Published in J Med Genet on May 01, 1994
The genetics of inherited macular dystrophies. J Med Genet (2003) 1.14
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. J Med Genet (1995) 1.00
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis (2009) 0.93
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. Am J Hum Genet (1994) 0.89
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. Mol Vis (2011) 0.82
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations. Eye (Lond) (2010) 0.77
Unilateral BEST1-Associated Retinopathy. Am J Ophthalmol (2016) 0.75
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. J Med Genet (1998) 0.75
Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A (1984) 48.41
A second-generation linkage map of the human genome. Nature (1992) 16.32
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol (1962) 5.02
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics (1991) 3.93
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet (1993) 3.62
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature (1991) 2.90
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol (1969) 2.08
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet (1993) 1.55
Electro-oculography in vitelliform degeneration of the macula. Arch Ophthalmol (1967) 1.24
Hereditary vitelliruptive macular degeneration. Am J Ophthalmol (1966) 1.15
Dinucleotide repeat polymorphism at the int-2 proto-oncogene locus (INT2). Nucleic Acids Res (1990) 1.08
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet (1992) 1.08
HEREDITARY VITELLINE MACULAR DEGENERATION. A CLINICAL AND FUNCTIONAL EVALUATION OF A NEW PEDIGREE WITH VARIABLE EXPRESSIVITY AND DOMINANT INHERITANCE. Arch Ophthalmol (1964) 1.07
Three light-evoked responses of the retinal pigment epithelium. Vision Res (1983) 1.05
An international standard for electroretinography. Doc Ophthalmol (1989) 1.01
Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. Arch Ophthalmol (1989) 1.00
Dinucleotide repeat polymorphism at the D11S527 locus. Nucleic Acids Res (1991) 0.93
Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. Clin Genet (1980) 0.88
Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. Hereditas (1977) 0.87
Genetic analysis using fingernail DNA. Nucleic Acids Res (1992) 0.86
Electroretinography and electro-oculography in diseases of the posterior pole of the eye. Bibl Ophthalmol (1969) 0.82
Dinucleotide repeat polymorphism at the D11S534 locus. Nucleic Acids Res (1991) 0.81
Inflammation and Alzheimer's disease. Neurobiol Aging (2000) 12.56
Ischaemic preconditioning. BMJ (1994) 10.92
The genome of the social amoeba Dictyostelium discoideum. Nature (2005) 9.18
Species realities and numbers in sexual vertebrates: perspectives from an asexually transmitted genome. Proc Natl Acad Sci U S A (1999) 6.49
The glucocorticoid receptor: rapid exchange with regulatory sites in living cells. Science (2000) 6.17
Purification and cloning of amyloid precursor protein beta-secretase from human brain. Nature (1999) 5.77
Genome sequence of the enterobacterial phytopathogen Erwinia carotovora subsp. atroseptica and characterization of virulence factors. Proc Natl Acad Sci U S A (2004) 4.87
The purification and properties of sucrose-phosphate synthetase from spinach leaves: the involvement of this enzyme and fructose bisphosphatase in the regulation of sucrose biosynthesis. Arch Biochem Biophys (1981) 4.29
Pleistocene phylogeographic effects on avian populations and the speciation process. Proc Biol Sci (1998) 4.26
Speciation durations and Pleistocene effects on vertebrate phylogeography. Proc Biol Sci (1998) 3.66
BSR & BHPR, BOA, RCGP and BSAC guidelines for management of the hot swollen joint in adults. Rheumatology (Oxford) (2006) 3.22
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet (1994) 3.11
Phenylbutazone and isoniazid metabolism in patients with liver disease in relation to previous drug therapy. Lancet (1968) 3.10
Characterization of the cell-wall polysaccharides of Arabidopsis thaliana leaves. Plant Physiol (1995) 3.03
The genome of the simian and human malaria parasite Plasmodium knowlesi. Nature (2008) 3.02
ATP-dependent branch migration of Holliday junctions promoted by the RuvA and RuvB proteins of E. coli. Cell (1992) 2.97
Multipotential nestin-positive stem cells isolated from adult pancreatic islets differentiate ex vivo into pancreatic endocrine, exocrine, and hepatic phenotypes. Diabetes (2001) 2.95
BioSense: implementation of a National Early Event Detection and Situational Awareness System. MMWR Morb Mortal Wkly Rep (2005) 2.90
A conformational switch controlling HIV-1 morphogenesis. EMBO J (2000) 2.86
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. Nature (1997) 2.60
Large-scale chromatin decondensation and recondensation regulated by transcription from a natural promoter. J Cell Biol (2001) 2.43
