Published in Am J Hum Genet on September 01, 1977
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Demonstration of the heterozygous state in Hunter's syndrome. Pediatrics (1974) 1.00
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Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A (1975) 2.30
The transport of lysosomal enzymes. J Supramol Struct (1977) 2.22
ATP utilization by rep protein in the catalytic separation of DNA strands at a replicating fork. J Biol Chem (1978) 2.20
An enzyme system for replication of duplex circular DNA: the replicative form of phage phi X174. Proc Natl Acad Sci U S A (1976) 2.16
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Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome. Chromosoma (1985) 2.04
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Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
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Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. Proc Natl Acad Sci U S A (1979) 1.97
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Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome. Cell (1980) 1.96
Purification of the rep protein of Escherichia coli. An ATPase which separates duplex DNA strands in advance of replication. J Biol Chem (1978) 1.94
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet (1990) 1.94
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Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol (1978) 1.89
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
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Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. Proc Natl Acad Sci U S A (1981) 1.81
Mental development of 201 ICSI children at 2 years of age. Lancet (1998) 1.79
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Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A (1999) 1.79
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Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat (2000) 1.75
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
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Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci (1971) 1.65
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Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells. Cell (1982) 1.62
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A (1982) 1.61
Formation of galactolipids by chloroplasts. Biochem Biophys Res Commun (1964) 1.61
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science (1970) 1.61
Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell Mol Genet (1990) 1.58
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif (1994) 1.55
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Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol Hum Reprod (2000) 1.55
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Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci U S A (1985) 1.53
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Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. EMBO J (1988) 1.50
Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod (2008) 1.49
Inhibition of receptor-mediated uptake of a lysosomal enzyme into fibroblasts by chloroquine, procaine and ammonia. Exp Cell Res (1979) 1.49
Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A (1994) 1.49
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Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med (1996) 1.48
Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Proc Natl Acad Sci U S A (1981) 1.48
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Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders. Hum Reprod (2005) 1.44
Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem (1981) 1.44
Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod (2004) 1.43
The Hurler corrective factor. Purification and some properties. J Biol Chem (1971) 1.43