Published in Hum Genet on January 01, 1985
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A whole-genome radiation hybrid panel for bovine gene mapping. Mamm Genome (1997) 1.77
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Development of a deer mouse whole-genome radiation hybrid panel and comparative mapping of Mus chromosome 11 loci. Mamm Genome (2006) 0.86
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Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1989) 5.48
Five polymorphic microsatellite VNTRs on the human X chromosome. Am J Hum Genet (1990) 5.38
Genomic and genetic definition of a functional human centromere. Science (2001) 4.28
Formation of de novo centromeres and construction of first-generation human artificial microchromosomes. Nat Genet (1997) 4.27
Clonal analysis using recombinant DNA probes from the X-chromosome. Cancer Res (1987) 4.25
Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet (1988) 4.21
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem (1990) 3.87
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature (1991) 3.59
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A (1985) 3.50
Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science (1985) 3.43
Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science (1988) 3.40
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
Characterization of a murine gene expressed from the inactive X chromosome. Nature (1991) 3.21
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. Proc Natl Acad Sci U S A (1986) 3.21
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res (1983) 2.94
The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet (1998) 2.91
Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome. Mol Cell Biol (1986) 2.81
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1984) 2.70
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Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell (1990) 2.70
New method for mapping genes in human chromosomes. Nature (1975) 2.69
X inactivation in females with X-linked disease. N Engl J Med (1998) 2.67
Isolation of human fibroblast catalase cDNA clones. Sequence of clones derived from spliced and unspliced mRNA. J Biol Chem (1984) 2.57
Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. Proc Natl Acad Sci U S A (1986) 2.54
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J Biol Chem (1986) 2.54
Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48
Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Res (1981) 2.41
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol (1985) 2.39
The human X-inactivation centre is not required for maintenance of X-chromosome inactivation. Nature (1994) 2.32
Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome. Nucleic Acids Res (1985) 2.28
Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet (1987) 2.24
Campylobacter jejuni and Campylobacter coli serotypes isolated from chickens, cattle, and pigs. J Clin Microbiol (1983) 2.23
Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome. Mol Cell Biol (1987) 2.18
Esperanto for histones: CENP-A, not CenH3, is the centromeric histone H3 variant. Chromosome Res (2013) 2.12
Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet (1985) 2.10
Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum Mol Genet (1993) 2.05
Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy. Am J Hum Genet (1976) 1.90
Replication timing of DNA sequences associated with human centromeres and telomeres. Mol Cell Biol (1990) 1.89
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet (1997) 1.88
Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes. Nucleic Acids Res (1987) 1.87
Integration of human alpha-satellite DNA into simian chromosomes: centromere protein binding and disruption of normal chromosome segregation. Cell (1992) 1.87
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science (1984) 1.85
The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Nature (1986) 1.84
Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. Am J Hum Genet (1978) 1.80
MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone. Nucleic Acids Res (1987) 1.80
A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. J Cell Biol (2001) 1.79
Long-range organization of tandem arrays of alpha satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci U S A (1989) 1.79
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
PCR amplification of chromosome-specific alpha satellite DNA: definition of centromeric STS markers and polymorphic analysis. Genomics (1991) 1.74
Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet (1989) 1.74
Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. Hum Mol Genet (2001) 1.71
Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes. Cancer Res (1988) 1.67
BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma (1976) 1.66
Heritability of X chromosome--inactivation phenotype in a large family. Am J Hum Genet (1996) 1.62
Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. Hum Mol Genet (1997) 1.60
The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA. Am J Hum Genet (1998) 1.60
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet (1993) 1.57
Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. J Biol Chem (1988) 1.56
Campylobacter jejuni enteritis in man and domestic animals. J Am Vet Med Assoc (1982) 1.54
Physical and genetic mapping of the human X chromosome centromere: repression of recombination. Genome Res (1998) 1.53
Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A (1999) 1.52
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet (1976) 1.52
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1990) 1.51
Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down syndrome. Science (1988) 1.49
Gene transfer by means of cell fusion. II. The mapping of 8 loci on human chromosome 1 by statistical analysis of gene assortment in somatic cell hybrids. J Cell Sci (1977) 1.49
Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci U S A (1989) 1.47
Stable dicentric X chromosomes with two functional centromeres. Nat Genet (1998) 1.47
Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism. Hum Genet (1986) 1.45
Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics (1991) 1.43
Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. Proc Natl Acad Sci U S A (1998) 1.43
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end. Science (1988) 1.38
Experimental cholera in the chinchilla. J Infect Dis (1974) 1.38
Expression of genes from the human active and inactive X chromosomes. Am J Hum Genet (1997) 1.38
Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10. Genomics (1988) 1.36
RFLP detected by an X-linked cDNA encoding erythroid-potentiating activity/tissue inhibitor of metalloproteinase (EPA/TIMP). Nucleic Acids Res (1986) 1.33
A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci. Hum Mol Genet (1993) 1.32
Human T-cell tumours containing chromosome 14 inversion or translocation with breakpoints proximal to immunoglobulin joining regions at 14q32. EMBO J (1987) 1.32
Purification and properties of methylmalonyl coenzyme A mutase from human liver. Arch Biochem Biophys (1982) 1.31
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum Mol Genet (1994) 1.31
Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin. Biochem Biophys Res Commun (1977) 1.31
The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am J Hum Genet (1990) 1.31
Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet Cell Genet (1986) 1.29
Epigenetic regulation of gene expression: the effect of altered chromatin structure from yeast to mammals. Hum Mol Genet (1995) 1.27
Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression. J Clin Invest (1980) 1.27
Mammalian chromosome structure. Curr Opin Genet Dev (1993) 1.26
Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin. Mol Cell Biol (1993) 1.25
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
Genomic analysis of sequence variation in tandemly repeated DNA. Evidence for localized homogeneous sequence domains within arrays of alpha-satellite DNA. J Mol Biol (1990) 1.23
X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet (1996) 1.23
Pulsed-field gel analysis of alpha-satellite DNA at the human X chromosome centromere: high-frequency polymorphisms and array size estimate. Genomics (1990) 1.23
Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation. Nucleic Acids Res (1986) 1.22