Published in Mamm Genome on January 01, 2000
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
Functionally enigmatic genes: a case study of the brain ignorome. PLoS One (2014) 0.96
The complete genome sequence of the gastric pathogen Helicobacter pylori. Nature (1997) 34.00
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54
The complete genome sequence of the hyperthermophilic, sulphate-reducing archaeon Archaeoglobus fulgidus. Nature (1997) 14.38
Participatory research maximises community and lay involvement. North American Primary Care Research Group. BMJ (1999) 9.96
Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Abscisic Acid and transpiration in leaves in relation to osmotic root stress. Plant Physiol (1970) 7.92
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23
Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39
Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (1994) 5.34
High-efficiency cloning of full-length cDNA; construction and screening of cDNA expression libraries for mammalian cells. Methods Enzymol (1987) 5.08
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
The ubiquitin pathway in Parkinson's disease. Nature (1998) 4.48
CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res (1998) 3.77
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64
Hematopoietic cells differentiate into both microglia and macroglia in the brains of adult mice. Proc Natl Acad Sci U S A (1997) 3.59
Cannabinoid-induced mesenteric vasodilation through an endothelial site distinct from CB1 or CB2 receptors. Proc Natl Acad Sci U S A (1999) 3.54
Abscisic Acid and cytokinin contents of leaves in relation to salinity and relative humidity. Plant Physiol (1971) 3.40
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24
Corticosteroid therapy of alcoholic hepatitis. Gastroenterology (1978) 3.21
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nat Genet (1994) 3.10
Insulin receptors are widely distributed in the central nervous system of the rat. Nature (1978) 3.07
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet (2002) 3.07
DNA markers for nervous system diseases. Science (1984) 3.02
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (1995) 2.96
Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet (1998) 2.90
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83
Immunomodulation by cannabinoids is absent in mice deficient for the cannabinoid CB(2) receptor. Eur J Pharmacol (2000) 2.83
Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet (1998) 2.81
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Huntington's disease. Pathogenesis and management. N Engl J Med (1986) 2.77
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet (2000) 2.67
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev (1998) 2.66
Familial dysautonomia: diagnosis, pathogenesis and management. Adv Pediatr (1974) 2.60
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet (1999) 2.60
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A (1999) 2.53
Cytokinin and inhibitor activities in the avocado fruit mesocarp. Plant Physiol (1970) 2.48
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum Mol Genet (1996) 2.45
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet (2000) 2.43
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science (1998) 2.42
Molecular cloning and expression of the cDNA for the alpha 1A-adrenergic receptor. The gene for which is located on human chromosome 5. J Biol Chem (1991) 2.35
Antibiotic resistance as a stress response: complete sequencing of a large number of chromosomal loci in Staphylococcus aureus strain COL that impact on the expression of resistance to methicillin. Microb Drug Resist (1999) 2.35
Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene (1997) 2.32
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet (1999) 2.20
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A (2003) 2.15
Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma. EMBO J (1995) 2.14
Sampling variability on percutaneous liver biopsy. Arch Intern Med (1979) 2.12
Cloning of a serotonin transporter affected by antidepressants. Science (1991) 2.12
Immunohistochemical signal amplification by catalyzed reporter deposition and its application in double immunostaining. J Histochem Cytochem (1996) 2.11
c-Src regulates the simultaneous rearrangement of actin cytoskeleton, p190RhoGAP, and p120RasGAP following epidermal growth factor stimulation. J Cell Biol (1995) 2.06
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (1987) 2.06
Traumatic subarachnoid-pleural fistula. Ann Thorac Surg (1996) 2.05
Aging and ethanol metabolism. Clin Pharmacol Ther (1977) 1.99
Role of VraSR in antibiotic resistance and antibiotic-induced stress response in Staphylococcus aureus. Antimicrob Agents Chemother (2006) 1.94
Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A (1995) 1.94
Evolutionary sequence comparisons using high-density oligonucleotide arrays. Nat Genet (1998) 1.90
SarT, a repressor of alpha-hemolysin in Staphylococcus aureus. Infect Immun (2001) 1.89
Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. Proc Natl Acad Sci U S A (1984) 1.88
Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet (2007) 1.86
An improved approach to prepare human brains for research. J Neuropathol Exp Neurol (1995) 1.84
Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet (1991) 1.84
Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proc Natl Acad Sci U S A (1982) 1.83
Reference ranges and sources of variability of CD4 counts in HIV-seronegative women and men. Genitourin Med (1996) 1.82
Injuries of the spine sustained during rugby. Sports Med (1988) 1.82
Genetic linkage map of human chromosome 21. Genomics (1988) 1.79
Induction of erythroid differentiation in vitro by purines and purine analogues. Cell (1976) 1.76
Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics (1987) 1.75
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet (1993) 1.73