Published in Proc Natl Acad Sci U S A on December 15, 1993
XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J Cell Biol (1996) 5.51
Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. Am J Hum Genet (1994) 1.08
X-chromosome inactivation: molecular mechanisms from the human perspective. Hum Genet (2011) 1.03
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet (1996) 0.97
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet (1994) 0.94
A familial Xp+ chromosome, dup (Xq26.3-->qter). J Med Genet (1995) 0.90
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. Reproduction (2011) 0.86
Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. J Med Genet (1996) 0.85
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. J Med Genet (1998) 0.78
Cytogenetic and molecular findings in patients with Turner's syndrome stigmata. J Med Genet (1995) 0.77
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet (1998) 0.77
Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. J Med Genet (1995) 0.77
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features. Mol Syndromol (2016) 0.75
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem (1987) 281.19
Quantitation of mRNA by the polymerase chain reaction. Proc Natl Acad Sci U S A (1989) 15.69
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature (1991) 8.22
The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell (1992) 8.05
Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet (1962) 6.28
The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell (1992) 6.26
The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell (1993) 4.76
Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature (1991) 3.43
Characterization of a murine gene expressed from the inactive X chromosome. Nature (1991) 3.21
HUMAN SEX CHROMOSOME ABNORMALITIES IN RELATION TO DNA REPLICATION AND HETEROCHROMATINIZATION. Proc Natl Acad Sci U S A (1963) 1.64
Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52
X inactivation in mammalian testis is correlated with inactive X-specific transcription. Nat Genet (1992) 1.51
Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics (1992) 1.43
Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet (1989) 1.22
Asynchronous replication of homologous loci on human active and inactive X chromosomes. Proc Natl Acad Sci U S A (1990) 1.17
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes. Hum Mol Genet (1993) 1.15
The Barr body is a looped X chromosome formed by telomere association. Proc Natl Acad Sci U S A (1991) 1.15
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Am J Med Genet (1992) 1.15
Expression of the X-inactivation-associated gene XIST during spermatogenesis. Nat Genet (1992) 1.07
45X/46X,r(X) with syndactyly and severe mental retardation. Am J Med Genet (1987) 1.06
Mammalian X-chromosome inactivation and the XIST gene. Curr Opin Genet Dev (1992) 1.04
Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes. Hum Genet (1992) 1.00
Mental retardation in Turner syndrome. J Pediatr (1991) 0.96
Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics (1972) 22.68
Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays. Nat Biotechnol (2000) 15.79
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Derivation of pluripotent stem cells from cultured human primordial germ cells. Proc Natl Acad Sci U S A (1998) 4.92
Transformation of monocytes in tissue culture into macrophages, epithelioid cells, and multinucleated giant cells. An electron microscope study. J Cell Biol (1966) 4.74
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Trisomy in man. Annu Rev Genet (1984) 4.15
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell (1991) 3.98
Clinical outcome of patients with HIV-1 infection according to immunologic and virologic response after 6 months of highly active antiretroviral therapy. Ann Intern Med (2000) 3.95
Hepatitis B virus transactivator HBx uses a tumour promoter signalling pathway. Nature (1993) 3.88
A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet (1980) 3.82
A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet (1974) 3.80
Women's attitudes toward gynecologic practices. Obstet Gynecol (1979) 3.52
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes. Chromosoma (1990) 3.29
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature (1997) 3.27
In vitro cloning of complex mixtures of DNA on microbeads: physical separation of differentially expressed cDNAs. Proc Natl Acad Sci U S A (2000) 3.26
The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet (1984) 3.17
Aggressive behavior, mental sub-normality and the XYY male. Nature (1965) 3.10
Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet (1991) 3.08
Haematogenous metastatic patterns in colonic carcinoma: an analysis of 1541 necropsies. J Pathol (1986) 2.93
ATF6 as a transcription activator of the endoplasmic reticulum stress element: thapsigargin stress-induced changes and synergistic interactions with NF-Y and YY1. Mol Cell Biol (2000) 2.89
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
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Cloning and expression of a human kidney cDNA for an alpha 2-adrenergic receptor subtype. Proc Natl Acad Sci U S A (1988) 2.78
A new alpha-conotoxin which targets alpha3beta2 nicotinic acetylcholine receptors. J Biol Chem (1996) 2.76
ECG beat detection using filter banks. IEEE Trans Biomed Eng (1999) 2.62
X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet (1994) 2.55
Molecular cloning and expression of the cDNA for the alpha 1A-adrenergic receptor. The gene for which is located on human chromosome 5. J Biol Chem (1991) 2.35
Hepatitis B virus, aflatoxins, and hepatocellular carcinoma in southern Guangxi, China. Cancer Res (1989) 2.35
