標題: Titlebook: Genomic Disorders; The Genomic Basis of James R. Lupski,Pawel Stankiewicz Book 2006 Humana Press 2006 DNA.chromosome.diseases.evolution.gen [打印本頁] 作者: Jackson 時間: 2025-3-21 17:40
書目名稱Genomic Disorders影響因子(影響力)
書目名稱Genomic Disorders影響因子(影響力)學科排名
書目名稱Genomic Disorders網絡公開度
書目名稱Genomic Disorders網絡公開度學科排名
書目名稱Genomic Disorders被引頻次
書目名稱Genomic Disorders被引頻次學科排名
書目名稱Genomic Disorders年度引用
書目名稱Genomic Disorders年度引用學科排名
書目名稱Genomic Disorders讀者反饋
書目名稱Genomic Disorders讀者反饋學科排名
作者: –FER 時間: 2025-3-22 00:16
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作者: 首創(chuàng)精神 時間: 2025-3-22 02:40 作者: 暴行 時間: 2025-3-22 08:04
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作者: Intend 時間: 2025-3-22 10:53 作者: 沒血色 時間: 2025-3-22 15:54
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作者: 沒血色 時間: 2025-3-22 19:18
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作者: 混合,攙雜 時間: 2025-3-22 21:14
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作者: dragon 時間: 2025-3-23 03:39
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作者: euphoria 時間: 2025-3-23 08:11
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.作者: 惰性女人 時間: 2025-3-23 10:53
Violent Crime: Assault, Rape, Robbery,nd editing to a wide range of RNA transcripts. In addition, after insertion . elements contribute to a high level of genetic instability through recombination. This instability contributes to a significant number of germ-line mutations and may be an even bigger factor in cancer and/or aging.作者: 委派 時間: 2025-3-23 17:49
https://doi.org/10.1007/978-3-658-08135-5abnormal, and engineered human chromosomes is providing insights into the nature of human centromeres and their mechanism of action, as well as enabling comparison with centromeres of other eukaryotic organisms and the identification of genomic elements required for normal centromere function.作者: STANT 時間: 2025-3-23 19:34
,Deviation durch Kompa?- und andere Fehler,cies and domesticated animals provided important clues to the molecular mechanisms that shaped the human genome. These strategies were complemented by the launch of the chimpanzee genome project, leading to the recent publication of the first chimpanzee draft sequence and its alignment with the human reference sequence.作者: 徹底檢查 時間: 2025-3-23 22:52
Materials and Experimental Techniques,architecture. The segmental duplicon clusters at 6p22.1 and 15q24-26 are clear examples of remains of inactivated ancestral centromeres. These duplicons are dispersed in a relatively large area (approx 10 Mb), and contribute to the bulk of nonpericentromeric segmental duplications that constitute approx 5% of the human genome.作者: reperfusion 時間: 2025-3-24 05:12
https://doi.org/10.1007/978-3-030-04513-5ogous recombination (NAHR). Identification of the predicted reciprocal recombination product, the hereditary neuropathy with liability to pressure palsies (HNPP) deletion, resulted in a model for reciprocal duplication/deletion genomic disorders.作者: Initiative 時間: 2025-3-24 09:40
https://doi.org/10.1007/978-3-031-14883-5ses because of the disruption of one copy of the elastin gene, through either deletion, translocation or point mutation (.–.), but the genes contributing to the remaining aspects of WBS have not yet been definitively determined.作者: 疼死我了 時間: 2025-3-24 14:39 作者: 價值在貶值 時間: 2025-3-24 16:08 作者: ureter 時間: 2025-3-24 19:13
Primate Chromosome Evolutioncies and domesticated animals provided important clues to the molecular mechanisms that shaped the human genome. These strategies were complemented by the launch of the chimpanzee genome project, leading to the recent publication of the first chimpanzee draft sequence and its alignment with the human reference sequence.作者: Congregate 時間: 2025-3-25 01:06
