Genetics Core
Genetics Core
批准号:
8931785
负责人:
DAVID VALLE
金额:
$14.41万
依托单位国家:
美国
项目类别:
财政年份:
2014
资助国家:
美国
项目状态:
已结题
起止时间:
2014-09-23 至 2019-05-31
关键词:
Behavior DisordersBehavioralCell LineCognitiveCore FacilityCytogenetic AnalysisDevelopmentDevelopmental Delay DisordersDevelopmental DisabilitiesEtiologyFluorescent in Situ HybridizationGeneticGenomicsGenotypeInstitutionIntellectual functioning disabilityKaryotypeMedicalMental Retardation and Developmental Disabilities Research CentersMorbidity - disease rateMutation AnalysisNatural HistoryOther GeneticsParentsPhenotypeResearch SupportResourcesRoleServicesSingle Nucleotide PolymorphismVariantgene discoveryneuropsychiatryoutcome forecasttissue culture
中文摘要
遗传学核心的目标是支持研究,以更好地了解基因的作用
与正常和异常的身体、认知和/或行为发育相关的因素。支撑点
研究的重点是各种疾病的病因、自然病史和预后。
发育迟缓、神经精神障碍以及发育迟缓的行为和生理特征
残疾人士。这些包括与基因组拷贝数变化相关的表型变异,酶促
缺陷和新疗法,基因发现,突变分析,基因-表型相关性,以及
拷贝数变化在发病中的作用。Genetics Core提供的服务包括:(1)细胞系
建立和组织培养;(2)细胞遗传学分析,即核型和原位荧光
杂交,(3)单核苷酸多态微阵列,(4)用基因组鉴定区域
基因组异常的纯合性和起源亲本。核心还作为IDDRC支持的项目与在UNS内建立的其他遗传学核心设施的资源的接口
霍普金斯医疗机构。
英文摘要
The objective of the Genetics Core is to support research to better understand the role of genetic
factors associated with normal and abnormal physical, cognitive and/or behavioral development. Supported
research focuses on etiology, natural history and prognosis of a variety of conditions associated with
developmental delay, neuropsychiatric disorders, and behavioral and physical features of developmental
disabilities. These include phenotypic variations associated with genomic copy number changes, enzymatic
deficiencies and new therapies, gene discovery, mutation analysis, genotype-phenotype correlation, and the
role of copy number changes in morbidity. The services provided by the Genetics Core include: (1) cell line
establishment and tissue culture, (2) cytogenetic analysis, namely karyotype and fluorescence in situ
hybridization, (3) single nucleotide polymorphism microarray, and (4) identification of regions with genomic
homozygosity and parent of origin for genomic abnormalities. The Core also serves as an interface for IDDRC-supported projects with the resources of the other Genetics Core facilities established within the Johns
Hopkins Medical Institutions.
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8237388
-
项目类别:
-
资助金额:$400.0万
-
财政年份:2011
-
负责人:DAVID VALLE
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依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
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批准号:9269870
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项目类别:
-
资助金额:$22.06万
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财政年份:2011
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负责人:DAVID VALLE
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依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
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批准号:9923273
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项目类别:
-
资助金额:$231.89万
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财政年份:2011
-
负责人:DAVID VALLE
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依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
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批准号:8845225
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项目类别:
-
资助金额:$387.09万
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财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
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批准号:8393220
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项目类别:
-
资助金额:$379.16万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
-
批准号:9047798
-
项目类别:
-
资助金额:$309.99万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8601122
-
项目类别:
-
资助金额:$389.07万
-
财政年份:2011
-
负责人:DAVID VALLE
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依托单位:
Core C
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批准号:8080402
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项目类别:
-
资助金额:$12.7万
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财政年份:2010
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负责人:DAVID VALLE
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依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7479370
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项目类别:
-
资助金额:$247.78万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:
Genotyping for Studying the Genetic Contributions to Human Disease
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批准号:7941280
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项目类别:
-
资助金额:$1125.55万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7929667
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项目类别:
-
资助金额:$295.53万
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财政年份:2007
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负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:8332915
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项目类别:
-
资助金额:$100.0万
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财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7502429
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项目类别:
-
资助金额:$549.63万
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财政年份:2007
-
负责人:DAVID VALLE
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依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7690586
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项目类别:
-
资助金额:$198.0万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:
HIGH THROUGHPUT GENOTYPING FOR STUDING THE GENETIC CONTRIBUTIONS TO HUMAN DISEAS
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批准号:7542695
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项目类别:
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资助金额:$2137.96万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:--
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7676239
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项目类别:
-
资助金额:$160.55万
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财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7693055
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项目类别:
-
资助金额:$126.2万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:
CIDR Genotyping
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批准号:7978581
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项目类别:
-
资助金额:$46.92万
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财政年份:2007
-
负责人:DAVID VALLE
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依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7942285
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项目类别:
-
资助金额:$193.25万
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财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
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批准号:7327916
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项目类别:
-
资助金额:$352.15万
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财政年份:2007
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负责人:DAVID VALLE
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依托单位:
国内基金
海外基金
Behavioral Insights on Cooperation in Social Dilemmas
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批准号:--
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项目类别:外国优秀青年学者研究基金项目
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资助金额:--
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批准年份:2024
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负责人:LIEN,Jaimie Wei-Hung
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依托单位: