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The World Congress on Chromosome Abnormalities

The World Congress on Chromosome Abnormalities
世界染色体异常大会
批准号:
6730317
负责人:
JANNINE De Mars CODY
金额:
$2.8万
依托单位国家:
美国
项目类别:
财政年份:
2004
资助国家:
美国
项目状态:
已结题
起止时间:
2004-03-01 至 2005-02-28

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中文摘要
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英文摘要
DESCRIPTION (provided by applicant): The overall goal of this conference is to optimize the specific treatment of children born with chromosome abnormalities so they can lead healthy and autonomous lives. To accomplish this goal, the organizers seek to better understand the consequences of chromosome abnormalities on specific organs and tissues so that treatment regimes can be devised which are specific to each individual's deletion or duplication. The organizers will try to create an interdisciplinary community of clinicians and scientists who will devise standardized evaluation tools for comprehensive phenotypic and genotypic evaluation of individuals with chromosome abnormalities. This step is necessary before syndrome specific evaluations can be designed. Thus, the meeting will emphasize phenotypic assessment with the perspective of possible molecular mechanisms. The product of this series of sessions will be a published group of papers on the uniform, systematic assessment of individuals with chromosome abnormalities. This objective will be initiated as a conference during which six working groups will be convened, focusing on Molecular Genetics, Endocrinology and Metabolism, Neuro & Anatomical Imaging, Perception & Communication, Cognitive Neuroscience, and Data Integration and Bioinformatics. To do so, this conference will have adequate administrative staff so that it can move forward in a timely manner and not rely entirely on the volunteer time of committee members. This application seeks funding for the Scientific Sessions of the World Congress on Chromosome Abnormalities, to be held in June of 2004 in San Antonio, Texas.
期刊论文(1)
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会议论文
Linking chromosome abnormality and copy number variation.
将染色体异常与拷贝数变异联系起来。
DOI: 10.1002/ajmg.a.33849
发表时间: 2011
期刊: American journal of medical genetics. Part A
影响因子: --
作者: [Cody,JannineD, Hale,DanielE]
通讯作者: Hale,DanielE
Molecular and Cellular Mechanisms of Chromosome 18q23 Dysmyelination
Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program
THE CHROMOSOME 18 CLINICAL RESEARCH CENTER
THE CHROMOSOME 18 CLINICAL RESEARCH CENTER
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