Published in Proc Natl Acad Sci U S A on October 01, 1981
Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A (1989) 2.49
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
Localization of the gene encoding human erythroid-potentiating activity to chromosome region Xp11.1----Xp11.4. Am J Hum Genet (1986) 1.84
Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proc Natl Acad Sci U S A (1982) 1.83
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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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Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization. Am J Hum Genet (1983) 0.85
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Animal models of Kennedy disease. NeuroRx (2005) 0.77
Pituitary androgen receptor signalling regulates prolactin but not gonadotrophins in the male mouse. PLoS One (2015) 0.76
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Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblasts. J Clin Invest (1985) 0.75
Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. Iran J Public Health (2016) 0.75
Carrier detection in the testicular feminisation syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity. J Med Genet (1984) 0.75
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Ancient linkage groups and frozen accidents. Nature (1973) 3.57
X-linked gene for testicular feminization in the mouse. Nature (1970) 3.19
Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in mgh-mouse and man--Chinese hamster somatic cell hybrids. Arch Biochem Biophys (1971) 3.15
DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A (1979) 3.02
Statistical quality control of radioimmunoassays. J Clin Endocrinol Metab (1968) 2.41
Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A (1975) 2.30
Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain. Somatic Cell Genet (1976) 1.98
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet (1981) 1.97
Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab (1974) 1.63
Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci U S A (1980) 1.52
Cytosol androgen receptor from kidney of normal and testicular feminized (Tfm) mice. Cell (1974) 1.47
Androgen insensitivity in man: evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1976) 1.36
An inherited X-autosome translocation in man. Ann Hum Genet (1971) 1.30
Effect of intercellular communication on the selection of intraspecific human hybrids in HAT and ouabain. Somatic Cell Genet (1978) 1.15
Cultured human skin fibroblasts: a model for the study of androgen action. Mol Cell Biochem (1981) 1.11
Cytological identification of the chromosomes involved in Searle's translocation and the location of the centromere in the X chromosome of the mouse. Genetics (1972) 1.04
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40. Humangenetik (1975) 1.04
The X chromosomes of mammals: karylogical homology as revealed by banding techniques. Genetics (1974) 0.92
NMR chemical shift imaging in three dimensions. Proc Natl Acad Sci U S A (1982) 4.95
Derivation of pluripotent stem cells from cultured human primordial germ cells. Proc Natl Acad Sci U S A (1998) 4.92
Endocrine-disrupting chemicals and public health protection: a statement of principles from The Endocrine Society. Endocrinology (2012) 3.98
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
Cellular applications of 31P and 13C nuclear magnetic resonance. Science (1979) 3.14
DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A (1979) 3.02
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A (1981) 2.83
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science (1968) 2.69
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci U S A (1980) 2.48
Studies of X chromosome DNA methylation in normal human cells. Nature (1982) 2.34
Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A (1975) 2.30
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci U S A (1989) 2.28
Phosphorus nuclear magnetic resonance of fast- and slow-twitch muscle. Am J Physiol (1985) 2.21
Phosphorus-31 nuclear magnetic resonance studies of the effect of oxygen upon glycolysis in yeast. Biochemistry (1981) 2.17
D-valine as a selective agent for normal human and rodent epithelial cells in culture. Cell (1975) 2.05
Dose comparison trial of sustained-release fampridine in multiple sclerosis. Neurology (2008) 2.04
Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome. Chromosoma (1985) 2.04
Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes. Nature (1985) 1.96
Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome. Cell (1980) 1.96
Human-mouse somatic cell hybrids with single human chromosome (group E): link with thymidine kinase activity. Science (1968) 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
31P nuclear magnetic resonance measurements of ATPase kinetics in aerobic Escherichia coli cells. Proc Natl Acad Sci U S A (1977) 1.86
Regulation of oxygen consumption in fast- and slow-twitch muscle. Am J Physiol (1992) 1.81
Spatio-temporal analysis of molecular delivery through the blood-brain barrier using focused ultrasound. Phys Med Biol (2007) 1.81
