Published in J Invest Dermatol on September 01, 1998
Human epidermal proopiomelanocortin (POMC) cDNA variant is identical to mouse POMC cDNA. J Invest Dermatol (1999) 0.75
Serotyping of Campylobacter jejuni by slide agglutination based on heat-labile antigenic factors. J Clin Microbiol (1982) 10.32
Refugee doctors in Britain: a wasted resource. BMJ (1997) 5.68
Forensic application of DNA 'fingerprints'. Nature (1986) 5.19
Breaking down language barriers. The NHS needs to provide accessible interpreting services for all. BMJ (1998) 5.09
A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet (1997) 5.07
The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways. Nat Neurosci (1999) 4.35
History of the enzyme nomenclature system. Bioinformatics (2000) 3.90
beta-Amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity. Cell (1995) 3.33
Warm-coding deficits and aberrant inflammatory pain in mice lacking P2X3 receptors. Nature (2000) 2.73
The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med (1993) 2.64
Genetic variation of recent Alu insertions in human populations. J Mol Evol (1996) 2.56
Tumorigenesis and metastasis of neoplastic Kaposi's sarcoma cell line in immunodeficient mice blocked by a human pregnancy hormone. Nature (1995) 2.56
Analysing and presenting qualitative data. Br Dent J (2008) 2.37
DNA recommendations. Further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. International Society for Forensic Haemogenetics. Int J Legal Med (1997) 2.35
A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques (1993) 2.35
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int (2006) 2.22
Conventional and radiometric drug susceptibility testing of Mycobacterium tuberculosis complex. J Clin Microbiol (1983) 2.08
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med (2006) 2.00
Analysis and interpretation of mixed forensic stains using DNA STR profiling. Forensic Sci Int (1998) 1.89
Age-related cognitive deficits, impaired long-term potentiation and reduction in synaptic marker density in mice lacking the beta-amyloid precursor protein. Neuroscience (1999) 1.88
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span. J Lipid Res (2001) 1.85
Automated DNA profiling employing multiplex amplification of short tandem repeat loci. PCR Methods Appl (1993) 1.82
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet (1991) 1.81
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet (2007) 1.81
Learning to value ethnic diversity--what, why and how? Med Educ (1999) 1.75
Urinary tract infection in young women, with special reference to Staphylococcus saprophyticus. J Clin Pathol (1978) 1.70
Seroprevalence of human herpesvirus-8 (HHV-8) in countries of Southeast Asia compared to the USA, the Caribbean and Africa. Br J Cancer (1999) 1.68
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum Mol Genet (1998) 1.67
Etoricoxib (MK-0663): preclinical profile and comparison with other agents that selectively inhibit cyclooxygenase-2. J Pharmacol Exp Ther (2001) 1.65
What are melanocytes really doing all day long...? Exp Dermatol (2009) 1.65
Neural mechanisms underlying parkinsonian symptoms based upon regional uptake of 2-deoxyglucose in monkeys exposed to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Neuroscience (1989) 1.64
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet (1989) 1.64
Rofecoxib [Vioxx, MK-0966; 4-(4'-methylsulfonylphenyl)-3-phenyl-2-(5H)-furanone]: a potent and orally active cyclooxygenase-2 inhibitor. Pharmacological and biochemical profiles. J Pharmacol Exp Ther (1999) 1.63
Primary prevention of cardiovascular disease: a web-based risk score for seven British black and minority ethnic groups. Heart (2006) 1.56
Effects of a urinary factor from women in early pregnancy on HIV-1, SIV and associated disease. Nat Med (1998) 1.55
Socio-economic characteristics of adult frequent attenders in general practice: secondary analysis of data. Fam Pract (2000) 1.55
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem (1994) 1.52
Binding of melanotropic hormones to the melanocortin receptor MC1R on human melanocytes stimulates proliferation and melanogenesis. Endocrinology (1996) 1.52
The microbiology of selected retail food products with an evaluation of viable counting methods. J Hyg (Lond) (1984) 1.46
Pressure to prescribe. BMJ (1997) 1.46
Isolation and characterization of an immortal neoplastic cell line (KS Y-1) from AIDS-associated Kaposi's sarcoma. J Natl Cancer Inst (1995) 1.46
Forensic application of a rapid and quantitative DNA sex test by amplification of the X-Y homologous gene amelogenin. Int J Legal Med (1994) 1.44
Biochemical and pharmacological profile of a tetrasubstituted furanone as a highly selective COX-2 inhibitor. Br J Pharmacol (1997) 1.44
Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. Forensic Sci Int (2001) 1.43
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis (2008) 1.41
Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet (1990) 1.41
Acute compartment syndrome in the forearm following closed reduction and K-wiring of wrist fracture. Injury (2005) 1.40
Perceptions of first year foundation dentists on oral health education and its role in general dental practice. Br Dent J (2010) 1.39
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet (1987) 1.38
