Copy number variation at the breakpoint region of isochromosome 17q.

scientific article published on 19 August 2008

Copy number variation at the breakpoint region of isochromosome 17q. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1101/GR.080697.108
P932PMC publication ID2577857
P698PubMed publication ID18714090
P5875ResearchGate publication ID23181351

P50authorJames R. LupskiQ6141679
P2093author name stringClaudia M B Carvalho
P2860cites workPsoriasis is associated with increased beta-defensin genomic copy numberQ39789019
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Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.Q51907530
Complex chromosomal rearrangements in patients with chronic myeloid leukemiaQ58459382
Gain of chromosome arm 17q and adverse outcome in patients with neuroblastomaQ77911604
Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)Q77914958
Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutationsQ77920771
A bacterial artificial chromosome library for sequencing the complete human genomeQ22065763
Global variation in copy number in the human genomeQ24658083
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeQ24683002
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionQ28141491
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityQ28257488
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substratesQ28262271
Isochromosome breakpoints on 17p in medulloblastoma are flanked by different classes of DNA sequence repeatsQ29037387
Various distinctive cytogenetic abnormalities in patients with acute myeloid leukaemia aged 60 years and older express adverse prognostic value: results from a prospective clinical trialQ33264716
Genome architecture catalyzes nonrecurrent chromosomal rearrangementsQ33904646
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.Q33905308
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 repeatsQ33909470
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Q33930829
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionQ33938790
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Q34353994
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeQ34441884
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeQ34556894
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.Q34556905
Recurrent DNA inversion rearrangements in the human genomeQ35699743
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.Q35784798
High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cellsQ36714190
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profilesQ36718902
Human genes encoding U3 snRNA associate with coiled bodies in interphase cells and are clustered on chromosome 17p11.2 in a complex inverted repeat structureQ39721767
P4510describes a project that usesImageQuantQ112270642
P433issue11
P304page(s)1724-1732
P577publication date2008-08-19
P1433published inGenome ResearchQ5533485
P1476titleCopy number variation at the breakpoint region of isochromosome 17q.
P478volume18

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cites work (P2860)
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