Published in Genomics on February 01, 1991
AFLP: a new technique for DNA fingerprinting. Nucleic Acids Res (1995) 45.26
Drug development and testing in relation to cell migration and chimerism. Transplant Proc (1993) 1.52
X-ray-induced mutations in mouse embryonic stem cells. Proc Natl Acad Sci U S A (1998) 1.18
Identification of selected gamma-ray induced deficiencies in zebrafish using multiplex polymerase chain reaction. Genetics (1996) 1.10
High frequency of genomic deletions induced by Me-lex, a sequence selective N3-adenine methylating agent, at the Hprt locus in Chinese hamster ovary cells. Mutat Res (2009) 0.82
Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol (1995) 0.79
Reduction of the toxicity and mutagenicity of aziridine in mammalian cells harboring the Escherichia coli fpg gene. Nucleic Acids Res (1996) 0.77
New nucleotide sequence data on the EMBL File Server. Nucleic Acids Res (1991) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
DNA diagnostics--molecular techniques and automation. Science (1988) 8.85
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A (1989) 8.68
Chicago classification criteria of esophageal motility disorders defined in high resolution esophageal pressure topography. Neurogastroenterol Motil (2012) 7.24
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci U S A (1984) 6.48
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics (1992) 6.40
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet (1991) 6.20
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10
Automated DNA sequencing of the human HPRT locus. Genomics (1990) 5.92
Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science (1988) 5.72
Construction of plasmids that express E. coli beta-galactosidase in mammalian cells. Nucleic Acids Res (1989) 5.02
Identification of the gene responsible for Best macular dystrophy. Nat Genet (1998) 4.89
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature (1993) 4.87
Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res (1997) 4.82
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res (1996) 4.75
The Chicago Classification of esophageal motility disorders, v3.0. Neurogastroenterol Motil (2014) 4.69
DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet (1992) 4.22
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2. Proc Natl Acad Sci U S A (1985) 3.94
Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res (1998) 3.80
Molecular characterization of a neuronal low-voltage-activated T-type calcium channel. Nature (1998) 3.77
Expression of peptide chain release factor 2 requires high-efficiency frameshift. Nature (1986) 3.60
Characterization of the human cysteinyl leukotriene CysLT1 receptor. Nature (1999) 3.57
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet (1996) 3.45
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
Disease diagnosis by recombinant DNA methods. Science (1987) 3.06
Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants. Nucleic Acids Res (1982) 3.00
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A (1989) 2.97
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics (1990) 2.84
Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet (1984) 2.84
Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse. Proc Natl Acad Sci U S A (1996) 2.77
Histochemical staining of clonal mammalian cell lines expressing E. coli beta galactosidase indicates heterogeneous expression of the bacterial gene. Somat Cell Mol Genet (1987) 2.77
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase. Genetics (1972) 2.71
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. Proc Natl Acad Sci U S A (1982) 2.62
Evaluation of esophageal motor function in clinical practice. Neurogastroenterol Motil (2013) 2.54
A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. Proc Natl Acad Sci U S A (1996) 2.52
The HPRT locus. Cell (1979) 2.49
Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. Circ Res (1998) 2.49
Locus control region function and heterochromatin-induced position effect variegation. Science (1996) 2.42
Two independent mutational events in the loss of urate oxidase during hominoid evolution. J Mol Evol (1992) 2.35
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet (1998) 2.34
PCR test for cystic fibrosis deletion. Nature (1990) 2.26
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet (1996) 2.23
Sequential translation of trinucleotide codons for the initiation and termination of protein synthesis. Science (1968) 2.20
Large-scale concatenation cDNA sequencing. Genome Res (1997) 2.18
An economic evaluation of a genetic screening program for Tay-Sachs disease. Am J Hum Genet (1978) 2.17
