Search Results - "Deaven, LL"
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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever
Published in Cell (22-08-1997)“…Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by dramatic episodes of fever and serosal inflammation. This report…”
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2
The Gene for the Human Erythropoietin Receptor: Analysis of the Coding Sequence and Assignment to Chromosome 19p
Published in Blood (01-07-1990)“…The full-length coding sequence of the human erythropoietin receptor has been assembled from cDNA and genomic DNA. The derived 508 amino acid sequence is 82%…”
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3
Positional cloning of the Fanconi anaemia group A gene
Published in Nature genetics (01-11-1996)“…Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and…”
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4
New, Male-Specific Microsatellite Markers from the Human Y Chromosome
Published in Genomics (San Diego, Calif.) (01-05-1999)“…Seven novel microsatellite markers have been developed from a new cosmid library constructed from flow-sorted human Y chromosomes. These microsatellites are…”
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Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity
Published in Human molecular genetics (01-07-1997)“…A 9.7 kb segment encompassing exons 7–10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the…”
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A Highly Conserved Repetitive DNA Sequence, (TTAGGG)n, Present at the Telomeres of Human Chromosomes
Published in Proceedings of the National Academy of Sciences - PNAS (01-09-1988)“…A highly conserved repetitive DNA sequence, (TTAGGG)n, has been isolated from a human recombinant repetitive DNA library. Quantitative hybridization to…”
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7
Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization
Published in Genome research (01-05-2000)“…We have used sequence-based markers from an integrated YAC STS-content/somatic cell hybrid breakpoint physical map and radiation hybrid maps of human…”
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An integrated physical map of human chromosome 16
Published in Nature (London) (28-09-1995)“…We describe an integrated physical, genetic and cytogenetic map of human chromosome 16 comprising both a low-resolution megaYAC map and a high-resolution…”
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A retinoic acid-responsive human zinc finger gene, MZF-1, preferentially expressed in myeloid cells
Published in The Journal of biological chemistry (05-08-1991)“…Zinc finger genes encode metal-binding proteins that can act as transcriptional regulators of other genes. In an effort to identify activators of the genetic…”
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10
Isolation of a B-cell-specific promoter for the human class II transactivator
Published in Immunogenetics (New York) (01-01-1997)“…The class II transactivator (CIITA) is essential for the expression of major histocompatibility complex (MHC) class II antigens. The tissular patterns of CIITA…”
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Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3
Published in Genomics (San Diego, Calif.) (15-05-1997)“…In the interest of cloning and analyzing the genes responsible for two very different diseases, the Rubinstein–Taybi syndrome (RTS) and acute myeloid leukemia…”
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12
Physical Mapping of Human Chromosomes by Repetitive Sequence Fingerprinting
Published in Proceedings of the National Academy of Sciences - PNAS (01-08-1990)“…We have developed an approach for identifying overlapping cosmid clones by exploiting the high density of repetitive sequences in complex genomes. Individual…”
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13
A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3
Published in Cancer letters (19-04-1996)“…Chromosome 17p13.3 is frequently deleted in human ovarian carcinoma, and the 15 kb critical region of deletion may contain a tumor suppressor gene. A 2.3 kb…”
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An integrated physical map for the short arm of human chromosome 5
Published in Genome research (01-12-1999)“…The short arm of human chromosome 5 contains approximately 48 Mb of DNA and comprises 1.5% of the genome. We have constructed a mega-YAC/ STS map of this…”
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Human release factor eRF1: structural organisation of the unique functional gene on chromosome 5 and of the three processed pseudogenes
Published in FEBS letters (02-07-1999)“…In lower and higher eukaryotes, a family of tightly related proteins designated eRF1 (for eukaryotic release factor 1) catalyses termination of protein…”
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Characterization of a fusion cDNA (RARA/myl) transcribed from the t(15;17) translocation breakpoint in acute promyelocytic leukemia
Published in Molecular and Cellular Biology (01-02-1992)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Construction of human chromosome 16- and 5-specific circular YAC/BAC libraries by in vivo recombination in yeast (TAR cloning)
Published in Genomics (San Diego, Calif.) (01-10-1998)“…Transformation-associated recombination (TAR) in yeast was exploited for the selective isolation of human DNAs as large circular yeast artificial chromosomes…”
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18
Human thrombomodulin: complete cDNA sequence and chromosome localization of the gene
Published in Biochemistry (Easton) (14-07-1987)“…A human umbilical vein endothelial cell cDNA library in lambda gt11 was screened for expression of thrombomodulin antigens with affinity-purified rabbit…”
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Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis
Published in Chromosoma (01-01-1987)“…Two recombinant DNA clones that are localized to single human chromosomes were isolated from a human repetitive DNA library. Clone pHuR 98, a variant satellite…”
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Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: application to the mapping of human chromosome 7 using yeast artificial chromosomes
Published in Genomics (San Diego, Calif.) (01-11-1991)“…Basic to the development of long-range physical maps of DNA are the detection and localization of landmarks within recombinant clones. Sequence-tagged sites…”
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