Genome Plasticity in Evolutionarchitecture. The segmental duplicon clusters at 6p22.1 and 15q24-26 are clear examples of remains of inactivated ancestral centromeres. These duplicons are dispersed in a relatively large area (approx 10 Mb), and contribute to the bulk of nonpericentromeric segmental duplications that constitute approx 5% of the human genome.作者: judiciousness 時間: 2025-3-25 07:10
The CMT1A Duplication and HNPP Deletionogous recombination (NAHR). Identification of the predicted reciprocal recombination product, the hereditary neuropathy with liability to pressure palsies (HNPP) deletion, resulted in a model for reciprocal duplication/deletion genomic disorders.作者: HOWL 時間: 2025-3-25 08:53
Williams-Beuren Syndromeses because of the disruption of one copy of the elastin gene, through either deletion, translocation or point mutation (.–.), but the genes contributing to the remaining aspects of WBS have not yet been definitively determined.作者: 瘙癢 時間: 2025-3-25 14:41
Book 2006c 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.作者: Semblance 時間: 2025-3-25 18:07 作者: Projection 時間: 2025-3-25 22:30
The Theoretical Framework for the Study, a host of other human traits. There was apersonal, one might say egocentric, reason to choose CMT because I have the disease (.) and, in fact, the first blood samples collected for DNA linkage studies were from my own family wherein CMT segregated as an apparent autosomal recessive trait.作者: hedonic 時間: 2025-3-26 03:53
us, L1-mediated retrotransposition events are responsible for at least one-third of our genome. In this chapter, we discuss how innovative assays developed in recent years have increased our understanding of L1 biology and the impact of L1 on the human genome.作者: geriatrician 時間: 2025-3-26 07:08
https://doi.org/10.1007/978-3-663-09666-5 two distinct non-B conformations, which may reside either on the same chromosome or on two distinct chromosomes. This model was applicable to both Escherichia coli and humans, suggesting that the mechanisms involved are highly conserved.作者: 健壯 時間: 2025-3-26 11:21
The CMT1A Duplication a host of other human traits. There was apersonal, one might say egocentric, reason to choose CMT because I have the disease (.) and, in fact, the first blood samples collected for DNA linkage studies were from my own family wherein CMT segregated as an apparent autosomal recessive trait.作者: 定點 時間: 2025-3-26 16:14
The Impact of LINE-1 Retro transposition on the Human Genomeus, L1-mediated retrotransposition events are responsible for at least one-third of our genome. In this chapter, we discuss how innovative assays developed in recent years have increased our understanding of L1 biology and the impact of L1 on the human genome.作者: 不能逃避 時間: 2025-3-26 16:54 作者: 貪婪性 時間: 2025-3-27 00:45 作者: MONY 時間: 2025-3-27 03:16
d DNA transposons. We briefly introduce the genomic structure and replication strategy of these elements, their expression competence, and focus on the contribution of these repeats to human diseases. We also discuss some of the TE-derived genes and regulatory elements.作者: pineal-gland 時間: 2025-3-27 07:02
Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retrovirusesd DNA transposons. We briefly introduce the genomic structure and replication strategy of these elements, their expression competence, and focus on the contribution of these repeats to human diseases. We also discuss some of the TE-derived genes and regulatory elements.作者: 故意 時間: 2025-3-27 09:37 作者: Feckless 時間: 2025-3-27 16:42 作者: consent 時間: 2025-3-27 18:50 作者: Conflict 時間: 2025-3-28 01:07
d to genome diversification and individual genetic variation by serving as insertional mutagens and by providing recombination substrates either during or long after their insertion. L1 retrotransposition also generates genomic variation by mobilizing DNA derived from its flanks, non-autonomous retr作者: asthma 時間: 2025-3-28 05:06 作者: 多余 時間: 2025-3-28 07:53
