Published in Humangenetik on September 10, 1975
Inactive X chromosome DNA does not function in DNA-mediated cell transformation for the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci U S A (1980) 2.11
Reactivation of silent rRNA genes by simian virus 40 in human-mouse hybrid cells. Proc Natl Acad Sci U S A (1979) 1.58
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
Evidence for DNA modification in the maintenance of X-chromosome inactivation of adult mouse tissues. Proc Natl Acad Sci U S A (1982) 1.31
Comparison of contact-mediated communication in normal and transformed human cells in culture. Proc Natl Acad Sci U S A (1977) 0.89
Differential activation of the hprt gene on the inactive X chromosome in primary and transformed Chinese hamster cells. Mol Cell Biol (1989) 0.81
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet (1994) 4.11
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 3.94
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature (1994) 3.87
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
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
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
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
Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9. Hum Genet (1986) 2.84
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
Non-inactivation of an x-chromosome locus in man. Science (1979) 2.74
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A (1999) 2.70
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
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia. Invest Ophthalmol Vis Sci (2000) 2.06
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
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
A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet (1998) 1.81
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet (2001) 1.68
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
Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60
Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet Cytogenet (1990) 1.60
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
Phenotypic intrafamilial heterogeneity in cystic fibrosis. Clin Genet (1993) 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
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
Serotonin 5-HT3 and 5-HT4 ligands: an update of medicinal chemistry research in the last few years. Curr Med Chem (2010) 1.45
Recombinations between IRP and cystic fibrosis. Am J Hum Genet (1988) 1.44
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet (1983) 1.44
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet (1997) 1.42
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
Observation of a centrality-dependent dijet asymmetry in lead-lead collisions at sqrt[S(NN)] =2.76 TeV with the ATLAS detector at the LHC. Phys Rev Lett (2010) 1.41
Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet (1985) 1.41
Use of BICAP in a case of colon angiodysplasia. Surg Endosc (1991) 1.39
Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7 TeV. Phys Rev Lett (2011) 1.39
Bax is increased in the retina of diabetic subjects and is associated with pericyte apoptosis in vivo and in vitro. Am J Pathol (2000) 1.39
Stability of X chromosomal inactivation in human somatic cells. Nature (1972) 1.38
A full-length murine 2-5A synthetase cDNA transfected in NIH-3T3 cells impairs EMCV but not VSV replication. Virology (1990) 1.38
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells. Science (1971) 1.37
Determination of the strange-quark density of the proton from ATLAS measurements of the W→ℓν and Z→ℓℓ cross sections. Phys Rev Lett (2012) 1.34
Fucosidosis revisited: a review of 77 patients. Am J Med Genet (1991) 1.32
Evidence for the inactivation of an X chromosome early in the development of the human female. Am J Hum Genet (1975) 1.32
Search for new particles in two-jet final states in 7 TeV proton-proton collisions with the ATLAS detector at the LHC. Phys Rev Lett (2010) 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
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 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
Observation of associated near-side and away-side long-range correlations in sqrt[s(NN)]=5.02 TeV proton-lead collisions with the ATLAS detector. Phys Rev Lett (2013) 1.27
Progress in the development of selective nitric oxide synthase (NOS) inhibitors. Curr Pharm Des (2002) 1.26
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
Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria. Proc Natl Acad Sci U S A (1969) 1.21
RET mutations in human disease. Trends Genet (1996) 1.20
Search for dark matter candidates and large extra dimensions in events with a photon and missing transverse momentum in pp collision data at sqrt[s]=7 TeV with the ATLAS detector. Phys Rev Lett (2013) 1.19
Isolation and analysis of somatic hybrids derived from two human diploid cells. Proc Natl Acad Sci U S A (1974) 1.18
HIV-1 Nef activates STAT1 in human monocytes/macrophages through the release of soluble factors. Blood (2001) 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
Uroporphyrinogen decarboxylase from mouse spleen. Biochim Biophys Acta (1971) 1.16
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
Interferon production and action in mouse, hamster and somatic hybrid mouse-hamster cells. Science (1968) 1.13
Search for a supersymmetric partner to the top quark in final states with jets and missing transverse momentum at sqrt[s] = 7 TeV with the ATLAS detector. Phys Rev Lett (2012) 1.13
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet (1996) 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
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet (1999) 1.12
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol (1998) 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
Mapping of human cellular retinol-binding protein to chromosome 3. Cytogenet Cell Genet (1986) 1.08
Volume-sensitive chloride currents in four epithelial cell lines are not directly correlated to the expression of the MDR-1 gene. J Biol Chem (1994) 1.08
Stability of the "two active X" phenotype in triploid somatic cells. Cell (1979) 1.07
Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium. J Clin Endocrinol Metab (1999) 1.07
Search for tb resonances in proton-proton collisions at √s=7 TeV with the ATLAS detector. Phys Rev Lett (2012) 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
Molecular cloning and mapping of a human cDNA (PA2G4) that encodes a protein highly homologous to the mouse cell cycle protein p38-2G4. Cytogenet Cell Genet (1997) 1.07
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet (2003) 1.07
Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence. Int Angiol (2005) 1.06
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
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet (1999) 1.06
The nature of thymidine kinase in the human-mouse hybrid cell. Biochem Genet (1969) 1.05