解剖学和形态学
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abstract::Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-3-2-128
更新日期:2009-01-01 00:00:00
abstract::Perifosine belongs to the class of alkylphospholipid analogues, which act primarily at the cell membrane, thereby targeting signal transduction pathways. In phase I/II clinical trials, perifosine has induced tumour regression and caused disease stabilisation in a variety of tumour types. The genetic determinants respo...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-3-1-53
更新日期:2008-09-01 00:00:00
abstract::The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-2-6-422
更新日期:2006-06-01 00:00:00
abstract::The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondrial analysis as a vital component of medical research. Moreover, mitochondria have been implicated in the proce...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-2-4-252
更新日期:2006-01-01 00:00:00
abstract::This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two classes of procedures. Analysis of two different sets of SNP gen...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-2-2-144
更新日期:2005-06-01 00:00:00
abstract::The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-6-456
更新日期:2004-11-01 00:00:00
abstract::The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In a...
journal_title:Human genomics
pub_type: 杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract::Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA targets present limited design options to lower GC-content sequences only. We have developed the MGB Eclipse Pro...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-3-209
更新日期:2004-03-01 00:00:00
abstract::The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/dupl...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-1-2-126
更新日期:2004-01-01 00:00:00
abstract::In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-1-20
更新日期:2003-11-01 00:00:00