Published in Proc Natl Acad Sci U S A on April 01, 1975
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Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet (1989) 1.22
Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet (1978) 1.20
Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation. Am J Hum Genet (1990) 1.19
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Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts. J Clin Invest (1979) 1.13
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Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts. J Clin Invest (1976) 1.08
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. Am J Hum Genet (1990) 1.06
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Characterization of a hormone receptor defect in the androgen-insensitivity mutant. Cell (1974) 1.18
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Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation. Proc Natl Acad Sci U S A (1984) 3.53
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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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Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome. Cell (1980) 1.96
Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation. Proc Natl Acad Sci U S A (1984) 1.86
A conformational change in Sindbis virus glycoproteins E1 and E2 is detected at the plasma membrane as a consequence of early virus-cell interaction. J Virol (1990) 1.81
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci U S A (1988) 1.76
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Corticotropin releasing factor induction of leukocyte-derived immunoreactive ACTH and endorphins. Nature (1986) 1.65
Characterization of Sindbis virus epitopes important for penetration in cell culture and pathogenesis in animals. Virology (1986) 1.64
Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab (1974) 1.63
Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells. Cell (1982) 1.62
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
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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
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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Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation. Nucleic Acids Res (1984) 1.42
Stability of X chromosomal inactivation in human somatic cells. Nature (1972) 1.38
Alternative forms of a strain-specific neutralizing antigenic site on the Sindbis virus E2 glycoprotein. Virology (1987) 1.38
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells. Science (1971) 1.37
Androgen insensitivity in man: evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1976) 1.36
Genetic analysis of familial isolated growth hormone deficiency type I. J Clin Invest (1982) 1.36
Virus-induced corticosterone in hypophysectomized mice: a possible lymphoid adrenal axis. Science (1982) 1.35
Evidence for the inactivation of an X chromosome early in the development of the human female. Am J Hum Genet (1975) 1.32
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Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet (1992) 1.30
Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids. J Clin Invest (1985) 1.29
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation. Am J Hum Genet (1971) 1.29
Codominant mixtures of viruses in reference strains of influenza virus due to host cell variation. Virology (1994) 1.28
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med (1987) 1.26
Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence for a qualitative abnormality of the receptor. J Clin Endocrinol Metab (1982) 1.24
Study of adrenal function in children with meningitis. Pediatrics (1967) 1.23
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Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia. J Clin Endocrinol Metab (1968) 1.22
DNA methylation stabilizes X chromosome inactivation in eutherians but not in marsupials: evidence for multistep maintenance of mammalian X dosage compensation. Proc Natl Acad Sci U S A (1987) 1.22
McCune-Albright syndrome. Long-term follow-up. JAMA (1986) 1.21
Isolation and analysis of somatic hybrids derived from two human diploid cells. Proc Natl Acad Sci U S A (1974) 1.18
Updating of the treatment of congenital adrenal hyperplasia. J Pediatr (1968) 1.18
Adrenal function during the use of dexamethasone aerosols in the treatment of ragweed hay fever. J Allergy (1967) 1.18
In vivo immunoreactive adrenocorticotropin (ACTH) production by human mononuclear leukocytes from normal and ACTH-deficient individuals. J Clin Endocrinol Metab (1987) 1.17
Asynchronous replication of homologous loci on human active and inactive X chromosomes. Proc Natl Acad Sci U S A (1990) 1.17
A comparative study of urinary 17-hydroxycorticosteroids, urinary free cortisol, and the integrated concentration of plasma cortisol. J Clin Endocrinol Metab (1980) 1.17
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
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Plasma aldosterone concentration in normal subjects from infancy to adulthood. J Clin Endocrinol Metab (1974) 1.16
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Health-care workers positive for hepatitis B surface antigen. Are their contacts at risk? N Engl J Med (1975) 1.15
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A new familial syndrome with ataxia, hearing loss, and mental retardation. Report of three brothers. Arch Neurol (1973) 1.13
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue-specific genes. EMBO J (1986) 1.13
The transplacental passage of prednisone and prednisolone in pregnancy near term. J Pediatr (1972) 1.12
Determination of testosterone and androst-4-ene-3, 17-dione concentration in human plasma. Steroids (1966) 1.12
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Cultured human skin fibroblasts: a model for the study of androgen action. Mol Cell Biochem (1981) 1.11
Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome. Ann Hum Genet (1984) 1.10
Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem (1987) 1.09
Testosterone, androstenedione and dehydroepiandrosterone in plasma during pregnancy and at delivery: concentration and protein binding. J Clin Endocrinol Metab (1968) 1.09
X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet (1977) 1.07
Quantitation of contact-feeding between somatic cells in culture. Exp Cell Res (1975) 1.07
Stability of the "two active X" phenotype in triploid somatic cells. Cell (1979) 1.07
The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab (1993) 1.07
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In search of non-random X inactivation: studies of fetal membranes heterozygous for glucose-6-phosphate dehydrogenase. Am J Hum Genet (1979) 1.06
The nature of thymidine kinase in the human-mouse hybrid cell. Biochem Genet (1969) 1.05
Glucocorticoid receptor in cultured human skin fibroblasts. J Steroid Biochem (1979) 1.05
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40. Humangenetik (1975) 1.04
Plasma concentration of testosterone, dihydrotestosterone, testosterone-oestradiol binding globulin, and pituitary gonadotrophins in the syndrome of male pseudo-hermaphroditism with testicular feminization. Acta Endocrinol (Copenh) (1972) 1.04
Percentage binding of testosterone, androstenedione and dehydroisoandrosterone in human plasma. Steroids (1968) 1.03
Complete reactivation of X chromosomes from human chorionic villi with a switch to early DNA replication. Proc Natl Acad Sci U S A (1986) 1.03
Comparison of gram stain, leukocyte esterase activity, and amniotic fluid glucose concentration in predicting amniotic fluid culture results in preterm premature rupture of membranes. Am J Obstet Gynecol (1992) 1.02
Implications for X-chromosome regulation from studies of human X-chromosome DNA. Cold Spring Harb Symp Quant Biol (1983) 1.02
Androgen receptor in human skin fibroblasts. Characterization of a specific 17beta-hydroxy-5alpha-androstan-3-one-protein complex in cell sonicates and nuclei. Steroids (1975) 1.01
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