Searching journal content for articles similar to Park et al. 12 (5): 729.

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  1. ARTICLE: Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse
    • Weimin Bi,
    • Jiong Yan,
    • Paweł Stankiewicz,
    • Sung-Sup Park,
    • Katherina Walz,
    • Cornelius F. Boerkoel,
    • Lorraine Potocki,
    • Lisa G. Shaffer,
    • Koen Devriendt,
    • Małgorzata J.M. Nowaczyk,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. May 1, 2002 12: 713-728; doi:10.1101/gr.73702
    ...-copy repeats. View larger version: In this window In a new window Figure 2. Comparison of the gene order in the human SMS common deletion region and its mouse syntenic region. Genes within the human SMS region on 17p11.2 are shown above. Open boxes represent the SMS-REPs. Below is shown the minimum BAC tiling...
  2. ARTICLE: Serial segmental duplications during primate evolution result in complex human genome architecture
    • Paweł Stankiewicz,
    • Christine J. Shaw,
    • Marjorie Withers,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. November 2004 14: 2209-2220; doi:10.1101/gr.2746604
    ...., and Morrow, B.E. 2003 . Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu -mediated recombination events during evolution. Genome Res. 13 : 2519 -2532. ↵ Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., and Eichler, E.E. 2001 . Segmental duplications: Organization and impact within...
  3. LETTER: The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes
    • Ken Inoue,
    • Ken Dewar,
    • Nicholas Katsanis,
    • Lawrence T. Reiter,
    • Eric S. Lander,
    • Keri L. Devon,
    • Dudley W. Wyman,
    • James R. Lupski,
    • and Bruce Birren
    Genome Res. June 1, 2001 11: 1018-1033; doi:10.1101/gr.180401
    ...the identification of low-copy number repeats (LCRs), the comparison of genetic and physical maps, the identification and characterization of genes, and a mechanism for the evolution of new mammalian genes by DNA rearrangements. RESULTS Sequencing the 1.4-Mb CMT1A Duplication/HNPP Deletion Region A contig...
  4. LETTER: Copy number variation at the breakpoint region of isochromosome 17q
    • Claudia M.B. Carvalho and
    • James R. Lupski
    Genome Res. November 2008 18: 1724-1732; Published in Advance August 19, 2008, doi:10.1101/gr.080697.108
    ...syndrome repeat gene clusters, SMS-REPs . Genome Res. 12 : 729 – 738 . ↵ Potocki, L. , Chen, K.-S. , Park, S.-S. , Osterholm, D.E. , Withers, M.A. , Kimonis, V. , Summers, A.M. , Meschino, W.S. , Anyane-Yeboa, K. , Kashork, C.D. , et al. ( 2000 ) Molecular mechanism for duplication 17p11.2- the homologous...
  5. LETTER: 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
    • Pawel Stankiewicz,
    • Sung-Sup Park,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. July 1, 2001 11: 1205-1210; doi:10.1101/gr.181101
    ...of the SMS-REP repeat gene cluster. Am. J. Hum. Genet. 67: Supp 2:67 : 293 . ↵ Potocki L. , Chen K.-S. , Park S.-S. , Osterholm D.E. , Withers M.A. , Kimonis V. , Summers A.M. , Meschino W.S. , Anyane-Yeboa K. , Kashork C.D. , Shaffer L.G. , Lupski J.R. ( 2000 ) Molecular mechanism for duplication 17p11...
  6. REVIEW: Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders
    • Yonggang Ji,
    • Evan E. Eichler,
    • Stuart Schwartz,
    • and Robert D. Nicholls
    Genome Res. May 1, 2000 10: 597-610; doi:10.1101/gr.10.5.597
    .... The duplicon in such cases is either a gene cluster or repeated sequences flanking a gene. Homologous recombination between the duplicons generates an imbalance of a dosage-sensitive gene, leading to a disease phenotype. This group includes a number of disorders such as red-green color blindness and α- or β...
  7. LETTER: Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms
    • Tamim H. Shaikh,
    • Ronald J. O’Connor,
    • Mary Ella Pierpont,
    • James McGrath,
    • April M. Hacker,
    • Manjunath Nimmakayalu,
    • Elizabeth Geiger,
    • Beverly S. Emanuel,
    • and Sulagna C. Saitta
    Genome Res. April 2007 17: 482-491; Published in Advance March 9, 2007, doi:10.1101/gr.5986507
    ...Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms Tamim H. Shaikh 1 , 2 , 5 , Ronald J. O’Connor 1 , 5 , Mary Ella Pierpont 3 , James McGrath 4 , April M. Hacker 1...
  8. INSIGHT/OUTLOOK: Masquerading Repeats: Paralogous Pitfalls of the Human Genome
    • Evan E. Eichler
    Genome Res. August 1, 1998 8: 758-762; doi:10.1101/gr.8.8.758
    ...locations of known intrachromosomally duplicated gene segments are shown as solid boxes in relation to genetic markers of these regions. More intrachromosomal duplicated copies of the GGT-like repeat block [which consists of variable smaller repeat units of the γ-glutamyl transferase ( GGT ) and breakpoint-cluster...
  9. ARTICLE: Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10p
    • Jane Guy,
    • Tom Hearn,
    • Moira Crosier,
    • Jonathan Mudge,
    • Luigi Viggiano,
    • Dirk Koczan,
    • Hans-Jurgen Thiesen,
    • Jeffrey A. Bailey,
    • Julie E. Horvath,
    • Evan E. Eichler,
    • Mark E. Earthrowl,
    • Panos Deloukas,
    • Lisa French,
    • Jane Rogers,
    • David Bentley,
    • and Michael S. Jackson
    Genome Res. February 1, 2003 13: 159-172; Published in Advance January 14, 2003, doi:10.1101/gr.644503
    .... The figures for interspersed repeats are typical for human autosomal DNA ( IHGSC 2001 , Venter et al. 2001 ). Proximal 10p11 Is Gene Poor The principle gene-related features identified within the sequence are shown in Figure 2 A and Table 1 . There is unequivocal evidence for the existence of four genes...
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