Published in Proc Natl Acad Sci U S A on May 01, 1980
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
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
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
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
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet (1984) 2.58
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52
Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. Proc Natl Acad Sci U S A (1986) 1.50
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
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest (1987) 1.22
Asynchronous replication of homologous loci on human active and inactive X chromosomes. Proc Natl Acad Sci U S A (1990) 1.17
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. Am J Hum Genet (1985) 1.12
The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J (1985) 1.09
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
Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A (1985) 1.02
Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes. BMC Genet (2009) 0.95
Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26). Am J Hum Genet (1991) 0.89
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. Trans Am Ophthalmol Soc (1989) 0.88
A modified intraoral resin mouthguard to prevent self-mutilations in lesch-nyhan patients. Int J Dent (2014) 0.88
PharmGKB summary: very important pharmacogene information for G6PD. Pharmacogenet Genomics (2012) 0.86
Existence of glucose-6-phosphate dehydrogenase-like locus on chromosome 17. Am J Hum Genet (1986) 0.86
Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry. PLoS One (2007) 0.85
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif. Hum Mutat (2009) 0.83
Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase. Am J Hum Genet (1981) 0.82
Hyperexpression of HPRT induced by 5-azacytidine in mouse-human hybrid reactivants. Am J Hum Genet (1985) 0.82
Comparative map for mice and humans. Mamm Genome (1991) 0.81
Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein. Int J Mol Sci (2015) 0.79
Molecular diversity of glucose-6-phosphate dehydrogenase: rat enzyme structure identifies NH2-terminal segment, shows initiation from sites nonequivalent in different organisms, and establishes otherwise extensive sequence conservation. Proc Natl Acad Sci U S A (1988) 0.78
Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. Int J Mol Sci (2016) 0.78
Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World. Int J Mol Sci (2016) 0.77
Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase. Trans Am Ophthalmol Soc (1992) 0.77
The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed. Am J Hum Genet (1984) 0.77
Mapping genes to swine X chromosome provides reference loci for comparative mapping. Mamm Genome (1997) 0.76
Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq. Am J Hum Genet (1981) 0.75
A TaqI RFLP in the region of the HPRT locus. Nucleic Acids Res (1991) 0.75
High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1. Genome Res (1999) 0.75
The status of the gene map of the human chromosomes. Science (1977) 5.44
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
Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain. Somatic Cell Genet (1976) 1.98
Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation. J Cell Sci (1977) 1.77
X-autosome translocations: a review. Birth Defects Orig Artic Ser (1978) 1.57
Evidence for the inactivation of an X chromosome early in the development of the human female. Am J Hum Genet (1975) 1.32
Effect of intercellular communication on the selection of intraspecific human hybrids in HAT and ouabain. Somatic Cell Genet (1978) 1.15
4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet (1978) 1.03
Approaches to human linkage. Prog Med Genet (1979) 0.97
A summary of the human gene map, 1973-1977. Cytogenet Cell Genet (1978) 0.96
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
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
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
D-valine as a selective agent for normal human and rodent epithelial cells in culture. Cell (1975) 2.05
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
Human-mouse somatic cell hybrids with single human chromosome (group E): link with thymidine kinase activity. Science (1968) 1.96
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
Decline in prevalence of neural tube defects in a high-risk region of the United States. Pediatrics (2000) 1.85
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet (1999) 1.80
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
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
Cognitive, adaptive, and behavioral characteristics of Williams syndrome. Am J Med Genet (1997) 1.58
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
Mechanism of origin of complete hydatidiform moles. Nature (1980) 1.55
Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci U S A (1985) 1.53
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
Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet (1994) 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
A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet (1996) 1.45
