2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesHigh frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeHotspots of homologous recombination in the human genome: not all homologous sequences are equalTraffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.Genome architecture catalyzes nonrecurrent chromosomal rearrangementsReciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.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 repeats2002 Curt Stern Award address. Introductory speech for James R. LupskiTempos of gene locus deletions and duplications and their relationship to recombination rate during diploid and polyploid evolution in the Aegilops-Triticum alliance.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Chromosomal phenotypes and submicroscopic abnormalitiesA model of segmental duplication formation in Drosophila melanogaster.Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Disorders of the genome architecture: a review.Gene duplication and ectopic gene conversion in Drosophila.Serial segmental duplications during primate evolution result in complex human genome architecture.Mutational mechanisms of Williams-Beuren syndrome deletions.The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
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P2860
2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
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2003 nî lūn-bûn
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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2003 թվականի փետրվարին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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type
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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2002 Curt Stern Award Address. ...... ing from genomic architecture.
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P2860
P356
P1476
2002 Curt Stern Award Address. ...... ing from genomic architecture.
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James R Lupski
P2860
P304
P356
10.1086/346217
P407
P577
2003-02-01T00:00:00Z