Published in Cell on March 01, 1976
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A (1978) 6.46
Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res (1978) 5.99
Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res (1979) 4.55
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A (1983) 2.56
beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest (1981) 2.30
Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A (1979) 1.94
Nucleotide sequence of 3' untranslated portion of human alpha globin mRNA. Nucleic Acids Res (1977) 1.92
The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21
Inheritance of F cell frequency in heterocellular hereditary persistence of fetal hemoglobin: an example of allelic exclusion. Am J Hum Genet (1977) 1.06
Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. J Clin Invest (1979) 1.05
Quantitation of human gamma globin genes and gamma globin mRNA with purified gamma globin complementary DNA. J Clin Invest (1976) 0.97
Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J Clin Invest (1979) 0.92
G gamma delta beta thalassaemia and g gamma HPFH (Hb Kenya type): comparison of 2 new cases. J Med Genet (1977) 0.85
G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C. J Med Genet (1979) 0.81
Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant. Am J Hum Genet (1983) 0.79
Thalassemic hemoglobinopathies. Am J Pathol (1983) 0.76
The structure and evolution of the human beta-globin gene family. Cell (1980) 21.24
High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science (1990) 10.72
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
DNA diagnostics--molecular techniques and automation. Science (1988) 8.85
A radioimmunoassay using a monoclonal antibody to monitor the course of epithelial ovarian cancer. N Engl J Med (1983) 8.82
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A (1989) 8.68
WT-1 is required for early kidney development. Cell (1993) 7.05
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Reactivity of a monoclonal antibody with human ovarian carcinoma. J Clin Invest (1981) 6.89
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci U S A (1984) 6.48
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics (1992) 6.40
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet (1991) 6.20
Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res (1978) 5.99
Automated DNA sequencing of the human HPRT locus. Genomics (1990) 5.92
Synthesis of and chains of rabbit hemoglobin in a cell-free extract from Krebs II ascites cells. Proc Natl Acad Sci U S A (1971) 5.92
Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76
Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science (1988) 5.72
Mammalian multidrug resistance gene: complete cDNA sequence indicates strong homology to bacterial transport proteins. Cell (1986) 5.51
Construction of plasmids that express E. coli beta-galactosidase in mammalian cells. Nucleic Acids Res (1989) 5.02
Identification of the gene responsible for Best macular dystrophy. Nat Genet (1998) 4.89
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature (1993) 4.87
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res (1996) 4.75
Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res (1979) 4.55
Short interspersed repetitive DNA elements in eucaryotes: transposable DNA elements generated by reverse transcription of RNA pol III transcripts? Cell (1981) 4.37
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med (1978) 4.34
Two functionally distinct subpopulations of human T cells that collaborate in the generation of cytotoxic cells responsible for cell-mediated lympholysis. J Immunol (1978) 4.33
DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet (1992) 4.22
Studies on the heterogeneity of hemoglobin. IX. The use of Tris(hydroxymethyl)aminomethanehcl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr (1965) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol (1995) 4.04
Initiation of haemoglobin synthesis by methionyl-tRNA. Nature (1970) 3.99
Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2. Proc Natl Acad Sci U S A (1985) 3.94
A monoclonal antibody to human acute lymphoblastic leukaemia antigen. Nature (1980) 3.90
RNA polymerase III transcriptional units are interspersed among human non-alpha-globin genes. Proc Natl Acad Sci U S A (1979) 3.78
Expression of peptide chain release factor 2 requires high-efficiency frameshift. Nature (1986) 3.60
Characterization of the human cysteinyl leukotriene CysLT1 receptor. Nature (1999) 3.57
Human beta-globin messenger RNA. III. Nucleotide sequences derived from complementary DNA. J Biol Chem (1977) 3.55
Initiation of hemoglobin synthesis. Specific inhibition by antibiotics and bacteriophage ribonucleic acid. Biochemistry (1971) 3.50
Nucleotide sequence of KB cell 5S RNA. Science (1967) 3.40
Complete nucleotide sequence of the human delta-globin gene. Cell (1980) 3.34
Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells. Proc Natl Acad Sci U S A (1999) 3.33
