Connection

JAMES LUPSKI to Repetitive Sequences, Nucleic Acid

This is a "connection" page, showing publications JAMES LUPSKI has written about Repetitive Sequences, Nucleic Acid.
  1. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.
    View in: PubMed
    Score: 0.355
  2. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005 Feb 15; 14(4):535-42.
    View in: PubMed
    Score: 0.223
  3. Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol. 2005 Jan; 43(1):199-207.
    View in: PubMed
    Score: 0.222
  4. Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20.
    View in: PubMed
    Score: 0.220
  5. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38.
    View in: PubMed
    Score: 0.185
  6. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 2001 Jul; 11(7):1205-10.
    View in: PubMed
    Score: 0.174
  7. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997 Oct; 17(2):154-63.
    View in: PubMed
    Score: 0.135
  8. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38.
    View in: PubMed
    Score: 0.121
  9. Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria. Genome Res. 1995 Nov; 5(4):408-18.
    View in: PubMed
    Score: 0.118
  10. DNA fingerprinting of pathogenic bacteria by fluorophore-enhanced repetitive sequence-based polymerase chain reaction. Arch Pathol Lab Med. 1995 Jan; 119(1):23-9.
    View in: PubMed
    Score: 0.111
  11. Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates. J Clin Microbiol. 1993 Jul; 31(7):1927-31.
    View in: PubMed
    Score: 0.100
  12. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300.
    View in: PubMed
    Score: 0.096
  13. Short, interspersed repetitive DNA sequences in prokaryotic genomes. J Bacteriol. 1992 Jul; 174(14):4525-9.
    View in: PubMed
    Score: 0.094
  14. Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Res. 1991 Dec 25; 19(24):6823-31.
    View in: PubMed
    Score: 0.090
  15. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34.
    View in: PubMed
    Score: 0.084
  16. Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71.
    View in: PubMed
    Score: 0.079
  17. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet. 2007 Nov 01; 16(21):2560-71.
    View in: PubMed
    Score: 0.067
  18. Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times. Gene. 1984 Oct; 30(1-3):99-106.
    View in: PubMed
    Score: 0.055
  19. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 2003 May; 72(5):1101-16.
    View in: PubMed
    Score: 0.049
  20. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet. 2003 Feb; 72(2):246-52.
    View in: PubMed
    Score: 0.049
  21. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 2003; 101(2):118-23.
    View in: PubMed
    Score: 0.048
  22. Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol. 2003; 68:445-54.
    View in: PubMed
    Score: 0.048
  23. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev. 2002 Jun; 12(3):312-9.
    View in: PubMed
    Score: 0.046
  24. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
    View in: PubMed
    Score: 0.039
  25. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998 May; 62(5):1023-33.
    View in: PubMed
    Score: 0.035
  26. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics. 1997 May 15; 42(1):46-54.
    View in: PubMed
    Score: 0.033
  27. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet. 1997 Jan; 34(1):43-9.
    View in: PubMed
    Score: 0.032
  28. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97.
    View in: PubMed
    Score: 0.030
  29. Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR. J Clin Microbiol. 1995 Aug; 33(8):2141-4.
    View in: PubMed
    Score: 0.029
  30. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63.
    View in: PubMed
    Score: 0.025
  31. Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction. J Clin Microbiol. 1992 Nov; 30(11):2921-9.
    View in: PubMed
    Score: 0.024
  32. Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet. 2007 Jul; 3(7):e119.
    View in: PubMed
    Score: 0.017
  33. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet. 2007 Jul; 121(6):697-709.
    View in: PubMed
    Score: 0.016
  34. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Apr; 17(4):451-60.
    View in: PubMed
    Score: 0.016
  35. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902.
    View in: PubMed
    Score: 0.016
  36. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37.
    View in: PubMed
    Score: 0.015
  37. Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005 Aug; 79(4):309-13.
    View in: PubMed
    Score: 0.014
  38. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. 2004 Jan; 74(1):1-10.
    View in: PubMed
    Score: 0.013
  39. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 1992 Jul; 13(3):551-9.
    View in: PubMed
    Score: 0.006
  40. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6.
    View in: PubMed
    Score: 0.005
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