Studies with an enthesis index as a method of clinical assessment in ankylosing spondylitis. Ann Rheum Dis (1987) 2.29
Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14 kDa Sm D1-like protein. EMBO J (2001) 2.29
Dimerization of human immunodeficiency virus type 1 reverse transcriptase. A target for chemotherapeutic intervention. J Biol Chem (1990) 2.24
Observations on the phosphate status and intracellular pH of intact cells, protoplasts and chloroplasts from photosynthetic tissue using phosphorus-31 nuclear magnetic resonance. Biochem J (1982) 2.24
Selective recognition of cyclic RGD peptides of NMR defined conformation by alpha IIb beta 3, alpha V beta 3, and alpha 5 beta 1 integrins. J Biol Chem (1994) 2.22
Better substrates for bacterial transglycosylases. J Am Chem Soc (2001) 2.22
Molecular changes in the polymerase genes (PA and PB1) associated with high pathogenicity of H5N1 influenza virus in mallard ducks. J Virol (2007) 2.20
The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein. EMBO J (1997) 2.19
Measles, mumps, and rubella: the need for a change in immunisation policy. Br Med J (Clin Res Ed) (1986) 2.17
Structure and function of Parkin E3 ubiquitin ligase reveals aspects of RING and HECT ligases. Nat Commun (2013) 2.10
Detection of two viral genomes in single cells by double-label hybridization in situ and color microradioautography. Science (1985) 2.09
Human Fertility and Embryology Act 1990 discriminates against children. Children must not be denied future choice of using their gametes. BMJ (1998) 2.08
Clinical review 167: Procalcitonin and the calcitonin gene family of peptides in inflammation, infection, and sepsis: a journey from calcitonin back to its precursors. J Clin Endocrinol Metab (2004) 2.07
Type B lactic acidosis following cardiopulmonary bypass. Crit Care Med (1997) 2.05
The 1.9 A crystal structure of Escherichia coli MurG, a membrane-associated glycosyltransferase involved in peptidoglycan biosynthesis. Protein Sci (2000) 1.90
Estimation of tissue hypothyroidism by a new clinical score: evaluation of patients with various grades of hypothyroidism and controls. J Clin Endocrinol Metab (1997) 1.88
Intravenous immunoglobulin versus oral corticosteroids in acute immune thrombocytopenic purpura in childhood. Lancet (1985) 1.88
Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis. Arthritis Rheum (2000) 1.88
The immune response to a hybrid protein molecule; specificity of secondary stimulation and of tolerance induction. J Exp Med (1967) 1.86
A double-blind, randomized comparison of the efficacy and safety of intramuscular injections of olanzapine, lorazepam, or placebo in treating acutely agitated patients diagnosed with bipolar mania. J Clin Psychopharmacol (2001) 1.86
Measurement of the ascorbate content of spinach leaf protoplasts and chloroplasts during illumination. Planta (1983) 1.85
Foot and mouth disease: the human consequences. The health consequences are slight, the economic ones huge. BMJ (2001) 1.79
Biologic therapy in clinical practice: enthusiasm must be tempered by caution. Rheumatology (Oxford) (2003) 1.79
RuvA and RuvB proteins of Escherichia coli exhibit DNA helicase activity in vitro. Proc Natl Acad Sci U S A (1993) 1.77
Efficacy of silver diamine fluoride for Arresting Caries Treatment. J Dent Res (2009) 1.77
STP position paper: best practice guideline for the routine pathology evaluation of the immune system. Toxicol Pathol (2005) 1.67
Genetic evidence for extreme polyandry and extraordinary sex-role reversal in a pipefish. Proc Biol Sci (2001) 1.66
Structure and function of the Bacillus SpoIIE protein and its localization to sites of sporulation septum assembly. Mol Microbiol (1996) 1.64
Sural nerve pathology in diabetic patients with minimal but progressive neuropathy. Diabetologia (2005) 1.64
Surveillance of symptoms following MMR vaccine in children. Practitioner (1989) 1.63
The plasmin system is induced by and degrades amyloid-beta aggregates. J Neurosci (2000) 1.62
Screening for high-grade cervical intra-epithelial neoplasia and cancer by testing for high-risk HPV, routine cytology or colposcopy. Int J Cancer (2000) 1.60
A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet (2000) 1.58
Inflammation and Alzheimer's disease pathogenesis. Neurobiol Aging (1997) 1.56
Concerning a dual function of coupled cyclic electron transport in leaves. Plant Physiol (1992) 1.56
Factors contributing to the inhibition of HIV reverse transcriptase by chain-terminating nucleotides in vitro and in vivo. FEBS Lett (1991) 1.55
Bronchoalveolar lavage. Quantitation of intraalveolar fluid? Am Rev Respir Dis (1993) 1.54
A controlled comparison of two treatments for nocturnal enuresis. J Pediatr (1982) 1.54
MUM1 expression in cutaneous CD30+ lymphoproliferative disorders: a valuable tool for the distinction between lymphomatoid papulosis and primary cutaneous anaplastic large-cell lymphoma. Br J Dermatol (2008) 1.53
