Published in Biochim Biophys Acta on July 18, 1984
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Am J Hum Genet (1988) 0.87
Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Am J Hum Genet (1989) 0.79
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
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
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
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
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
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64
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
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
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
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
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
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
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
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
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet (2003) 2.12
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (1987) 2.06
Decreased lubricin concentrations and markers of joint inflammation in the synovial fluid of patients with anterior cruciate ligament injury. Arthritis Rheum (2008) 2.04
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
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
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
Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet (1998) 1.72
The strain behavior of the anterior cruciate ligament during squatting and active flexion-extension. A comparison of an open and a closed kinetic chain exercise. Am J Sports Med (1998) 1.68
The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev (1997) 1.67
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet (1995) 1.67
Anterior cruciate ligament strain in-vivo: a review of previous work. J Biomech (1998) 1.67
The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA. Gene (1979) 1.67
Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res (1985) 1.66
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci U S A (1987) 1.63
Anterior cruciate ligament strain behavior during rehabilitation exercises in vivo. Am J Sports Med (1995) 1.63
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet (1994) 1.63
Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis. J Pediatr (1987) 1.63
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology (1999) 1.60
A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Res (2000) 1.58
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature (1987) 1.57
Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology (2003) 1.57
DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. DNA (1987) 1.56
The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet (1994) 1.55
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am J Hum Genet (1993) 1.55
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet (1996) 1.52
Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. Proc Natl Acad Sci U S A (1992) 1.52
Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. Science (1988) 1.51
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA (1986) 1.50
Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet (1993) 1.48
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet (1992) 1.46
A tiger behind many doors: multiple genetic pathways to malignant glioma. Trends Genet (1995) 1.45
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics (1996) 1.45
Quantitative neuropathological changes in presymptomatic Huntington's disease. Ann Neurol (2001) 1.44
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet (1993) 1.44
A DNA polymorphism for Huntington's disease marks the future. Arch Neurol (1985) 1.43
Isolation of the polypeptide chains of prekeratin. Biochim Biophys Acta (1975) 1.42
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics (1987) 1.42
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet (1990) 1.41
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum Mol Genet (1999) 1.41
Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol (1984) 1.39
A genetic linkage map of the long arm of human chromosome 22. Genomics (1989) 1.37
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet (1992) 1.36
Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer (1996) 1.34
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet (1999) 1.32
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet (2005) 1.32
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol (1995) 1.32
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet (1992) 1.31
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet (1999) 1.30
Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus. Proc Natl Acad Sci U S A (1992) 1.27
Physical mapping of a translocation breakpoint in neurofibromatosis. Science (1989) 1.27
Activation of Indian hedgehog promotes chondrocyte hypertrophy and upregulation of MMP-13 in human osteoarthritic cartilage. Osteoarthritis Cartilage (2012) 1.26
Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation. Blood (1980) 1.25
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet (1985) 1.25