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1. 发明申请

WO2004075733A2 MICROARRAY-BASED DIAGNOSIS OF PEDIATRIC HEARING IMPAIRMENT-CONSTRUCTION OF A DEAFNESS GENE CHIP 审中-公开
标题翻译：基于微阵列诊断的DEAFNESS基因芯片的缓解听力损伤
公开(公告)号：WO2004075733A2
公开(公告)日：2004-09-10
申请号：PCT/US2004/005586
申请日：2004-02-24
申请人： CHILDREN'S HOSPITAL MEDICAL CENTER , GREINWALD, John, H., Jr. , WENSTRUP, Richard, J. , ARONOW, Bruce, J. , PESTIAN, John, P.
发明人： GREINWALD, John, H., Jr. , WENSTRUP, Richard, J. , ARONOW, Bruce, J. , PESTIAN, John, P.
IPC分类号： A61B
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The present invention is related to diagnostic arrays comprising primers for various regions of candidate genes involved in hearing loss, specifically pediatric hearing loss. The invention further is directed to methods for diagnosing a cause or risk factor for hearing loss. In some embodiments, these methods include obtaining a sample from a patient; screening the sample for the presence or absence of alleles of at least 5 loci associated with a risk for hearing loss to obtain a result of the screening; and making a diagnosis based upon the result. The present invention is also directed to the amplification of genetic sequence from multiple or single exons for use in the screening of samples.
摘要翻译：本发明涉及包括涉及听力损失的候选基因的各个区域的引物的诊断阵列，特别是儿科听力损失。本发明还涉及用于诊断听力损失的原因或危险因素的方法。在一些实施方案中，这些方法包括从患者获得样品; 筛选样品中存在或不存在与听力损失风险相关的至少5个位点的等位基因的存在或不存在以获得筛选结果; 并根据结果进行诊断。本发明还涉及用于筛选样品的多个或单个外显子的遗传序列的扩增。

2. 发明申请

WO2006065758A3 DIAGNOSTIC ASSAY FOR WISKOTT-ALDRICH SYNDROME AND GENETICALLY RELATED DISORDERS 审中-公开
标题翻译： WISKOTT-ALDRICH综合征和遗传性相关疾病的诊断测定
公开(公告)号：WO2006065758A3
公开(公告)日：2007-07-26
申请号：PCT/US2005044956
申请日：2005-12-13
申请人： CHILDRENS HOSP MEDICAL CENTER , ZHANG KEJIAN , WENSTRUP RICHARD J , FILIOPVICH ALEXANDRA H
发明人： ZHANG KEJIAN , WENSTRUP RICHARD J , FILIOPVICH ALEXANDRA H
IPC分类号： C07H21/02
CPC分类号： C12Q1/6883
摘要： The methods and compositions of the invention find use in the clinical diagnosis of primary immunodeficiencies, particularly Wiskott-Aldrich related syndromes. The compositions of the invention include isolated nucleic acid molecules and oligonucleotide pairs suitable for use in amplifying regions of the Wiskott-Aldrich syndrome protein gene and in determining the nucleotide sequence of the Wiskott-Aldrich syndrome protein gene in a patient. The invention facilitates efficient, cost-effective amplification of one or more regions of the Wiskott-Aldrich syndrome protein gene. The nucleotide sequence of amplified DNA comprising one or more regions of the Wiskott-Aldrich Syndrome Protein gene can be determined using the methods and compositions of the invention. Knowledge of the patient's nucleotide sequence in the Wiskott-Aldrich Syndrome Protein gene allows diagnosis of the patient's primary immunodeficiency.
摘要翻译：本发明的方法和组合物用于初级免疫缺陷症的临床诊断，特别是Wiskott-Aldrich相关综合征。本发明的组合物包括适用于扩增Wiskott-Aldrich综合征蛋白基因区域的分离的核酸分子和寡核苷酸对，以及确定患者中Wiskott-Aldrich综合征蛋白基因的核苷酸序列。本发明促进Wiskott-Aldrich综合征蛋白基因的一个或多个区域的有效，成本有效的扩增。可以使用本发明的方法和组合来测定包含Wiskott-Aldrich综合征蛋白基因的一个或多个区域的扩增DNA的核苷酸序列。了解Wiskott-Aldrich综合征蛋白基因中患者的核苷酸序列可以诊断患者的原发性免疫缺陷。