Syndromes due to chromosomal abnormalities: partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. Johns Hopkins Med J (1979) 1.45
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
Stability of X chromosomal inactivation in human somatic cells. Nature (1972) 1.38
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet (1987) 1.38
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells. Science (1971) 1.37
Multiple rhabdomyomatous mesenchymal hamartomas of skin. Am J Dermatopathol (1990) 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
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
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation. Am J Hum Genet (1971) 1.29
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
Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. Nature (1974) 1.22
Isolation and analysis of somatic hybrids derived from two human diploid cells. Proc Natl Acad Sci U S A (1974) 1.18
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
Delaying treatment of supracondylar fractures in children: has the pendulum swung too far? J Bone Joint Surg Br (2008) 1.16
Effect of intercellular communication on the selection of intraspecific human hybrids in HAT and ouabain. Somatic Cell Genet (1978) 1.15
The Barr body is a looped X chromosome formed by telomere association. Proc Natl Acad Sci U S A (1991) 1.15
Interferon production and action in mouse, hamster and somatic hybrid mouse-hamster cells. Science (1968) 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
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
Nevus comedonicus syndrome. Indian J Dermatol (2011) 1.09
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet (2001) 1.09
The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet (1977) 1.08
Stability of the "two active X" phenotype in triploid somatic cells. Cell (1979) 1.07
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
The human NTT gene: identification of a novel 17-kb noncoding nuclear RNA expressed in activated CD4+ T cells. Genomics (1997) 1.06
In search of non-random X inactivation: studies of fetal membranes heterozygous for glucose-6-phosphate dehydrogenase. Am J Hum Genet (1979) 1.06
Verrucous hemangioma or angiokeratoma? A missed diagnosis. Indian J Dermatol (2011) 1.06
External fixation and limited internal fixation for complex fractures of the tibial plateau. J Bone Joint Surg Am (1995) 1.06
The nature of thymidine kinase in the human-mouse hybrid cell. Biochem Genet (1969) 1.05
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40. Humangenetik (1975) 1.04
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
Implications for X-chromosome regulation from studies of human X-chromosome DNA. Cold Spring Harb Symp Quant Biol (1983) 1.02
Centromeric inactivation in a dicentric human Y;21 translocation chromosome. Chromosoma (1997) 1.01
The epidemiology of nematode and fluke infections in cattle in the Red River Delta in Vietnam. Vet Parasitol (2000) 1.00
Selection and cell communication as determinants of female phenotype. Basic Life Sci (1978) 0.99
Ischiospinal dysostosis with rib gaps and nephroblastomatosis. Clin Dysmorphol (2001) 0.99
Characterization of reiterated human DNA with respect to mammalian X chromosome homology. Somat Cell Mol Genet (1984) 0.99
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol (1992) 0.98
Cutaneous manifestations of diabetes mellitus. Indian J Dermatol Venereol Leprol (2010) 0.95
Resection arthroplasty of the hip for patients with cerebral palsy: an outcome study. J Pediatr Orthop (1999) 0.95
PriA mutations that affect PriA-PriC function during replication restart. Mol Microbiol (2001) 0.95
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet (1992) 0.94
Localization of glucose-6-phosphate dehydrogenase in mouse and man by in situ hybridization: evidence for a single locus and transposition of homologous X-linked genes. Cytogenet Cell Genet (1985) 0.94
Non-random loss of human markers from man-mouse somatic cell hybrids. Nature (1974) 0.93
A new R-banding technique in clinical cytogenetics. Hum Genet (1980) 0.92
Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus (1995) 0.90
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet (1991) 0.90
Antimalarial compounds from Rhaphidophora decursiva. J Nat Prod (2001) 0.90
Comparison of contact-mediated communication in normal and transformed human cells in culture. Proc Natl Acad Sci U S A (1977) 0.89
DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation. Somat Cell Mol Genet (1993) 0.89
Studies of human-mouse cell hybrids with respect to X-chromosome inactivation. Basic Life Sci (1978) 0.89
Genetic disorders of male sexual differentiation. Adv Hum Genet (1980) 0.88
The effect of Trypanosoma evansi infection on pig performance and vaccination against classical swine fever. Vet Parasitol (2003) 0.88
Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet (1996) 0.88
Gene expression in euploid human hybrid cells: ouabain resistance is codominant. Somatic Cell Genet (1978) 0.88
Androgen receptors and metabolism in cultured human fetal fibroblasts. Pediatr Res (1980) 0.88
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet (1990) 0.88
Hybridization of mammalian somatic cells. Prog Med Genet (1970) 0.87