Post-prandial reflux suppression by a raft-forming alginate (Gaviscon Advance) compared to a simple antacid documented by magnetic resonance imaging and pH-impedance monitoring: mechanistic assessment in healthy volunteers and randomised, controlled, double-blind study in reflux patients. Aliment Pharmacol Ther (2013) 2.17
Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res (1997) 2.17
Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet (1994) 2.15
Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res (1989) 2.14
Fatality rates and regulatory policies in bituminous coal mining, United States, 1959-1981. Am J Public Health (1983) 2.11
Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin. Cell (1976) 2.10
Deletion and amplification of the HGPRT locus in Chinese hamster cells. Mol Cell Biol (1983) 2.10
The molecular basis of the sparse fur mouse mutation. Science (1987) 2.09
Relationship between x-ray exposure and malignant transformation in C3H 10T1/2 cells. Proc Natl Acad Sci U S A (1980) 2.08
Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences. Proc Natl Acad Sci U S A (1983) 2.07
Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol (1986) 2.07
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature (1984) 2.07
Opinion statement on the minimal acceptable standards of healthcare in cerebral palsy. Disabil Rehabil (2001) 2.05
Characterization of an unusual strain of proteus rettgeri associated with an outbreak of nosocomial urinary-tract infection. Appl Microbiol (1971) 2.01
RNA codons and protein synthesis. 15. Dissimilar responses of mammalian and bacterial transfer RNA fractions to messenger RNA codons. J Mol Biol (1968) 2.00
Effects of baclofen on the functional anatomy of the oesophago-gastric junction and proximal stomach in healthy volunteers and patients with GERD assessed by magnetic resonance imaging and high-resolution manometry: a randomised controlled double-blind study. Aliment Pharmacol Ther (2014) 1.99
Fine structure of RNA codewords recognized by bacterial, amphibian, and mammalian transfer RNA. Science (1967) 1.99
VY bipedicle flap for resurfacing the nasal supratip region. Plast Reconstr Surg (1989) 1.98
Translational frameshifting: where will it stop? Cell (1987) 1.93
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet (1991) 1.93
Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family. Biochem Biophys Res Commun (1998) 1.93
DNA chips: promising toys have become powerful tools. Trends Biochem Sci (1999) 1.93
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology (1989) 1.88
Hyperuricemia and urate nephropathy in urate oxidase-deficient mice. Proc Natl Acad Sci U S A (1994) 1.88
Urate oxidase: primary structure and evolutionary implications. Proc Natl Acad Sci U S A (1989) 1.85
Peptide chain termination with mammalian release factor. Proc Natl Acad Sci U S A (1970) 1.82
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein. Proc Natl Acad Sci U S A (1981) 1.81
Rescue, propagation, and partial purification of a helper virus-dependent adenovirus vector. Proc Natl Acad Sci U S A (1995) 1.81
Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor. Proc Natl Acad Sci U S A (1971) 1.79
Mutations affecting the structure of hypoxanthine: guanine phosphoribosyltransferase in cultured Chinese hamster cells. Proc Natl Acad Sci U S A (1973) 1.78
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science (1987) 1.76
An adenoviral vector deleted for all viral coding sequences results in enhanced safety and extended expression of a leptin transgene. Proc Natl Acad Sci U S A (1998) 1.76
Characterization of reticulocyte release factor. J Biol Chem (1977) 1.76
TAC use and absorption of cocaine in a pediatric emergency department. Ann Emerg Med (1990) 1.75
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet (1995) 1.74
Fatal hepatoxicity secondary to nimesulide. Eur J Clin Pharmacol (2001) 1.72
HPRT: gene structure, expression, and mutation. Annu Rev Genet (1985) 1.72
Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science (1988) 1.70
Peptide chain termination. V. The role of release factors in mRNA terminator codon recognition. Proc Natl Acad Sci U S A (1969) 1.68
Hydrolysis of fMet-tRNA by peptidyl transferase. Proc Natl Acad Sci U S A (1971) 1.67
Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. Proc Natl Acad Sci U S A (2000) 1.67
Increased activity-regulating and neuroprotective efficacy of alpha-secretase-derived secreted amyloid precursor protein conferred by a C-terminal heparin-binding domain. J Neurochem (1996) 1.66
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc Natl Acad Sci U S A (1997) 1.66
Recent advances in peptide chain termination. Mol Microbiol (1990) 1.66