Published in J Med Genet on June 01, 1989
Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet (1990) 1.75
Options for prenatal testing for Huntington's disease using linked DNA probes. J Med Genet (1990) 1.39
Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. Am J Hum Genet (1990) 1.20
Huntington's disease and the ethics of genetic prediction. J Med Ethics (1992) 1.15
Exclusion testing in pregnancy for Huntington's disease. J Med Genet (1990) 0.82
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82
Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet (1988) 2.28
Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet (1987) 2.09
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet (1988) 1.39
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med (1992) 5.51
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (2001) 5.28
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
The association of social relationships and activities with mortality: prospective evidence from the Tecumseh Community Health Study. Am J Epidemiol (1982) 4.42
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
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
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08
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
Environment and vulnerability to major psychiatric illness: a case control study of early parental loss in major depression, bipolar disorder and schizophrenia. Mol Psychiatry (1999) 2.80
Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther (2013) 2.70
A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet (1999) 2.60
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet (1992) 2.39
Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther (2008) 2.31
Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet (1988) 2.28
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
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res (1998) 2.17
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 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
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet (1999) 2.02
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest (2000) 1.98
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95
Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci (2000) 1.92
Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice. Diabetologia (2010) 1.87
The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol (1998) 1.87
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82
Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol Chem (2000) 1.79
Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Differ (1998) 1.76
NMDA receptor function in mouse models of Huntington disease. J Neurosci Res (2001) 1.76
Cerebral effects of rewarming following prolonged hypothermia: significance for the management of severe cranio-cerebral injury and acute pyrexia. Brain (1967) 1.75
Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet (1990) 1.75
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation (2001) 1.71
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
What women want - quantifying the perception of hair amount: an analysis of hair diameter and density changes with age in caucasian women. Br J Dermatol (2012) 1.69
Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem (1999) 1.66
Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer (2013) 1.65
Lipoprotein lipase activity is associated with severity of angina pectoris. REGRESS Study Group. Circulation (2000) 1.65
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res (2001) 1.62
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet (1987) 1.61
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J (2011) 1.60
Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. Am J Med Genet (1993) 1.59
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58
Sex differences in psychosocial consequences of alcohol and drug abuse. J Health Soc Behav (1989) 1.57
Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry (2012) 1.57
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet (1995) 1.55
HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. J Biol Chem (2001) 1.54
Rilpivirine versus efavirenz in HIV-1-infected subjects receiving emtricitabine/tenofovir DF: pooled 96-week data from ECHO and THRIVE Studies. HIV Clin Trials (2013) 1.53
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci U S A (2001) 1.51
Lipid infusion in the management of poisoning: a report of 6 canine cases. Vet Rec (2013) 1.51
National standard for measurement of resting and ambulatory blood pressures with automated sphygmomanometers. Hypertension (1993) 1.50
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem (1996) 1.47
Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum Genet (1991) 1.46
Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet (1989) 1.46
Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits. Clin Pharmacol Ther (2010) 1.44
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ (2004) 1.44
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet (1995) 1.43
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics (1987) 1.42
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41
Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet. Clin Genet (1989) 1.41
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet (2001) 1.39
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39
George Huntington: the man behind the eponym. J Med Genet (1993) 1.39
[Circumcision for boys incapable of giving informed consent]. Urologe A (2009) 1.39
Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet (2000) 1.38
Studies on the mechanism of corticosteroid-induced lymphocytolysis. Cancer Res (1973) 1.34
Positron emission tomography in the early diagnosis of Huntington's disease. Neurology (1986) 1.33
Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hyperlipidaemic individuals. Atherosclerosis (1987) 1.32
Relationship of resting brain hyperconnectivity and schizophrenia-like symptoms produced by the NMDA receptor antagonist ketamine in humans. Mol Psychiatry (2013) 1.31
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet (2006) 1.29
Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1. J Biol Chem (2001) 1.28
Post-transcriptional regulation of extracellular matrix metalloproteinase in human heart end-stage failure secondary to ischemic cardiomyopathy. J Mol Cell Cardiol (1996) 1.27
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet (2003) 1.26
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet (2001) 1.26
Social perspectives in Huntington's chorea. S Afr Med J (1980) 1.26
Pathways to adolescent drug use: self-derogation, peer influence, weakening of social controls, and early substance use. J Health Soc Behav (1984) 1.25