3. 发明申请

WO2006065758A2 DIAGNOSTIC ASSAY FOR WISKOTT-ALDRICH SYNDROME AND GENETICALLY RELATED DISORDERS 审中-公开
标题翻译： WISKOTT-ALDRICH综合征和遗传性相关疾病的诊断测定
公开(公告)号：WO2006065758A2
公开(公告)日：2006-06-22
申请号：PCT/US2005/044956
申请日：2005-12-13
申请人： CHILDREN'S HOSPITAL MEDICAL CENTER , ZHANG, Kejian , WENSTRUP, Richard, J. , FILIOPVICH, Alexandra, H.
发明人： ZHANG, Kejian , WENSTRUP, Richard, J. , FILIOPVICH, Alexandra, H.
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/04
CPC分类号： C12Q1/6883
摘要： The methods and compositions of the invention find use in the clinical diagnosis of primary immunodeficiencies, particularly Wiskott-Aldrich related syndromes. The compositions of the invention include isolated nucleic acid molecules and oligonucleotide pairs suitable for use in amplifying regions of the Wiskott-Aldrich syndrome protein gene and in determining the nucleotide sequence of the Wiskott-Aldrich syndrome protein gene in a patient. The invention facilitates efficient, cost-effective amplification of one or more regions of the Wiskott-Aldrich syndrome protein gene. The nucleotide sequence of amplified DNA comprising one or more regions of the Wiskott-Aldrich Syndrome Protein gene can be determined using the methods and compositions of the invention. Knowledge of the patient's nucleotide sequence in the Wiskott-Aldrich Syndrome Protein gene allows diagnosis of the patient's primary immunodeficiency.
摘要翻译：本发明的方法和组合物用于初级免疫缺陷症的临床诊断，特别是Wiskott-Aldrich相关综合征。本发明的组合物包括适用于扩增Wiskott-Aldrich综合征蛋白基因区域的分离的核酸分子和寡核苷酸对，以及确定患者中Wiskott-Aldrich综合征蛋白基因的核苷酸序列。本发明促进Wiskott-Aldrich综合征蛋白基因的一个或多个区域的有效，成本有效的扩增。可以使用本发明的方法和组合来测定包含Wiskott-Aldrich综合征蛋白基因的一个或多个区域的扩增DNA的核苷酸序列。了解Wiskott-Aldrich综合征蛋白基因中患者的核苷酸序列可以诊断患者的原发性免疫缺陷。

4. 发明申请

WO2007064675A3 OPTIMIZATION AND INDIVIDUALIZATION OF MEDICATION SELECTION AND DOSING 审中-公开
公开(公告)号：WO2007064675A3
公开(公告)日：2007-06-07
申请号：PCT/US2006/045631
申请日：2006-11-28
申请人： CHILDREN'S HOSPITAL MEDICAL CENTER , GLAUSER, Tracy, A. , WENSTRUP, Richard, J. , VINKS, Alexander, A. , PESTIAN, John
发明人： GLAUSER, Tracy, A. , WENSTRUP, Richard, J. , VINKS, Alexander, A. , PESTIAN, John
IPC分类号： G06Q50/00
摘要： The invention provides population models, methods, and algorithms for targeting a dosing regimen or compound selection to an individual patient. The methods and algorithms of the invention utilize population models that incorporate genotype information for genes encoding drug metabolizing enzymes for one or more compounds of interest. The methods allow integration of genotype information for one or more genes encoding a drug metabolizing enzyme, particularly a cytochrome P450 gene with patient data. The methods allow integration of genotype information and the effect of one or more compounds on one or more drug metabolizing enzymes. The methods allow iterative feedback of drug metabolizing data obtained from a patient into the process of generating a dosage regimen recommendation for a compound of interest for an individual patient.