High-resolution 13C nuclear magnetic resonance studies of glucose metabolism in Escherichia coli. Proc Natl Acad Sci U S A (1978) 1.79
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
Thyroid dysfunction in adults over age 55 years. A study in an urban US community. Arch Intern Med (1990) 1.67
Human embryonic germ cell derivatives express a broad range of developmentally distinct markers and proliferate extensively in vitro. Proc Natl Acad Sci U S A (2001) 1.67
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
Effect of ageing on reactivation of the human X-linked HPRT locus. Nature (1988) 1.55
13C nuclear magnetic resonance studies of anaerobic glycolysis in suspensions of yeast cells. Proc Natl Acad Sci U S A (1979) 1.55
Mechanism of origin of complete hydatidiform moles. Nature (1980) 1.55
The activity of creatine kinase in frog skeletal muscle studied by saturation-transfer nuclear magnetic resonance. Biochem J (1981) 1.53
Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci U S A (1985) 1.53
Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab (1986) 1.52
Cortisol production rate. II. Normal infants, children, and adults. Pediatrics (1966) 1.52
Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet (1980) 1.51
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
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab (2000) 1.44
31P NMR spectroscopy, chemical analysis, and free Mg2+ of rabbit bladder and uterine smooth muscle. J Biol Chem (1986) 1.43
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
Human and mouse hypoxanthine-guanine phosphoribosyltransferase: dimers and tetramers. Science (1979) 1.42
Use of time clocks for employees in health-care institutions. Am J Hosp Pharm (1990) 1.41
Stability of X chromosomal inactivation in human somatic cells. Nature (1972) 1.38
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells. Science (1971) 1.37
Genetic analysis of familial isolated growth hormone deficiency type I. J Clin Invest (1982) 1.36
Androgen insensitivity in man: evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1976) 1.36
Retinoblastoma protein disrupts interactions required for RNA polymerase III transcription. Mol Cell Biol (2000) 1.34
P nuclear magnetic resonance studies of isolated rat liver cells. Nature (1978) 1.34
A fast, reliable, automatic shimming procedure using 1H chemical-shift-imaging spectroscopy. J Magn Reson B (1995) 1.33
Evidence for the inactivation of an X chromosome early in the development of the human female. Am J Hum Genet (1975) 1.32
A new method for spectral decomposition using a bilinear Bayesian approach. J Magn Reson (1999) 1.32
Short arm deletions in group E and chromosomal "deletion" syndromes. J Pediatr (1966) 1.31
Haptoglobin: a locus on the D1 chromosome? Am J Hum Genet (1967) 1.30
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
Subclinical cerebrovascular disease in mild cognitive impairment. Neurology (2009) 1.28
Androgen receptor gene mutations in human prostate cancer. Proc Natl Acad Sci U S A (1992) 1.28
Application of 31P-NMR spectroscopy to the study of striated muscle metabolism. Am J Physiol (1982) 1.26
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med (1987) 1.26
Proton magnetic resonance spectroscopy in patients with glial tumors: a multicenter study. J Neurosurg (1996) 1.24
Identification of fructose 3-phosphate in the lens of diabetic rats. Science (1990) 1.24
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
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
Attitudes of adult 46, XY intersex persons to clinical management policies. J Urol (2004) 1.22
Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. Nature (1974) 1.22
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
McCune-Albright syndrome. Long-term follow-up. JAMA (1986) 1.21
Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet (1989) 1.21
Updating of the treatment of congenital adrenal hyperplasia. J Pediatr (1968) 1.18
Isolation and analysis of somatic hybrids derived from two human diploid cells. Proc Natl Acad Sci U S A (1974) 1.18
Adrenal function during the use of dexamethasone aerosols in the treatment of ragweed hay fever. J Allergy (1967) 1.18
A comparative study of urinary 17-hydroxycorticosteroids, urinary free cortisol, and the integrated concentration of plasma cortisol. J Clin Endocrinol Metab (1980) 1.17
Asynchronous replication of homologous loci on human active and inactive X chromosomes. Proc Natl Acad Sci U S A (1990) 1.17
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium. Biochem Genet (1970) 1.16
Plasma aldosterone concentration in normal subjects from infancy to adulthood. J Clin Endocrinol Metab (1974) 1.16
Observation of inositol pentakis- and hexakis-phosphates in mammalian tissues by 31P NMR. Biochem Biophys Res Commun (1987) 1.15
The Barr body is a looped X chromosome formed by telomere association. Proc Natl Acad Sci U S A (1991) 1.15
Effect of intercellular communication on the selection of intraspecific human hybrids in HAT and ouabain. Somatic Cell Genet (1978) 1.15
NMR spectral quantitation by principal component analysis. NMR Biomed (2001) 1.14
Interferon production and action in mouse, hamster and somatic hybrid mouse-hamster cells. Science (1968) 1.13