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Titlebook: Genomic Disorders; The Genomic Basis of James R. Lupski,Pawel Stankiewicz Book 2006 Humana Press 2006 DNA.chromosome.diseases.evolution.gen

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發(fā)表于 2025-3-21 17:40:36 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書目名稱Genomic Disorders
副標(biāo)題The Genomic Basis of
編輯James R. Lupski,Pawel Stankiewicz
視頻videohttp://file.papertrans.cn/383/382890/382890.mp4
概述Includes supplementary material:
圖書封面Titlebook: Genomic Disorders; The Genomic Basis of James R. Lupski,Pawel Stankiewicz Book 2006 Humana Press 2006 DNA.chromosome.diseases.evolution.gen
描述A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
出版日期Book 2006
關(guān)鍵詞DNA; chromosome; diseases; evolution; genome; genome structure; microarray; mouse; organizations; retroviruse
版次1
doihttps://doi.org/10.1007/978-1-59745-039-3
isbn_softcover978-1-61737-642-9
isbn_ebook978-1-59745-039-3
copyrightHumana Press 2006
The information of publication is updating

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發(fā)表于 2025-3-22 00:16:18 | 只看該作者
Francis Balestra,Gérard Ghibaudosignificant role not only in common recurrent deletions and duplications, but also in other rearrangements including unusual sized (i.e., uncommon, recurrent and nonrecurrent) chromosomal deletions, reciprocal translocations, and marker chromosomes. DNA sequence analysis from both common and unusual
板凳
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Devices for Cardiac Resynchronization:e to the choice of discrete sites for strand exchange have been identified. NF1 -REP-mediated NF1 microdeletions involve 13 additional genes, whereas JJAZ1 -mediated microdeletions involve the same genes but one. NF1 microdeletions are of great interest because they predispose to a heavy tumor burde
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Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p significant role not only in common recurrent deletions and duplications, but also in other rearrangements including unusual sized (i.e., uncommon, recurrent and nonrecurrent) chromosomal deletions, reciprocal translocations, and marker chromosomes. DNA sequence analysis from both common and unusual
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發(fā)表于 2025-3-22 19:18:53 | 只看該作者
Chromosome 22q11.2 Rearrangement Disorders q11.2) syndrome. In contrast to VCFS/DGS, dup(22)(q11.2; q11.2) and CES, der(22) syndrome is caused by a different molecular mechanism. Der(22) disorder arises in offspring of normal carriers of the constitutional t(1 1 ;22) (q23.3; q1 1.2) translocation by recombination between AT-rich (high AT se
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Neurofibromatosis 1e to the choice of discrete sites for strand exchange have been identified. NF1 -REP-mediated NF1 microdeletions involve 13 additional genes, whereas JJAZ1 -mediated microdeletions involve the same genes but one. NF1 microdeletions are of great interest because they predispose to a heavy tumor burde
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發(fā)表于 2025-3-23 03:39:35 | 只看該作者
structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variat
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發(fā)表于 2025-3-23 08:11:15 | 只看該作者
https://doi.org/10.1007/978-3-658-19630-1omic tools, the understanding of this highly sophisticated sensory neuronal pathway has been rather sketchy. In this chapter we summarize the relevant progress made in the last decade, and highlight the initial elucidation of two classes of olfactory deficits and their possible underlying genetic mechanisms.
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