5. 发明申请

WO2007064675A2 OPTIMIZATION AND INDIVIDUALIZATION OF MEDICATION SELECTION AND DOSING 审中-公开
标题翻译：药物选择和剂量的优化和个体化
公开(公告)号：WO2007064675A2
公开(公告)日：2007-06-07
申请号：PCT/US2006045631
申请日：2006-11-28
申请人： CHILDRENS HOSP MEDICAL CENTER , GLAUSER TRACY A , WENSTRUP RICHARD J , VINKS ALEXANDER A , PESTIAN JOHN
发明人： GLAUSER TRACY A , WENSTRUP RICHARD J , VINKS ALEXANDER A , PESTIAN JOHN
IPC分类号： G06F19/00
CPC分类号： G06F19/3437 , C12Q1/6883 , C12Q2600/106 , G01N33/94 , G06F19/24 , G06F19/326 , G06F19/3456 , G06Q50/24 , G16H50/50
摘要： The invention provides population models, methods, and algorithms for targeting a dosing regimen or compound selection to an individual patient. The methods and algorithms of the invention utilize population models that incorporate genotype information for genes encoding drug metabolizing enzymes for one or more compounds of interest. The methods allow integration of genotype information for one or more genes encoding a drug metabolizing enzyme, particularly a cytochrome P450 gene with patient data. The methods allow integration of genotype information and the effect of one or more compounds on one or more drug metabolizing enzymes. The methods allow iterative feedback of drug metabolizing data obtained from a patient into the process of generating a dosage regimen recommendation for a compound of interest for an individual patient.
摘要翻译：本发明提供用于将给药方案或化合物选择靶向个体患者的种群模型，方法和算法。本发明的方法和算法利用对于一种或多种感兴趣的化合物编码药物代谢酶的基因的基因型信息的群体模型。该方法允许将编码药物代谢酶，特别是细胞色素P450基因的一种或多种基因的基因型信息与患者数据整合。该方法允许基因型信息的整合和一种或多种化合物对一种或多种药物代谢酶的影响。所述方法允许从患者获得的药物代谢数据的迭代反馈到针对个体患者感兴趣的化合物产生剂量方案推荐的过程。

6. 发明申请

WO2004075733A3 CONSTRUCTION OF A DEAFNESS GENE CHIP 审中-公开
标题翻译： DEAFNESS基因芯片的构建
公开(公告)号：WO2004075733A3
公开(公告)日：2004-10-21
申请号：PCT/US2004005586
申请日：2004-02-24
申请人： CHILDRENS HOSP MEDICAL CENTER , GREINWALD JOHN H JR , WENSTRUP RICHARD J , ARONOW BRUCE J , PESTIAN JOHN P
发明人： GREINWALD JOHN H JR , WENSTRUP RICHARD J , ARONOW BRUCE J , PESTIAN JOHN P
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The present invention is related to diagnostic arrays comprising primers for various regions of candidate genes involved in hearing loss, specifically pediatric hearing loss. The invention further is directed to methods for diagnosing a cause or risk factor for hearing loss. In some embodiments, these methods include obtaining a sample from a patient; screening the sample for the presence or absence of alleles of at least 5 loci associated with a risk for hearing loss to obtain a result of the screening; and making a diagnosis based upon the result. The present invention is also directed to the amplification of genetic sequence from multiple or single exons for use in the screening of samples.
摘要翻译：本发明涉及包括涉及听力损失的候选基因的各个区域的引物的诊断阵列，特别是儿科听力损失。本发明还涉及用于诊断听力损失的原因或危险因素的方法。在一些实施方案中，这些方法包括从患者获得样品; 筛选样品中存在或不存在与听力损失风险相关的至少5个位点的等位基因的存在或不存在以获得筛选结果; 并根据结果进行诊断。本发明还涉及用于筛选样品的多个或单个外显子的遗传序列的扩增。

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