) 6.49
Local delivery of marrow-derived stromal cells augments collateral perfusion through paracrine mechanisms. Circulation (2004) 6.43
Catalytic properties and specificity of the extracellular nuclease of Staphylococcus aureus. J Biol Chem (1967) 6.29
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet (1997) 4.87
Clinical problem-solving. Where did good old clinical diagnosis go? N Engl J Med (1997) 3.94
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet (1998) 3.93
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet (2000) 3.71
Campylobacter pyloridis gastritis I: Detection of urease as a marker of bacterial colonization and gastritis. Am J Gastroenterol (1987) 3.65
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet (2001) 3.15
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet (2000) 2.70
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci (2000) 2.67
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci (2000) 2.46
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Antigenicity of some new synthetic polypeptides and polypeptidyl gelatins. Biochem J (1964) 2.40
An improved method for the purification of staphylococcal nuclease. J Biol Chem (1967) 2.27
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Experience-dependent changes in cerebral activation during human REM sleep. Nat Neurosci (2000) 2.18
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet (1999) 2.13
Determinants of brain iron in multiple sclerosis: a quantitative 3T MRI study. Neurology (2011) 2.11
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. Genomics (1989) 2.10
Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae. J Cell Biol (1997) 2.07
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
Criteria for an increased specificity of MRI interpretation in elderly subjects with suspected multiple sclerosis. Neurology (1988) 2.03
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet (2000) 2.02
The binding site of acetylcholine receptor as visualized in the X-Ray structure of a complex between alpha-bungarotoxin and a mimotope peptide. Neuron (2001) 1.96
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet (1995) 1.90
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology (2004) 1.83
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet (2001) 1.81
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet (2004) 1.79
Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med (2001) 1.77
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics (1999) 1.70
Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer. Int J Cancer (2000) 1.70
Immunological assay for plant hormones using specific antibodies to indoleacetic acid and gibberellic acid. Biochim Biophys Acta (1969) 1.68
Immunological studies of plant hormones. Detection and estimation by immunological assays. Eur J Biochem (1971) 1.68
Humoral antibodies to acetylcholine receptor in patients with myasthenia gravis. Lancet (1975) 1.66
Resources, attractiveness, family commitment; reproductive decisions in human mate choice. Ethology (1997) 1.65
Faddeev calculation of a K- pp quasibound state. Phys Rev Lett (2007) 1.64
Angiogenesis therapy: amidst the hype, the neglected potential for serious side effects. Circulation (2001) 1.64
Functional hierarchy between two OSE2 elements in the control of osteocalcin gene expression in vivo. J Biol Chem (1998) 1.63
Dissociation between bone resorption and bone formation in osteopenic transgenic mice. Proc Natl Acad Sci U S A (1998) 1.63
Distribution of extracellular matrices, matrix receptors, and transforming growth factor-beta 1 in human and experimental lung granulomatous inflammation. Am J Med Sci (1995) 1.62
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet (2000) 1.61
Cellular immune response to acetylcholine receptor-rich fraction, in patients with myasthenia gravis. Clin Exp Immunol (1975) 1.59
In vitro proliferative responses and antibody titers specific to human acetylcholine receptor synthetic peptides in patients with myasthenia gravis and relation to HLA class II genes. J Clin Invest (1988) 1.57
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis (2001) 1.56
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat (1995) 1.54
The renal effect of low-dose dopamine in high-risk patients undergoing coronary angiography. J Am Coll Cardiol (1999) 1.53
A novel technique for selective NF-kappaB inhibition in Kupffer cells: contrary effects in fulminant hepatitis and ischaemia-reperfusion. Gut (2009) 1.49
A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc Natl Acad Sci U S A (1996) 1.48
Fatal hepatic failure associated with ciprofloxacin. Lancet (1994) 1.47
Cytokine production by synovial T cells in rheumatoid arthritis. Rheumatology (Oxford) (1999) 1.45
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 1.45
[Colony defence of Asian honey bees]. Z Tierpsychol (1975) 1.44
Preparation and characterization of poly-DL-alanyl rabbit gamma-globulin. J Biol Chem (1965) 1.44
Catheter-based electromechanical mapping to assess regional myocardial function: a comparative analysis with transthoracic echocardiography. Catheter Cardiovasc Interv (2001) 1.43
Experimental autoimmune myasthenia induced in monkeys by purified acetylcholine receptor. Nature (1975) 1.43
Plasma oxytocin levels and anxiety in patients with major depression. Psychoneuroendocrinology (2007) 1.42
Reduced dopaminergic activity in depressed suicides. Psychoneuroendocrinology (2001) 1.42
Electromechanical characterization of acute experimental myocardial infarction. J Invasive Cardiol (1999) 1.42
Pediatric emergency medicine education in emergency medicine training programs. SAEM Pediatric Education Training Task Force. Society for Academic Emergency Medicine. Acad Emerg Med (2000) 1.42
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology (2007) 1.42
Polyploidies in abortion material decrease with maternal age. Hum Genet (1993) 1.40
Immunochemical studies on acetylcholine receptor from Torpedo californica. Immunochemistry (1977) 1.39
Debate. Assisted reproductive techniques - are we avoiding the genetic issues? Hum Reprod (1996) 1.38
Therapeutic interventions for enhancing collateral development by administration of growth factors: basic principles, early results and potential hazards. Cardiovasc Res (2001) 1.36
Strain differences in the autoimmune response of mice to acetylcholine receptors. Nature (1976) 1.34
Disruption of the dopamine D3 receptor gene produces renin-dependent hypertension. J Clin Invest (1998) 1.34
Studies on the mechanism of the enzymic catalysis of disulfide interchange in proteins. J Biol Chem (1967) 1.33
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology (2002) 1.32
Mapping of the alpha-bungarotoxin binding site within the alpha subunit of the acetylcholine receptor. Proc Natl Acad Sci U S A (1986) 1.32
[Determination of visual function in legal assessment]. Ophthalmologe (2007) 1.30
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat (1993) 1.29
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet (1991) 1.29
The tyrosyl residues at the active site of staphylococcal nuclease. Modifications by tetranitromethane. J Biol Chem (1968) 1.27
Differences in immune response to synthetic antigens in two inbred strains of guinea-pigs. Immunology (1967) 1.26
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet (1986) 1.25
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet (1996) 1.25
Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest (2004) 1.25
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Am J Med Genet (2000) 1.25
Antibodies to synthetic peptides as probes for the binding site on the alpha subunit of the acetylcholine receptor. Proc Natl Acad Sci U S A (1985) 1.25
Factors influencing posttraumatic seizures in children. Neurosurgery (1988) 1.24
Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease. Am J Med Genet (1996) 1.23
A single locus determines thelytokous parthenogenesis of laying honeybee workers (Apis mellifera capensis). Heredity (Edinb) (2005) 1.23
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet (1992) 1.22
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet (1992) 1.22
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat (1999) 1.22
Identification of a hexapeptide that mimics a conformation-dependent binding site of acetylcholine receptor by use of a phage-epitope library. Proc Natl Acad Sci U S A (1993) 1.21
Clinical diagnosis of partial duplication 7q. Am J Med Genet (1990) 1.20
The binding of nucleotides and calcium to the extracellular nuclease of Staphylococcus aureus. Studies by gel filtration. J Biol Chem (1967) 1.20
Immunochemical determination of tubulin. FEBS Lett (1977) 1.19
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am J Hum Genet (1995) 1.18
Autoradiographic study of the incorporation of uridine-3H during myogenesis in tissue culture. Dev Biol (1967) 1.18
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet (1994) 1.18