Published in N Engl J Med on August 04, 1983
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci U S A (1989) 13.66
Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci U S A (1989) 7.79
Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs. Nucleic Acids Res (1987) 3.05
Detection of specific DNA sequences by fluorescence amplification: a color complementation assay. Proc Natl Acad Sci U S A (1989) 2.67
Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. J Clin Invest (1986) 1.47
Prenatal diagnosis of the common haemoglobin disorders. J Med Genet (1985) 1.28
The prevention of thalassemia. Cold Spring Harb Perspect Med (2013) 1.25
Detection of single base changes in nucleic acids. Biochem J (1989) 1.05
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am J Hum Genet (1990) 1.04
Direct detection of usual and atypical alleles on the human aldehyde dehydrogenase-2 (ALDH2) locus. Am J Hum Genet (1987) 1.04
Beta thalassaemia mutations in the Turkish population. J Med Genet (1987) 0.96
Distribution of beta-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet (1987) 0.96
Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease. Am J Hum Genet (1987) 0.93
Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis. J Med Genet (1987) 0.93
The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. Proc Natl Acad Sci U S A (1987) 0.92
The William Allan Memorial Award address: Thalassemia: molecular mechanism and detection. Am J Hum Genet (1986) 0.91
BamH I polymorphism in the Chinese: its potential usefulness in prenatal diagnosis of beta thalassaemia. Br Med J (Clin Res Ed) (1984) 0.91
Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes. Am J Hum Genet (1985) 0.84
Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA. J Med Genet (1989) 0.84
Osmotic fragility test in heterozygotes for alpha and beta thalassaemia. J Med Genet (1985) 0.78
Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies. Mediterr J Hematol Infect Dis (2009) 0.77
Genetic differences among ethnic groups. BMC Genomics (2015) 0.76
beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis. J Med Genet (1985) 0.76
Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations. J Med Genet (1988) 0.75
Beta thalassaemia mutations in Turkish Cypriots. J Med Genet (1988) 0.75
The molecular basis of beta thalassaemia in Bulgaria. J Med Genet (1989) 0.75
Pregnancy in women with thalassemia: challenges and solutions. Int J Womens Health (2016) 0.75
Pitfalls in prenatal diagnosis of beta thalassaemia. J Med Genet (1986) 0.75
Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA. J Med Genet (1990) 0.75
Towards a medical eugenics? Br Med J (Clin Res Ed) (1984) 0.75
A short physical performance battery assessing lower extremity function: association with self-reported disability and prediction of mortality and nursing home admission. J Gerontol (1994) 30.72
Lower-extremity function in persons over the age of 70 years as a predictor of subsequent disability. N Engl J Med (1995) 20.53
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54
Lower extremity function and subsequent disability: consistency across studies, predictive models, and value of gait speed alone compared with the short physical performance battery. J Gerontol A Biol Sci Med Sci (2000) 15.54
Hybridization of synthetic oligodeoxyribonucleotides to phi chi 174 DNA: the effect of single base pair mismatch. Nucleic Acids Res (1979) 14.12
Prevalence of dementia in the United States: the aging, demographics, and memory study. Neuroepidemiology (2007) 12.42
The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA. Nucleic Acids Res (1981) 9.56
Simultaneous analysis of multiple polymorphic loci using amplified sequence polymorphisms (ASPs). Genomics (1988) 8.29
Calcium-channel blockade and incidence of cancer in aged populations. Lancet (1996) 8.04
Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci U S A (1983) 7.52
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell (1985) 7.45
Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta 2-microglobulin. Proc Natl Acad Sci U S A (1981) 7.24
Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic leucine zipper transcriptional activator that binds to the tandem NF-E2/AP1 repeat of the beta-globin locus control region. Proc Natl Acad Sci U S A (1994) 6.72
Directed deletion of a yeast transfer RNA intervening sequence. Science (1980) 6.67
Sleep complaints among elderly persons: an epidemiologic study of three communities. Sleep (1995) 6.42
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet (1978) 6.19
Drug data coding and analysis in epidemiologic studies. Eur J Epidemiol (1994) 6.08
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci U S A (1989) 5.30
The rat serum albumin gene: analysis of cloned sequences. Proc Natl Acad Sci U S A (1979) 5.17
A set of synthetic oligodeoxyribonucleotide primers for DNA sequencing in the plasmid vector pBR322. Gene (1981) 5.06
A revised CES-D measure of depressive symptoms and a DSM-based measure of major depressive episodes in the elderly. Int Psychogeriatr (1999) 5.05
Measures of cognitive functioning in the AHEAD Study. J Gerontol B Psychol Sci Soc Sci (1997) 4.97
National estimates of the quantity and cost of informal caregiving for the elderly with dementia. J Gen Intern Med (2001) 4.69
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet (1996) 4.62
beta 0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci U S A (1979) 4.58
Synthesis and use of synthetic oligonucleotides. Annu Rev Biochem (1984) 4.53
An important function of Nrf2 in combating oxidative stress: detoxification of acetaminophen. Proc Natl Acad Sci U S A (2001) 4.49
NRF2, a member of the NFE2 family of transcription factors, is not essential for murine erythropoiesis, growth, and development. Proc Natl Acad Sci U S A (1996) 4.41
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature (1983) 4.38
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med (1993) 4.36
Rapid duplication and loss of genes coding for the alpha chains of hemoglobin. Proc Natl Acad Sci U S A (1980) 4.33
Chronically depressed mood and cancer risk in older persons. J Natl Cancer Inst (1998) 4.27
Evolution of the hemoglobin S and C genes in world populations. Science (1980) 4.24
Asset and Health Dynamics Among the Oldest Old: an overview of the AHEAD Study. J Gerontol B Psychol Sci Soc Sci (1997) 4.15