Molecular cloning and expression of the cDNA for a novel alpha 1-adrenergic receptor subtype. J Biol Chem (1990) 2.35
Human intestinal H+/peptide cotransporter. Cloning, functional expression, and chromosomal localization. J Biol Chem (1995) 2.32
Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nat Genet (1994) 2.29
CD14lowCD16high: a cytokine-producing monocyte subset which expands during human immunodeficiency virus infection. Eur J Immunol (1995) 2.28
Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature (1974) 2.23
Head rotation during internal jugular vein cannulation and the risk of carotid artery puncture. Anesth Analg (1996) 2.19
An analysis of the break points of structural rearrangements in man. J Med Genet (1974) 2.18
[Idiopathic CD4 lymphocytopenia]. Presse Med (1994) 2.03
Fragile X premutation screening in women with premature ovarian failure. Hum Reprod (1998) 1.99
Structural abnormalities of the Y chromosome in man. Nature (1966) 1.99
Efficacy and safety of combination therapy with interferon-alpha2b and ribavirin for chronic hepatitis C in HIV-infected patients. AIDS (2000) 1.97
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
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
X-linked mental retardation: a study of 7 families. Am J Med Genet (1980) 1.93
Chromosome studies on randomly chosen men and women. Lancet (1965) 1.92
The JNK pathway regulates the In vivo deletion of immature CD4(+)CD8(+) thymocytes. J Exp Med (1998) 1.91
Common clonal origin of synchronous primary head and neck squamous cell carcinomas: analysis by tumor karyotypes and fluorescence in situ hybridization. Hum Pathol (1995) 1.91
C-terminal truncation of the retinoblastoma gene product leads to functional inactivation. Proc Natl Acad Sci U S A (1990) 1.91
Genetic analysis of benign, low-grade, and high-grade ovarian tumors. Cancer Res (1995) 1.91
Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet (1972) 1.86
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet (1982) 1.86
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
Chromosome studies on 3500 newborn male infants. Lancet (1970) 1.82
Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1. Ann Hum Genet (1974) 1.81
Hypocomplementaemia of poststreptococcal acute glomerulonephritis is associated with C3 nephritic factor (C3NeF) IgG autoantibody activity. Nephrol Dial Transplant (1994) 1.80
Autocrine production of interleukin 6 causes multidrug resistance in breast cancer cells. Cancer Res (2001) 1.79
Monosomal karyotype in myelodysplastic syndromes, with or without monosomy 7 or 5, is prognostically worse than an otherwise complex karyotype. Leukemia (2010) 1.79
Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr (1976) 1.77
Lymphoepithelioma-like carcinoma of the lung. Am J Surg Pathol (1989) 1.77
Long-term clinical outcome of human immunodeficiency virus-infected patients with discordant immunologic and virologic responses to a protease inhibitor-containing regimen. J Infect Dis (2001) 1.76
Direct analysis of the chromosome constitution of human spermatozoa. Nature (1978) 1.76
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet (1981) 1.74
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Genet (1999) 1.74
Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities. Clin Genet (1972) 1.70
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
Characterization of a novel 350-kilodalton nuclear phosphoprotein that is specifically involved in mitotic-phase progression. Mol Cell Biol (1995) 1.67
Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet (1994) 1.66
The inheritance of translocations in man: data from families ascertained through a balanced heterozygote. Ann Hum Genet (1970) 1.66
An imprinted gene(s) for diabetes? Nat Genet (1995) 1.65
The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet (1983) 1.64
Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Am J Hum Genet (1986) 1.64
Drug resistance profiles for the HIV integrase gene in patients failing raltegravir salvage therapy. HIV Med (2008) 1.63
Discrepant responses to triple combination antiretroviral therapy in advanced HIV disease. AIDS (1998) 1.62
Heparin modulates integrin function in human platelets. J Vasc Surg (2001) 1.62
Human epidermal growth factor receptor-2 and estrogen receptor expression, a demonstration project using the residual tissue repository of the Surveillance, Epidemiology, and End Results (SEER) program. Breast Cancer Res Treat (2008) 1.62
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology (1995) 1.62
Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells. Cell (1982) 1.62
Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet (1997) 1.62
The influence of host immunity on the arrest of circulating cancer cells, and its modification by neuraminidase. Int J Cancer (1974) 1.61
P-Selectin glycoprotein ligand 1 (PSGL-1) is expressed on platelets and can mediate platelet-endothelial interactions in vivo. J Exp Med (2000) 1.61
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
Reduced cardiac selenium content in the acquired immunodeficiency syndrome. JPEN J Parenter Enteral Nutr (1990) 1.59
Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet (1992) 1.56
Effect of ageing on reactivation of the human X-linked HPRT locus. Nature (1988) 1.55
Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis. Cell Death Differ (2009) 1.55
Mechanism of origin of complete hydatidiform moles. Nature (1980) 1.55
Ultrastructural changes of endothelium associated with thrombocytopenia. Blood (1975) 1.53
Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci U S A (1985) 1.53
Acrocentric chromosome associations in man. Am J Hum Genet (1976) 1.53
Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet (1993) 1.52