Published in Hum Genet on January 01, 1984
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Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells. Mol Cell Biol (1989) 1.36
Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11. Proc Natl Acad Sci U S A (1990) 1.04
Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. J Med Genet (1986) 0.92
Gene mapping of mineral metabolic disorders. J Inherit Metab Dis (1989) 0.88
The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome. J Med Genet (1989) 0.83
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Brucella abortus 16S rRNA and lipid A reveal a phylogenetic relationship with members of the alpha-2 subdivision of the class Proteobacteria. J Bacteriol (1990) 3.36
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet (1998) 3.12
DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet (1984) 2.79
A prospective two-year study of functional restoration in industrial low back injury. An objective assessment procedure. JAMA (1987) 2.75
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Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26
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Genetics of the apolipoprotein E system in man. Am J Hum Genet (1980) 1.94
Monoclonal antibodies to double-stranded RNA as probes of RNA structure in crude nucleic acid extracts. Nucleic Acids Res (1991) 1.92
Biosynthesis of enterobacterial common antigen in Escherichia coli. Biochemical characterization of Tn10 insertion mutants defective in enterobacterial common antigen synthesis. J Biol Chem (1990) 1.92
Isolation and chemical characterization of the enterobacterial common antigen. Eur J Biochem (1978) 1.91
Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin. Cell (1984) 1.82
Expression of human bone morphogenetic proteins-2 or -4 in murine mesenchymal progenitor C3H10T1/2 cells induces differentiation into distinct mesenchymal cell lineages. DNA Cell Biol (1993) 1.81
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Human gene cloning: the storm before the lull? Nature (1986) 1.78
The interaction of the EcoRI restriction endonuclease with its substrate. A physico-chemical study employing natural and synthetic oligonucleotides and polynucleotides. Eur J Biochem (1980) 1.75
Retinoids, a new class of compounds with prophylactic and therapeutic activities in oncology and dermatology. Experientia (1978) 1.75
Biosynthesis of enterobacterial common antigen. J Bacteriol (1985) 1.72
A multicenter, randomized, double-blind trial of everolimus versus azathioprine and placebo to maintain steroid-induced remission in patients with moderate-to-severe active Crohn's disease. Am J Gastroenterol (2008) 1.70
Chemical structure and biological activities of lipid A's from various bacterial families. Naturwissenschaften (1978) 1.69
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J Clin Endocrinol Metab (1999) 1.67
A new pathway for protein export in Saccharomyces cerevisiae. J Cell Biol (1996) 1.66
Occurrence of lipid A variants with 27-hydroxyoctacosanoic acid in lipopolysaccharides from members of the family Rhizobiaceae. J Bacteriol (1991) 1.65
Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet (1996) 1.65
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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61
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Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Eukaryotic DNA methylation. Hum Genet (1983) 1.57
Cytokine induction by lipopolysaccharide (LPS) corresponds to lethal toxicity and is inhibited by nontoxic Rhodobacter capsulatus LPS. Infect Immun (1990) 1.54
Networking for rare diseases: a necessity for Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz (2007) 1.53
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
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Different sugar compositions of lipopolysaccharides isolated from phase I and pure phase II cells of Coxiella burnetii. Infect Immun (1982) 1.51
Diagnosis of genetic disease using recombinant DNA. Supplement. Hum Genet (1987) 1.50
Lipopolysaccharide containing L-acofriose in the filamentous blue-green alga Anabaena variabilis. J Bacteriol (1974) 1.50
L-29, an endogenous lectin, binds to glycoconjugate ligands with positive cooperativity. Biochemistry (1993) 1.47
p53 mutations, benzo[a]pyrene and lung cancer. Mutagenesis (1998) 1.47
Relationship between asthma and gastro-oesophageal reflux. Thorax (1981) 1.45
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Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet (1987) 1.41
A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Med Genet (1991) 1.41
Sex difference in D7S8 marker allele distribution in adult cystic fibrosis patients. Lancet (1989) 1.39
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Adult-onset genetic disease: mechanisms, analysis and prediction. QJM (1997) 1.39
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet (1997) 1.38
Immunogenicity of the common enterobacterial antigen produced by smooth and rough strains. Infect Immun (1972) 1.35
The molecular genetics of growth hormone deficiency. Hum Genet (1998) 1.33
Complex polysaccharides in different strains of Escherichia coli K-12. Ann N Y Acad Sci (1966) 1.32
Genetic location of genes encoding enterobacterial common antigen. J Bacteriol (1985) 1.32
Presence of rfe genes in Escherichia coli: their participation in biosynthesis of O antigen and enterobacterial common antigen. J Bacteriol (1976) 1.32
Modification of the lipid moiety of the enterobacterial common antigen by the "Pseudomonas factor". Infect Immun (1983) 1.30
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet (1998) 1.29
Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Hum Genet (1987) 1.28
Polymerase chain reaction: replication errors and reliability of gene diagnosis. Nucleic Acids Res (1989) 1.27
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26
Does fall in tissue glucose precede fall in blood glucose? Diabetologia (1996) 1.26
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26
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Progressive isoinertial lifting evaluation. I. A standardized protocol and normative database. Spine (Phila Pa 1976) (1988) 1.24
Assignment of the human parathyroid hormone gene to chromosome 11. Hum Genet (1983) 1.23
Identification of a 2, 3-diamino-2, 3-dideoxyhexose in the lipid A component of lipopolysaccharides of Rhodopseudomonas viridis and Rhodopseudomonas palustris. Carbohydr Res (1975) 1.23
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet (2010) 1.23
Disease-causing mutations in the human genome. Eur J Pediatr (2000) 1.22