Published in Blood on December 01, 1979
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest (1980) 2.38
Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proc Natl Acad Sci U S A (1980) 1.80
The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21
Is the doubly deleted alpha-thalassemia gene a "fugitive" allele? Am J Hum Genet (1981) 1.13
An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest (1987) 0.88
Genetic and molecular diversity in nondeletion Hb H disease. Proc Natl Acad Sci U S A (1981) 0.86
Phenotype-genotype correlation in haemoglobin H disease in childhood. J Med Genet (1983) 0.83
Haemoglobin Bart's hydrops syndrome in Greece. Br Med J (1980) 0.80
alpha-Thalassaemia in Sardinian infants. J Med Genet (1980) 0.75
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
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell (1985) 7.45
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
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet (1978) 6.19
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res (1987) 5.46
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
Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice. Nature (1990) 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
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
Evolution of the hemoglobin S and C genes in world populations. Science (1980) 4.24
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
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Human fetal to adult hemoglobin switching: changes in chromatin structure of the beta-globin gene locus. Proc Natl Acad Sci U S A (1983) 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
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
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
Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature (1974) 3.58
Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. Proc Natl Acad Sci U S A (1993) 3.39
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
Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A (1968) 3.05
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97
Quantification of DNaseI-sensitivity by real-time PCR: quantitative analysis of DNaseI-hypersensitivity of the mouse beta-globin LCR. J Mol Biol (2001) 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
Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med (1983) 2.78
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
Detection of specific DNA sequences by fluorescence amplification: a color complementation assay. Proc Natl Acad Sci U S A (1989) 2.67
Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood (1999) 2.66
Construction of a functional human suppressor tRNA gene: an approach to gene therapy for beta-thalassaemia. Nature (1982) 2.65
Efficient gene transfer into human CD34(+) cells by a retargeted adenovirus vector. J Virol (2000) 2.63
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
Globin chain synthesis in the alpha thalassemia syndromes. J Clin Invest (1969) 2.46
Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human beta-globin locus display proper developmental control of human globin genes. Proc Natl Acad Sci U S A (1993) 2.46
Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet (1996) 2.45
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature (1975) 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
Hemoglobin F synthesis in vitro: evidence for control at the level of primitive erythroid stem cells. Proc Natl Acad Sci U S A (1977) 2.43
G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. Nature (1985) 2.41
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
beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest (1981) 2.30
alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature (1979) 2.25
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
Prevention of thalassaemia in Cyprus. Lancet (1981) 2.13
Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization. N Engl J Med (1976) 2.10
The human beta-globin locus activation region alters the developmental fate of a human fetal globin gene in transgenic mice. Proc Natl Acad Sci U S A (1989) 2.09
Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr (1968) 2.07
F-cells in the adult: normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood (1975) 2.06
In vivo protein-DNA interactions at the beta-globin gene locus. Proc Natl Acad Sci U S A (1991) 2.05
Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children. Lancet (1994) 2.01
Cellular regulation of hemoglobin switching: evidence for inverse relationship between fetal hemoglobin synthesis and degree of maturity of human erythroid cells. Proc Natl Acad Sci U S A (1979) 2.00
A chromatin insulator protects retrovirus vectors from chromosomal position effects. Proc Natl Acad Sci U S A (2000) 1.97
Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice. EMBO J (1998) 1.97
Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci. Nature (1975) 1.95
Autonomous developmental control of human embryonic globin gene switching in transgenic mice. Science (1990) 1.94
A rapid screening test for antenatal sex determination. Lancet (1984) 1.92
Isolation of cDNA encoding the human NF-E2 protein. Proc Natl Acad Sci U S A (1993) 1.91
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med (1985) 1.91
An atlas-based method to compensate for brain shift: preliminary results. Med Image Anal (2007) 1.91
Effect of phosphorus availability on basal root shallowness in common bean. Plant Soil (2001) 1.89
Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human beta-globin locus in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.88
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. J Clin Invest (1985) 1.85
Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med (1982) 1.85
Dissection of the enhancer activity of beta-globin 5' DNase I-hypersensitive site 2 in transgenic mice. Proc Natl Acad Sci U S A (1992) 1.84
Construction of human chromosome 21-specific yeast artificial chromosomes. Proc Natl Acad Sci U S A (1989) 1.83
High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science (1984) 1.80
Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia. Experience with 24 cases. Lancet (1977) 1.77
Comparative chromosome mapping of a conserved homoeo box region in mouse and human. Nature (1985) 1.77