惰性气体 发表于 2025-3-28 14:49:55

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

Cholecystokinin 发表于 2025-3-28 20:02:28

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,

collateral 发表于 2025-3-29 00:37:30

,Deviation durch Kompaß- 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

reptile 发表于 2025-3-29 05:56:00

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Commonwealth 发表于 2025-3-29 10:18:15

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

scrutiny 发表于 2025-3-29 12:33:39

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)(

摇晃 发表于 2025-3-29 19:13:14

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

闯入 发表于 2025-3-29 21:22:36

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

champaign 发表于 2025-3-30 01:55:49

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内阁 发表于 2025-3-30 04:22:02

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