The candidate Wilms' tumour gene is involved in genitourinary development. Nature (1990) 3.13
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis (1994) 3.12
RNA of low molecular weight in KB cells infected with adenovirus type 2. J Mol Biol (1966) 3.09
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
Disease diagnosis by recombinant DNA methods. Science (1987) 3.06
Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A (1979) 3.05
Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A (1968) 3.05
Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants. Nucleic Acids Res (1982) 3.00
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A (1989) 2.97
Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis. Cell (1976) 2.88
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics (1990) 2.84
Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet (1984) 2.84
Ganglioside GD2 specific monoclonal antibody 3F8: a phase I study in patients with neuroblastoma and malignant melanoma. J Clin Oncol (1987) 2.81
Histochemical staining of clonal mammalian cell lines expressing E. coli beta galactosidase indicates heterogeneous expression of the bacterial gene. Somat Cell Mol Genet (1987) 2.77
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase. Genetics (1972) 2.71
Molecular evolution of human and rabbit beta-globin mRNAs. Proc Natl Acad Sci U S A (1977) 2.70
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. Proc Natl Acad Sci U S A (1982) 2.62
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A (1981) 2.58
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A (1983) 2.56
Abnormally spliced messenger RNA in erythroid cells from patients with beta+ thalassemia and monkey cells expressing a cloned beta+-thalassemic gene. Cell (1982) 2.52
A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. Proc Natl Acad Sci U S A (1996) 2.52
Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules. Proc Natl Acad Sci U S A (1998) 2.50
The HPRT locus. Cell (1979) 2.49
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet (1996) 2.46
The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell (1979) 2.41
DNA sequence variation associated with elevated fetal G gamma globin production. Blood (1985) 2.41
Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes. Proc Natl Acad Sci U S A (1973) 2.40
Two independent mutational events in the loss of urate oxidase during hominoid evolution. J Mol Evol (1992) 2.35
Detection, isolation, and functional characterization of two human T-cell subclasses bearing unique differentiation antigens. J Exp Med (1977) 2.34
Human erythroid burst-forming unit: T-cell requirement for proliferation in vitro. J Exp Med (1978) 2.33
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature (1985) 2.33
A fine-structure deletion map of human chromosome 11p: analysis of J1 series hybrids. Somat Cell Mol Genet (1989) 2.29
PCR test for cystic fibrosis deletion. Nature (1990) 2.26
Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia? Blood (1984) 2.24
An examination of conditions for the cleavage of polypeptide chains with cyanogen bromide: application to catalase. Arch Biochem Biophys (1969) 2.23
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet (1996) 2.23
Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev (1991) 2.20
Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon. Blood (1984) 2.20
Sequential translation of trinucleotide codons for the initiation and termination of protein synthesis. Science (1968) 2.20
Reverse transcription and direct amplification of cellular RNA transcripts by Taq polymerase. Gene (1990) 2.18
An economic evaluation of a genetic screening program for Tay-Sachs disease. Am J Hum Genet (1978) 2.17
Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet (1994) 2.15
Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res (1989) 2.14
Deletion and amplification of the HGPRT locus in Chinese hamster cells. Mol Cell Biol (1983) 2.10
The molecular basis of the sparse fur mouse mutation. Science (1987) 2.09
Nucleotide sequence of the coding portion of human alpha globin messenger RNA. J Biol Chem (1980) 2.07
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature (1984) 2.07
Fine structure of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol (1986) 2.07
Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr (1968) 2.07
A new N-terminal blocking group involving a Schiff base in hemoglobin AIc. Biochemistry (1966) 2.06
Cloning and characterization of a second member of the mouse mdr gene family. Mol Cell Biol (1988) 2.06
The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen. Genomics (1991) 2.03
MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). Proc Natl Acad Sci U S A (1997) 2.01
RNA codons and protein synthesis. 15. Dissimilar responses of mammalian and bacterial transfer RNA fractions to messenger RNA codons. J Mol Biol (1968) 2.00
Globin chain electrophoresis: a new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol (1980) 1.99