https://doi.org/10.1007/978-3-322-92540-4ompletion of the Human Genome Project has now made possible the systematic analysis of the extent and distribution of duplicated sequences in humans. Both in situ hybridization and in silico approaches have shown that approx 5% of our genome is composed of highly homologous duplicated sequence (.,.)作者: Indicative 時間: 2025-3-28 10:41 作者: 惰性氣體 時間: 2025-3-28 14:49
https://doi.org/10.1007/978-3-658-19630-1ense of smell is an excellent example of how genome analysis provides new information on genome organization and on deficits. Before the advent of genomic tools, the understanding of this highly sophisticated sensory neuronal pathway has been rather sketchy. In this chapter we summarize the relevant作者: Cholecystokinin 時間: 2025-3-28 20:02
https://doi.org/10.1007/978-3-658-08135-5ities of chromosome segregation, the underlying genomic basis and mechanism(s) of which are largely unknown. Human centromeres consist of megabases ofα-satelliteDNA, atandemlyrepeatedDNA family whose genomic organization, evolution, and function is increasingly well understood. The study of normal, 作者: collateral 時間: 2025-3-29 00:37
,Deviation durch Kompa?- und andere Fehler,is development was driven by major technological advancements as well as emergence of the deeper insight that many aspects of human genome function can be better understood when information about its evolutionary changes is taken into account. Whole-genome sequencing projects of biomedical model spe作者: reptile 時間: 2025-3-29 05:56 作者: Commonwealth 時間: 2025-3-29 10:18
https://doi.org/10.1007/978-3-030-04513-5ssociated with a common auto-somal dominant trait. Mechanistic studies of the CMT1A duplication have set the paradigm for genomic disorders. The CMT1A-REP low-copy repeats (LCRs) were among the first identified nongenic genomic architectural features that could act as substrates for nonallelic homol作者: scrutiny 時間: 2025-3-29 12:33
Francis Balestra,Gérard Ghibaudo, complex, highly identical (approx 98.7%), and directly oriented, proximal (approx 256 kb) and distal (approx 176 kb) low-copy repeats (LCRs), termed SMS-REPs. These LCR copies mediate nonallelic homologous recombination (NAHR), resulting in both SMS deletion and the reciprocal duplication dup(17)(作者: 搖晃 時間: 2025-3-29 19:13
https://doi.org/10.1007/978-1-4419-8846-1isorders are frequently associated with mental retardation or learning disabilities and mild to severe congenital anomalies. Chromosome 22q11.2 is particularly susceptible to chromosome rearrangements leading to several genomic disorders including velocardiofacial syndrome/DiGeorge syndrome (VCFS/DG作者: 闖入 時間: 2025-3-29 21:22
Devices for Cardiac Resynchronization:ssor gene (NF1), they show a different preference for low-copy repeats (LCR) as substrates for meiotic vs mitotic recombination events, and they account for only a small fraction of mutations that cause the disorder. The NF1 gene at chromosome 17q1 1.2 is flanked by two sets of LCRs in direct orient作者: champaign 時間: 2025-3-30 01:55 作者: 內閣 時間: 2025-3-30 04:22 作者: 針葉 時間: 2025-3-30 10:03 作者: 犬儒主義者 時間: 2025-3-30 16:02
The CMT1A Duplicationer by Botstein and colleagues (.) proposing the genetic mapping of human “disease genes” using linked restriction fragment length polymorphisms (RFLPs) to position the gene within the human genome and indeed became very excited as a graduate student when Gusella’ s paper (.) appeared in Nature linki作者: 擴張 時間: 2025-3-30 17:59 作者: adj憂郁的 時間: 2025-3-30 21:46
The Impact of LINE-1 Retro transposition on the Human Genomed to genome diversification and individual genetic variation by serving as insertional mutagens and by providing recombination substrates either during or long after their insertion. L1 retrotransposition also generates genomic variation by mobilizing DNA derived from its flanks, non-autonomous retr作者: 百科全書 時間: 2025-3-31 01:39
