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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
...and painting probes for comparative mapping: Implications for the evolution of human chromosome 2. Chromosoma 104 : 537 – 544 . ↵ Inoue K. , Dewar K. , Katsanis N. , Reiter L.T. , Lander E.S. , Devon K.L. , Wyman D.W. , Lupski J.R. , Birren B. ( 2001 ) The 1.4 Mb CMT1A duplication/HNPP deletion genomic region...
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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 hereditary neuropathy with liability to pressure palsies, [HNPP]) and proximal, middle, and distal SMSREPs (associated with Smith-Magenis syndrome [SMS] and dup(17)(p11.2p11.2) syndrome). Recently, we provided evidence for the existence of yet another set of LCRs in 17p11.2-p12 termed LCR17pA, B, C, D, E, F...
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Research: Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms
- Ankit Malhotra,
- Michael Lindberg,
- Gregory G. Faust,
- Mitchell L. Leibowitz,
- Royden A. Clark,
- Ryan M. Layer,
- Aaron R. Quinlan,
- and Ira M. Hall
Genome Res. May 2013 23: 762-776; Published in Advance February 14, 2013, doi:10.1101/gr.143677.112
...Tumor genomes are generally thought to evolve through a gradual accumulation of mutations, but the observation that extraordinarily complex rearrangements can arise through single mutational events suggests that evolution may be accelerated by punctuated changes in genome architecture. To assess...
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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
....19% of the SMCR. The repetitive elements include 20.54% Alu sequences and 6.19% LINE1 sequences, similar to that of chromosome 22, but different from chromosome 21, which contains 9.48% Alu and 15.51% LINE1 sequences, and the CMT1A/HNPP region in 17p12, that contains 9.97% Alu and 13.43% LINE1 elements ( Dunham...
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ARTICLE: Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
- Sung-Sup Park,
- Paweł Stankiewicz,
- Weimin Bi,
- Christine Shaw,
- Jessica Lehoczky,
- Ken Dewar,
- Bruce Birren,
- and James R. Lupski
Genome Res. May 1, 2002 12: 729-738; doi:10.1101/gr.82802
.... ↵ Inoue K. , Dewar K. , Katsanis N. , Reiter L.T. , Lander E.S. , Devon K.L. , Wyman D.W. , Lupski J.R. , Birren B. ( 2001 ) The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique architectural features and provides insights into the recent evolution of new genes. Genome Res. 11 : 1018...
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LETTER: AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12
- Melanie Babcock,
- Svetlana Yatsenko,
- Pawel Stankiewicz,
- James R. Lupski,
- and Bernice E. Morrow
Genome Res. April 2007 17: 451-460; Published in Advance February 6, 2007, doi:10.1101/gr.5651507
...human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal rearrangements responsible for many genomic disorders. The 22q11.2 region is susceptible to recurrent and nonrecurrent deletions, duplications as well as translocations that are mediated by LCRs...
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ARTICLE: Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution
- Melanie Babcock,
- Adam Pavlicek,
- Elizabeth Spiteri,
- Catherine D. Kashork,
- Ilya Ioshikhes,
- Lisa G. Shaffer,
- Jerzy Jurka,
- and Bernice E. Morrow
Genome Res. December 2003 13: 2519-2532; doi:10.1101/gr.1549503
...-Willi (OMIM 176270) and Angelman syndromes (OMIM 105830) on chromosome 15q12, hereditary neuropathy with liability to pressure palsies (HNPP; OMIM 162500) on 17p12, and Smith-Magenis syndrome (OMIM 182290) on chromosome 17p11.2. In some cases, the reciprocal product of an interchromosomal recombination event...
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Method: De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease
- Daniel Melamed,
- Yuval Nov,
- Assaf Malik,
- Michael B. Yakass,
- Evgeni Bolotin,
- Revital Shemer,
- Edem K. Hiadzi,
- Karl L. Skorecki,
- and Adi Livnat
Genome Res. March 2022 32: 488-498; Published in Advance January 14, 2022, doi:10.1101/gr.276103.121
...featured a single microdeletion rate decreasing with size (Gu and Li 1995; Kondrashov 2003; Lynch 2010), sized-based rate variation cannot explain the aforementioned correspondence obtained for same-sized deletions, the higher rate of the Hb-Leiden mutation compared to the smaller deletions, or the extent...
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