Published in Am J Hum Genet on August 01, 1987
Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet (1988) 1.27
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet (1992) 1.21
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.17
Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet (1990) 1.13
Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome. Am J Hum Genet (1990) 0.96
Germinal mosaicism and risk calculation in X-linked diseases. Am J Hum Genet (1992) 0.92
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet (1989) 0.81
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem (1984) 66.58
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet (1984) 2.47
Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. Neurology (1986) 1.31
Gonadal mosaicism and genetic counseling for X-linked recessive lethals. Am J Hum Genet (1974) 1.14
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet (1986) 1.09
Pedigree testing in Duchenne muscular dystrophy. Ann Neurol (1977) 1.00
Prenatal detection of an inherited Duchenne muscular dystrophy deletion allele. Neurology (1987) 1.00
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science (1993) 33.32
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A (1993) 15.04
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery (1999) 6.89
Patterns of brain activation in people at risk for Alzheimer's disease. N Engl J Med (2000) 6.72
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science (1993) 5.78
Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci U S A (1993) 5.68
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet (1996) 5.15
Localization of FtsI (PBP3) to the septal ring requires its membrane anchor, the Z ring, FtsA, FtsQ, and FtsL. J Bacteriol (1999) 4.87
Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci U S A (1993) 4.86
Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease. Proc Natl Acad Sci U S A (2000) 4.85
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet (2001) 4.54
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet (1991) 4.19
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA (1997) 4.00
Efficacy of rosiglitazone in a genetically defined population with mild-to-moderate Alzheimer's disease. Pharmacogenomics J (2006) 3.92
The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet (1997) 3.70
Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. Mol Psychiatry (2008) 3.68
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell (1987) 3.60
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet (2000) 3.58
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45
Apolipoprotein E and Alzheimer's disease. Annu Rev Neurosci (1996) 3.26
Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. N Engl J Med (1998) 3.23
Towards single-copy gene expression systems making gene cloning physiologically relevant: lambda InCh, a simple Escherichia coli plasmid-chromosome shuttle system. J Bacteriol (2000) 3.14
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
Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79
GAW10: simulated family data for a common oligogenic disease with quantitative risk factors. Genet Epidemiol (1997) 2.68
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol (1989) 2.58
Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci U S A (1995) 2.53
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. JAMA (1997) 2.45
Important influence of respiration on human R-R interval power spectra is largely ignored. J Appl Physiol (1985) (1993) 2.39
Household exposure to passive cigarette smoking and serum micronutrient concentrations. Am J Clin Nutr (2000) 2.38
Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology (2006) 2.38
Zinc selectively blocks the action of N-methyl-D-aspartate on cortical neurons. Science (1987) 2.38
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36
A new probe for the diagnosis of myotonic muscular dystrophy. Science (1987) 2.35
A microsatellite genetic linkage map of human chromosome 18. Genomics (1993) 2.35
Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study. Diabetologia (2009) 2.32
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics (1992) 2.29
Immunohistochemical survey of p16INK4A expression in normal human adult and infant tissues. Lab Invest (1999) 2.27
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet (2003) 2.23
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med (1996) 2.19
Patellar resurfacing versus retention in total knee arthroplasty. J Bone Joint Surg Br (1996) 2.18
The aqueous pore through the translocon has a diameter of 40-60 A during cotranslational protein translocation at the ER membrane. Cell (1997) 2.09
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA (2000) 2.08
ApoE genotype and survival from intracerebral haemorrhage. Lancet (1995) 2.07
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet (2005) 2.06
Genotype-based association test for general pedigrees: the genotype-PDT. Genet Epidemiol (2003) 2.06
Neurocysticercosis in Houston, Texas. A report of 112 cases. Medicine (Baltimore) (1994) 2.05
Quality of life is predictive of survival in patients with unresectable hepatocellular carcinoma. Ann Oncol (2006) 2.04
Apolipoprotein E genotype: utility in clinical practice in Alzheimer's disease. J Am Geriatr Soc (1996) 2.03
HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet (2003) 2.02
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Genetic studies of autistic disorder and chromosome 7. Genomics (1999) 1.94
Relative abundance of Alzheimer A beta amyloid peptide variants in Alzheimer disease and normal aging. Proc Natl Acad Sci U S A (1994) 1.91
Fast drop movements resulting from the phase change on a gradient surface. Science (2001) 1.90
Modified sutureless sclerotomies in pars plana vitrectomy. Am J Ophthalmol (1999) 1.89
Genome-wide association study of Alzheimer's disease. Transl Psychiatry (2012) 1.88
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet (1992) 1.87
Crystal structure of the macrocycle-forming thioesterase domain of the erythromycin polyketide synthase: versatility from a unique substrate channel. Proc Natl Acad Sci U S A (2001) 1.80
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell (1992) 1.80
Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet (1999) 1.78
Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet (2000) 1.78
Transforming growth factor beta stabilizes p15INK4B protein, increases p15INK4B-cdk4 complexes, and inhibits cyclin D1-cdk4 association in human mammary epithelial cells. Mol Cell Biol (1997) 1.75
Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol (2000) 1.74
Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease. Proc Natl Acad Sci U S A (1994) 1.74
Clinical application of apolipoprotein E genotyping to Alzheimer's disease. Lancet (1994) 1.71
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants. Oncogene (2003) 1.67
Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol (1996) 1.67
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology (2000) 1.67
Choroidal perfusion abnormality with age-related Bruch's membrane change. Am J Ophthalmol (1990) 1.66