A comparison of the characteristics of profiles produced with the AMPFlSTR SGM Plus multiplex system for both standard and low copy number (LCN) STR DNA analysis. Forensic Sci Int (2001) 1.38
DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing. Forensic Sci Int (2000) 1.37
Pharmacology of a selective cyclooxygenase-2 inhibitor, L-745,337: a novel nonsteroidal anti-inflammatory agent with an ulcerogenic sparing effect in rat and nonhuman primate stomach. J Pharmacol Exp Ther (1995) 1.37
Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase. J Biol Chem (1994) 1.36
European Network of Forensic Science Institutes (ENFSI): Evaluation of new commercial STR multiplexes that include the European Standard Set (ESS) of markers. Forensic Sci Int Genet (2012) 1.35
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. DNA (1988) 1.35
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab (2010) 1.35
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. Nucleic Acids Res (1989) 1.31
Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs. Mol Genet Metab (1999) 1.31
Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res (1976) 1.31
Human immunodeficiency virus tat modulates the Flk-1/KDR receptor, mitogen-activated protein kinases, and components of focal adhesion in Kaposi's sarcoma cells. J Virol (1998) 1.28
Interleukins 1 alpha and 6 and tumor necrosis factor-alpha are paracrine inhibitors of human melanocyte proliferation and melanogenesis. J Invest Dermatol (1991) 1.26
The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies. Int J Legal Med (1996) 1.26
Use of laser microdissection greatly improves the recovery of DNA from sperm on microscope slides. Forensic Sci Int (2003) 1.23
Virulence properties and serotypes of Shiga toxin-producing Escherichia coli from healthy Australian slaughter-age sheep. J Clin Microbiol (2001) 1.22
Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise. Forensic Sci Int (2005) 1.21
Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity. J Biol Chem (1993) 1.21
Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet (1985) 1.21
A further tetranucleotide repeat polymorphism in the vWF gene. Hum Mol Genet (1992) 1.20
Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci U S A (1986) 1.20
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Am J Hum Genet (1989) 1.19
Prevention of lower extremity stress fractures: a controlled trial of a shock absorbent insole. Am J Public Health (1988) 1.19
AIDS-associated Kaposi's sarcoma-derived cells in long-term culture express and synthesize smooth muscle alpha-actin. Am J Pathol (1991) 1.19
Differential membrane interactions of saposins A and C: implications for the functional specificity. J Biol Chem (2001) 1.18
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A (2008) 1.18
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology (1981) 1.18
Interpretation of repeat measurement DNA evidence allowing for multiple contributors and population substructure. Forensic Sci Int (2005) 1.18
DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. Int J Legal Med (2000) 1.18
Nosocomial infantile gastroenteritis associated with minirotavirus and calicivirus. J Pediatr (1978) 1.18
Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet (2001) 1.17
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. Am J Hum Genet (1985) 1.17
Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet (1993) 1.16
New reference allelic ladders to improve allelic designation in a multiplex STR system. Int J Legal Med (1998) 1.16
Increased mortality after coronary artery bypass graft surgery is associated with increased levels of postoperative creatine kinase-myocardial band isoenzyme release: results from the GUARDIAN trial. J Am Coll Cardiol (2001) 1.14
Mycoplasma hominis: growth, reproduction, and isolation of small viable cells. J Bacteriol (1975) 1.13
The recombination landscape around forensic STRs: Accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data. Forensic Sci Int Genet (2011) 1.13
Neurological phenotype and synaptic function in mice lacking the CaV1.3 alpha subunit of neuronal L-type voltage-dependent Ca2+ channels. Neuroscience (2003) 1.13
Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing. Genomics (1996) 1.12
The validation of short tandem repeat (STR) loci for use in forensic casework. Int J Legal Med (1994) 1.12
Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma. Am J Pathol (1996) 1.12
Functional organization of saposin C. Definition of the neurotrophic and acid beta-glucosidase activation regions. J Biol Chem (1996) 1.11
The pathophysiologic changes following bile aspiration in a porcine lung model. Chest (1993) 1.11
Qualitative research in dentistry. Br Dent J (2008) 1.11
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. DNA Cell Biol (1991) 1.11
The serotonin transporter is a potential susceptibility factor for bipolar affective disorder. Neuroreport (1996) 1.10
An exploratory study of language interpretation services provided by videoconferencing. J Telemed Telecare (2003) 1.10
Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci (2002) 1.09
Ethnicity and tracking blood pressure in children. J Hum Hypertens (2004) 1.09
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. Am J Hum Genet (1986) 1.09