Graves' ophthalmopathy: natural history and treatment outcomes. Swiss Med Wkly (2001) 1.52
HLA-DRB1 genes, rheumatoid factor, and elevated C-reactive protein: independent risk factors of radiographic progression in early rheumatoid arthritis. Berlin Collaborating Rheumatological Study Group. J Rheumatol (2000) 1.49
Asymmetric replication of hepatitis B virus DNA in human liver: demonstration of cytoplasmic minus-strand DNA by blot analyses and in situ hybridization. Virology (1984) 1.48
Overweight and obesity in children with Attention-Deficit/Hyperactivity Disorder. Int J Obes Relat Metab Disord (2004) 1.48
Biomarkers in respiratory tract infections: diagnostic guides to antibiotic prescription, prognostic markers and mediators. Eur Respir J (2007) 1.47
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet (1994) 1.47
Incidence of Parkinson's disease in Norway: the Norwegian ParkWest study. J Neurol Neurosurg Psychiatry (2009) 1.46
Fertility preservation for children treated for cancer (1): scientific advances and research dilemmas. Arch Dis Child (2001) 1.46
Perception of sweet taste is important for voluntary alcohol consumption in mice. Genes Brain Behav (2007) 1.46
Intrauterine insemination: evaluation of the results according to the woman's age, sperm quality, total sperm count per insemination and life table analysis. Hum Reprod (1996) 1.43
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
Direct visualization of the human estrogen receptor alpha reveals a role for ligand in the nuclear distribution of the receptor. Mol Biol Cell (1999) 1.40
Dictation in the presence of the patient. Arch Fam Med (1998) 1.39
Linking research activities with policy and program design. Can J Public Health (1992) 1.39
Primary care guidelines in rheumatology. Rheumatology (Oxford) (2006) 1.39
Prospective 10-year follow-up in adolescent anorexia nervosa--course, outcome, psychiatric comorbidity, and psychosocial adaptation. J Child Psychol Psychiatry (2001) 1.38
Intrathecal sufentanil for labor analgesia does not cause a sympathectomy. Anesthesiology (1997) 1.38
Comparisons of ribosomal internal transcribed spacers from two congeneric species of flukes (Platyhelminthes: Trematoda: Digenea). Mol Biochem Parasitol (1992) 1.37
TSH-controlled L-thyroxine therapy reduces cholesterol levels and clinical symptoms in subclinical hypothyroidism: a double blind, placebo-controlled trial (Basel Thyroid Study). J Clin Endocrinol Metab (2001) 1.37
In vitro assembly properties of wild-type and cyclophilin-binding defective human immunodeficiency virus capsid proteins in the presence and absence of cyclophilin A. Virology (1999) 1.37
Management of septic arthritis: a systematic review. Ann Rheum Dis (2007) 1.37
p53 Protein exhibits 3'-to-5' exonuclease activity. Cell (1996) 1.36
Mechanism and cleavage specificity of the H-N-H endonuclease colicin E9. J Mol Biol (2001) 1.36
The effect of repeated ozone exposures on inflammatory markers in bronchoalveolar lavage fluid and mucosal biopsies. Am J Respir Crit Care Med (2000) 1.36
Termination of a transcription unit comprising highly expressed genes in the archaebacterium Methanococcus voltae. Nucleic Acids Res (1985) 1.36
Immunity proteins: enzyme inhibitors that avoid the active site. Trends Biochem Sci (2001) 1.35
Immunohistological analysis of cytokine expression in human osteoarthritic and healthy cartilage. J Rheumatol (1999) 1.33
Deregulation of EIF4E: a novel mechanism for autism. J Med Genet (2009) 1.31
Rickettsia honei sp. nov., the aetiological agent of Flinders Island spotted fever in Australia. Int J Syst Bacteriol (1998) 1.31
Putative compensatory mutations in the rpoC gene of rifampin-resistant Mycobacterium tuberculosis are associated with ongoing transmission. Antimicrob Agents Chemother (2012) 1.31
Abnormalities of neutrophil function do not cause the migration defect in Crohn's disease. Gut (1981) 1.31
2,3-dichloro-5,6-dicyanobenzoquinone and its reactions. Chem Rev (1967) 1.30
Vertical distribution of methanogens in the anoxic sediment of Rotsee (Switzerland). Appl Environ Microbiol (1999) 1.28
Synthesis in cell culture of the gapped linear duplex DNA of the slow virus visna. Virology (1985) 1.27
The application of multiscale modelling to the process of development and prevention of stenosis in a stented coronary artery. Philos Trans A Math Phys Eng Sci (2008) 1.27
Genetic abnormalities detected in ependymomas by comparative genomic hybridisation. Br J Cancer (2002) 1.26
Characterization of adult human marrow hematopoietic progenitors highly enriched by two-color cell sorting with My10 and major histocompatibility class II monoclonal antibodies. J Immunol (1987) 1.26
Gene expression during tuber development in potato plants. FEBS Lett (1990) 1.25