Published in Genomics on September 01, 1987
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet (1989) 62.23
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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science (1992) 16.38
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A (1986) 12.92
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet (2001) 11.06
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res (1983) 8.92
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
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
A first-generation X-inactivation profile of the human X chromosome. Proc Natl Acad Sci U S A (1999) 6.59
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
PIK3CA is implicated as an oncogene in ovarian cancer. Nat Genet (1999) 6.18
The stromal proteinase MMP3/stromelysin-1 promotes mammary carcinogenesis. Cell (1999) 6.08
Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization. Proc Natl Acad Sci U S A (1994) 5.74
Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer (1994) 5.52
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
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Five polymorphic microsatellite VNTRs on the human X chromosome. Am J Hum Genet (1990) 5.38
Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas. Nat Genet (2001) 4.96
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Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
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
Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene. Nat Genet (2000) 4.13
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem (1990) 3.87
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature (1991) 3.59
The association between age and health literacy among elderly persons. J Gerontol B Psychol Sci Soc Sci (2000) 3.52
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A (1985) 3.50
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48
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
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ERBB2 amplification in breast cancer analyzed by fluorescence in situ hybridization. Proc Natl Acad Sci U S A (1992) 3.25
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
Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. EMBO J (1998) 3.12
E2A deficiency leads to abnormalities in alphabeta T-cell development and to rapid development of T-cell lymphomas. Mol Cell Biol (1997) 3.10
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
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Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (1991) 3.03
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature (1996) 2.95
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
An autosomal transcript in skeletal muscle with homology to dystrophin. Nature (1989) 2.91
The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet (1984) 2.84
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell (1987) 2.83
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
Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc Natl Acad Sci U S A (1998) 2.80
Attenuated peptide YY release in obese subjects is associated with reduced satiety. Endocrinology (2005) 2.80
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74
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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
The Pumilio RNA-binding domain is also a translational regulator. Mol Cell (1998) 2.68
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
X inactivation in females with X-linked disease. N Engl J Med (1998) 2.67
Molecular characterization of cell cycle gene CDC7 from Saccharomyces cerevisiae. Mol Cell Biol (1986) 2.67
Impaired function of circulating HIV-specific CD8(+) T cells in chronic human immunodeficiency virus infection. Blood (2000) 2.65
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet (1995) 2.59
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
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
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet (1994) 2.53
Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res (1998) 2.44
Deficiency of p53 accelerates mammary tumorigenesis in Wnt-1 transgenic mice and promotes chromosomal instability. Genes Dev (1995) 2.41
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
The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 kilobase pairs. Genomics (1989) 2.39
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol (1985) 2.39
PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39
Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics (1987) 2.35
The human X-inactivation centre is not required for maintenance of X-chromosome inactivation. Nature (1994) 2.32
"Total therapy" studies of acute lymphocytic leukemia in children. Current results and prospects for cure. Cancer (1972) 2.28
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
Central and peripheral administration of kisspeptin-10 stimulates the hypothalamic-pituitary-gonadal axis. J Neuroendocrinol (2004) 2.27
Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet (1987) 2.24
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
Central nervous system therapy and combination chemotherapy of childhood lymphocytic leukemia. Blood (1971) 2.18
Esperanto for histones: CENP-A, not CenH3, is the centromeric histone H3 variant. Chromosome Res (2013) 2.12
Segmentation of confocal microscope images of cell nuclei in thick tissue sections. J Microsc (1999) 2.12
Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet (1985) 2.10
Comparative genomic hybridization: a rapid new method for detecting and mapping DNA amplification in tumors. Semin Cancer Biol (1993) 2.09
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum Mol Genet (1993) 2.05
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00
Treatment of acute lymphoblastic leukemia. 30 years' experience at St. Jude Children's Research Hospital. N Engl J Med (1993) 1.99
DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child (1995) 1.98