RARE GENETIC DISORDERS OF THE AIRWAYS
罕见的气道遗传性疾病
基本信息
- 批准号:7716868
- 负责人:
- 金额:$ 0.86万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2008
- 资助国家:美国
- 起止时间:2008-04-02 至 2008-05-31
- 项目状态:已结题
- 来源:
- 关键词:ClassificationClinicalComputer Retrieval of Information on Scientific Projects DatabaseDataDiagnosisDiagnosticDiseaseEvaluationFoundationsFundingGenesGrantHereditary DiseaseInstitutionNitric OxideNosePatientsPhytohemagglutininsPrevalenceRegistriesResearchResearch PersonnelResourcesSensitivity and SpecificitySeveritiesSourceUnited States National Institutes of HealthVariantage relateddisease-causing mutation
项目摘要
This subproject is one of many research subprojects utilizing the
resources provided by a Center grant funded by NIH/NCRR. The subproject and
investigator (PI) may have received primary funding from another NIH source,
and thus could be represented in other CRISP entries. The institution listed is
for the Center, which is not necessarily the institution for the investigator.
Primary Objecttives: 1) Utilize a systematic approach to the diagnostic evaluation of patients in order to distinguish between PCD, variant CF, and PHA. 2) Identify disease-causing mutation in genes. 3) Define the sensitivity and specificity of nasal nitric oxide (NO) for the diagnosis of PCD.
Secondary Objective: 1) Compare prevalence and age-related severity of key clinical features among these 3 disorders (PCD, variant CF, and PHA), as well as comparison to "classic" CF, using comparable data in the CF Foundation-supported CF Registry.
这个子项目是众多研究子项目之一
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Michael R Knowles其他文献
IMPAIRMENT OF NASAL Na+ TRANSPORT IN VERY PRETERM INFANTS WITH RESPIRATORY DISTRESS SYNDROME (RDS). • 1982
呼吸窘迫综合征(RDS)极低出生体重儿鼻 Na+转运受损。•1982 年
- DOI:
10.1203/00006450-199604001-02006 - 发表时间:
1996-04-01 - 期刊:
- 影响因子:3.100
- 作者:
C. W Gowen;Pierre M Barker;Michael R Knowles - 通讯作者:
Michael R Knowles
Michael R Knowles的其他文献
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{{ truncateString('Michael R Knowles', 18)}}的其他基金
Molecular Phenotypes for Cystic Fibrosis Lung Disease
囊性纤维化肺病的分子表型
- 批准号:
7691761 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
GENETIC DISORDERS OF MUCOCILIARY CLEARANCE: RARE DISEASES: PCD, CF, & PHA
粘膜纤毛间隙遗传性疾病:罕见疾病:PCD、CF、
- 批准号:
7724741 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
Molecular Phenotypes for Cystic Fibrosis Lung Disease
囊性纤维化肺病的分子表型
- 批准号:
8109359 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
GENETIC MUTATIONS IN PATIENTS WITH PRIMARY CILIARY DYSKINESIA AND FAMILY
原发性纤毛运动障碍患者及其家族的基因突变
- 批准号:
7716746 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
ASSOCIATION OF GENOTYPE AND CIRCULATING LEVELS OF TGF?1 IN CYSTIC FIBROSIS PA
囊性纤维化 PA 中 TGF?1 基因型与循环水平的关联
- 批准号:
7716894 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
Molecular Phenotypes for Cystic Fibrosis Lung Disease
囊性纤维化肺病的分子表型
- 批准号:
7903160 - 财政年份:2008
- 资助金额:
$ 0.86万 - 项目类别:
GENETIC DISORDERS OF MUCOCILIARY CLEARANCE: RARE DISEASES: PCD, CF, & PHA
粘膜纤毛间隙遗传性疾病:罕见疾病:PCD、CF、
- 批准号:
7622820 - 财政年份:2007
- 资助金额:
$ 0.86万 - 项目类别:
GENETIC MUTATIONS IN PATIENTS WITH PRIMARY CILIARY DYSKINESIA AND FAMILY
原发性纤毛运动障碍患者及其家族的基因突变
- 批准号:
7625498 - 财政年份:2006
- 资助金额:
$ 0.86万 - 项目类别:
MEASUREMENT OF AIRWAY TRANSEPITHELIAL POTENTIAL DIFFERENCE IN CF
CF 气道上皮电位差的测量
- 批准号:
7625491 - 财政年份:2006
- 资助金额:
$ 0.86万 - 项目类别:
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