Published in Genomics on September 01, 1987
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Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res (1988) 1.51
A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proc Natl Acad Sci U S A (1990) 1.47
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A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet (1990) 1.41
Isolation and characterization of a human telomere. Nucleic Acids Res (1989) 1.26
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res (1988) 1.24
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Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am J Hum Genet (1992) 1.20
Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet (1991) 1.13
A recombination event that redefines the Huntington disease region. Am J Hum Genet (1992) 1.11
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet (1994) 1.10
The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. Proc Natl Acad Sci U S A (1989) 0.99
Structural and transcriptional analysis of a human subtelomeric repeat. Nucleic Acids Res (1991) 0.94
Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region. Am J Hum Genet (1989) 0.91
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A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
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Structure of a cannabinoid receptor and functional expression of the cloned cDNA. Nature (1990) 13.60
Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92
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Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23
Cloning and genomic organization of beclin 1, a candidate tumor suppressor gene on chromosome 17q21. Genomics (1999) 6.23
Identification of a family of muscarinic acetylcholine receptor genes. Science (1987) 6.21
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 psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med (1992) 5.51
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
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (2001) 5.28
Increased mortality, hypoactivity, and hypoalgesia in cannabinoid CB1 receptor knockout mice. Proc Natl Acad Sci U S A (1999) 5.11
Reduction in the rate of DNA reassociation by sequence divergence. J Mol Biol (1973) 4.94
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
Structure and biological activity of v-raf, a unique oncogene transduced by a retrovirus. Proc Natl Acad Sci U S A (1983) 4.82
Style self-incompatibility gene products of Nicotiana alata are ribonucleases. Nature (1990) 4.75
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet (2004) 4.73
A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet (1999) 4.14
CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
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
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 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
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron (1999) 3.50
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell (1995) 3.45
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
Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet (1986) 3.12
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08
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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
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84
The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet (1984) 2.84
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 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
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Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther (2013) 2.70
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
A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53
Persistent genetic abnormalities in Barrett's esophagus after photodynamic therapy. Gastroenterology (2000) 2.50
The complete coding sequence of the human raf oncogene and the corresponding structure of the c-raf-1 gene. Nucleic Acids Res (1986) 2.50
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Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
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Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42
Antagonist binding properties of five cloned muscarinic receptors expressed in CHO-K1 cells. Mol Pharmacol (1989) 2.42
A microsatellite genetic linkage map of human chromosome 18. Genomics (1993) 2.35
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Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
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Extent of high-grade dysplasia in Barrett's esophagus correlates with risk of adenocarcinoma. Gastroenterology (2001) 2.30
A genomewide screen for autism susceptibility loci. Am J Hum Genet (2001) 2.30
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30
Localization of cannabinoid receptor mRNA in rat brain. J Comp Neurol (1993) 2.27
A new substrate for investigating the specificity of beta-glucan hydrolases. FEBS Lett (1975) 2.23
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23
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
Characterization of the supernumerary chromosome in cat eye syndrome. Science (1986) 2.19
Structure and biological activity of human homologs of the raf/mil oncogene. Mol Cell Biol (1985) 2.19
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
Self-incompatibility: a self-recognition system in plants. Science (1990) 2.17
Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome. Prenat Diagn (1994) 2.17
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16
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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 2.15
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A (2003) 2.15
A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet (1999) 2.12
Clinical markers of early disease in persons near onset of Huntington's disease. Neurology (2001) 2.11
An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J Cell Biol (1999) 2.10
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (1987) 2.06
The molecular basis of muscarinic receptor diversity. Trends Neurosci (1989) 2.04