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Depressive symptoms and physical decline in community-dwelling older persons. JAMA (1998) 4.05
Analysis of DNA extracted from formalin-fixed, paraffin-embedded tissues by enzymatic amplification and hybridization with sequence-specific oligonucleotides. Biochem Biophys Res Commun (1987) 4.05
Tissue-specific targeting of retroviral vectors through ligand-receptor interactions. Science (1994) 3.97
Detection of sickle cell anaemia and thalassaemias. Nature (1987) 3.94
Oligonucleotide directed mutagenesis of the human beta-globin gene: a general method for producing specific point mutations in cloned DNA. Nucleic Acids Res (1981) 3.87
Identification of a nondeletion defect in alpha-thalassemia. N Engl J Med (1977) 3.86
Nrf2 is essential for protection against acute pulmonary injury in mice. Proc Natl Acad Sci U S A (1999) 3.79
Maintaining mobility in late life. I. Demographic characteristics and chronic conditions. Am J Epidemiol (1993) 3.74
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med (1980) 3.72
Cloning and expression in Escherichia coli of the gene for human tumour necrosis factor. Nature (1985) 3.59
Complete repair of transposition of the great arteries with pulmonary stenosis. A review and report of a case corrected by using a new surgical technique. Circulation (1969) 3.58
Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature (1974) 3.58
Cardiovascular mortality and noncontraceptive use of estrogen in women: results from the Lipid Research Clinics Program Follow-up Study. Circulation (1987) 3.49
Established populations for epidemiologic studies of the elderly: study design and methodology. Aging (Milano) (1993) 3.47
Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. Proc Natl Acad Sci U S A (1993) 3.39
Population choice in mapping genes for complex diseases. Nat Genet (1999) 3.36
Molecular cloning of protein 4.1, a major structural element of the human erythrocyte membrane skeleton. Proc Natl Acad Sci U S A (1986) 3.22
Maintaining mobility in late life. II. Smoking, alcohol consumption, physical activity, and body mass index. Am J Epidemiol (1993) 3.05
Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs. Nucleic Acids Res (1987) 3.05
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97
Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site. Proc Natl Acad Sci U S A (1989) 2.92
A sensitive new prenatal test for sickle-cell anemia. N Engl J Med (1982) 2.91
Smoking and mortality among older men and women in three communities. N Engl J Med (1991) 2.86
Anglo-American contrasts in general practice. Br Med J (1976) 2.76
The nucleotide sequences of the untranslated 5' regions of human alpha- and beta-globin mRNAs. Proc Natl Acad Sci U S A (1977) 2.75
Specificity of the nick-closing activity of bacteriophage T4 DNA ligase. Gene (1989) 2.73
Detection of specific DNA sequences by fluorescence amplification: a color complementation assay. Proc Natl Acad Sci U S A (1989) 2.67
Construction of a functional human suppressor tRNA gene: an approach to gene therapy for beta-thalassaemia. Nature (1982) 2.65
Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A (1980) 2.62
Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61
Oligonucleotide probes for the screening of recombinant DNA libraries. Methods Enzymol (1987) 2.58
Estrogen use and all-cause mortality. Preliminary results from the Lipid Research Clinics Program Follow-Up Study. JAMA (1983) 2.57
Variations in the reporting of menstrual histories. Am J Epidemiol (1979) 2.48
Globin chain synthesis in the alpha thalassemia syndromes. J Clin Invest (1969) 2.46
HDL cholesterol predicts coronary heart disease mortality in older persons. JAMA (1995) 2.46
Diet and risk of non-Hodgkin lymphoma in older women. JAMA (1996) 2.46
Persistent, consistent, widespread, and robust? Another look at recent trends in old-age disability. J Gerontol B Psychol Sci Soc Sci (2001) 2.45
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature (1975) 2.45
Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet (1996) 2.45
Synergistic enhancement of globin gene expression by activator protein-1-like proteins. Proc Natl Acad Sci U S A (1990) 2.45
Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA. Proc Natl Acad Sci U S A (1985) 2.44
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest (1980) 2.38
Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. J Clin Invest (1979) 2.37
Health status of older male prisoners: a comprehensive survey. Am J Public Health (1992) 2.34
Incidence and remission of insomnia among elderly adults: an epidemiologic study of 6,800 persons over three years. Sleep (1999) 2.32
beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest (1981) 2.30
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet (1993) 2.29
alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature (1979) 2.25
Changes in driving patterns and worsening depressive symptoms among older adults. J Gerontol B Psychol Sci Soc Sci (2001) 2.24
Biotin-labeled oligonucleotides: enzymatic synthesis and use as hybridization probes. DNA (1984) 2.23
Transfusion-associated graft-versus-host disease in immunocompetent patients: report of a fatal case associated with transfusion of blood from a second-degree relative, and a survey of predisposing factors. Transfusion (1993) 2.22
Tissue-culture assay of antibodies to heat-liable Escherichia coli enterotoxins. N Engl J Med (1974) 2.20
Isolation of a cDNA clone for the murine transplantation antigen H-2Kb. Proc Natl Acad Sci U S A (1982) 2.20
The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation. Genomics (1989) 2.19
Versatile cosmid vectors for the isolation, expression, and rescue of gene sequences: studies with the human alpha-globin gene cluster. Proc Natl Acad Sci U S A (1983) 2.14
Morbidity and disability in older persons in the years prior to death. Am J Public Health (1991) 2.13
Self-reported adverse drug reactions and related resource use. A study of community-dwelling persons 65 years of age and older. Ann Intern Med (1992) 2.12
Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization. N Engl J Med (1976) 2.10
In vivo protein-DNA interactions at the beta-globin gene locus. Proc Natl Acad Sci U S A (1991) 2.05