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1. 发明公开

EP3073914A4 METABOLOMIC PREDICTION OF CONGENITAL HEART DEFECT DURING PREGNANCY, NEWBORN AND PEDIATRIC STAGES 有权转让
标题翻译：代谢组织促进剂
公开(公告)号：EP3073914A4
公开(公告)日：2017-10-04
申请号：EP14865429
申请日：2014-11-25
申请人： BIOSCREENING AND DIAGNOSTICS LLC , KING'S COLLEGE HOSPITAL NHS FOUND TRUST
发明人： BAHADO-SINGH RAY , NICOLAIDES KYPROS
IPC分类号： G01R33/465 , A61B5/00 , A61B5/055 , A61K31/197 , G01N27/62 , G01N33/68 , G01R33/46
CPC分类号： A61B5/055 , A61B5/4343 , A61B8/0866 , A61B2503/045 , G01N33/6893 , G01N2560/00 , G01N2800/32 , G01N2800/385 , G01R33/4625 , G01R33/465
摘要： Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus.
摘要翻译：本发明的具体方面是使用核磁共振和直接流动注射质谱法测定怀孕期间来自患者的样品中的代谢物水平的方法。在各种方法中，测定的代谢物可以是酰基肉碱或C3-OH（羟基丙酰肉碱），C5-OH（C3DC），C10，C5：1-DC（戊烯二酰肉碱），C14：1-OH（羟基十四碳烯酰肉碱）和C14 ：2-OH。一种或多种方法也可以包括测量胎儿的颈部半透明度。其他方法涉及预测胎儿中的胎儿先天性心脏缺陷。

2. 发明公开

EP2850430A4 ANALYSIS OF A PANEL OF CEREBROTENDINOUS XANTHOMATOSIS BIOMARKERS USING SITE SPECIFIC DERIVATION AND LC/MS/MS WORKFLOW 有权
标题翻译：利用特异性衍生和LC / MS / MS方法分析一系列脑源性黄色症的生物标志物
公开(公告)号：EP2850430A4
公开(公告)日：2016-02-10
申请号：EP13791312
申请日：2013-05-17
申请人： DH TECHNOLOGIES DEV PTE LTD , UNIV OREGON HEALTH & SCIENCE
发明人： DEBARBER ANDREA , PURKAYASTHA SUBHASISH , STEINER ROBERT D , WEINSTOCK MICHAL
IPC分类号： G01N33/50 , G01N33/48
CPC分类号： G01N33/92 , G01N33/58 , G01N33/6848 , G01N33/6893 , G01N2333/90251 , G01N2400/00 , G01N2800/04 , G01N2800/065 , G01N2800/385 , H01J49/0031

3. 发明授权

EP2494065B1 MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY 有权
标题翻译： MITTEL UND VERFAHRENFÜRNICHT-INVASIVE DIAGNOSE VON CHROMOSOMALER ANEUPLOIDIE
公开(公告)号：EP2494065B1
公开(公告)日：2015-12-23
申请号：EP10768959.8
申请日：2010-10-26
申请人： Lifecodexx AG
发明人： BENZ, Marcus , HOFMANN, Wera , POHL, Thomas , VON KALLE, Christoph
IPC分类号： C12Q1/68
CPC分类号： G01N33/574 , C12Q1/6806 , C12Q1/6851 , G01N2800/368 , G01N2800/385 , G06F19/22 , C12Q2525/107 , C12Q2525/121 , C12Q2537/157 , C12Q2545/101
摘要： The invention relates to a prenatal diagnostic method for the determination of a chromosomal aberration in a biological sample obtained from an individual, the method comprising: a) selecting for and isolating from said biological sample of an individual one or more target sequences of DNA molecules contained in the biological sample, wherein said target sequences comprise DNA sequences having consensus nucleosome binding regions; b)amplifying said selected target sequences; c) sequencing said amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences; d) determining a first amount for each of one or more first chromosomes identified on the basis of said unique allotted target sequences originating from said one or more first chromosomes; e) determining a second amount for each of one or more second chromosomes identified on the basis of said unique allotted target sequences originating from said one or more second chromosomes; and f) determining based on the said first and second amount a chromosomal abberation.
摘要翻译：本发明涉及一种用于确定从个体获得的生物样品中的染色体畸变的产前诊断方法，所述方法包括：a）从所述生物样品中选择和分离一个或多个包含的DNA分子的一个或多个靶序列在所述生物样品中，其中所述靶序列包含具有共有核小体结合区域的DNA序列; b）扩增所选择的靶序列; c）对所述扩增的选定靶序列进行测序并将其分配给基因组的染色体并鉴定唯一分配的靶序列; d）确定基于源自所述一个或多个第一染色体的所述唯一分配的靶序列鉴定的一个或多个第一染色体中的每一个的第一量; e）确定基于源自所述一个或多个第二染色体的所述唯一分配的靶序列鉴定的一个或多个第二染色体中的每一个的第二量; 以及f）基于所述第一和第二量确定染色体异常。

4. 发明授权

EP2229452B1 Method for aiding the diagnosis of a disorder 有权转让
标题翻译：一种用于在疾病的诊断辅助方法
公开(公告)号：EP2229452B1
公开(公告)日：2015-07-29
申请号：EP08856248.3
申请日：2008-12-05
申请人： KING'S COLLEGE LONDON , Guy's And St Thomas' Nhs Foundation Trust
发明人： TURNER, Charles , DALTON, Raymond, Neil
IPC分类号： G01N33/68 , G01N33/72
CPC分类号： G01N33/6848 , G01N33/6812 , G01N33/721 , G01N2800/04 , G01N2800/385

5. 发明公开

EP2850430A1 ANALYSIS OF A PANEL OF CEREBROTENDINOUS XANTHOMATOSIS BIOMARKERS USING SITE SPECIFIC DERIVATION AND LC/MS/MS WORKFLOW 有权
标题翻译：由点ZEREBROTENDINÖSERcholesterosis的生物标记组的分析铅和SPECIFIC LC / MS / MS DRAIN
公开(公告)号：EP2850430A1
公开(公告)日：2015-03-25
申请号：EP13791312.5
申请日：2013-05-17
申请人： DH Technologies Development Pte. Ltd. , Oregon Health and Science University
发明人： DEBARBER, Andrea , PURKAYASTHA, Subhasish , STEINER, Robert, D. , WEINSTOCK, Michal
IPC分类号： G01N33/50 , G01N33/48
CPC分类号： G01N33/92 , G01N33/58 , G01N33/6848 , G01N33/6893 , G01N2333/90251 , G01N2400/00 , G01N2800/04 , G01N2800/065 , G01N2800/385 , H01J49/0031
摘要： A method, a labeling reagent, sets of labeling reagents, and labeling techniques are provided for the analysis of ketosterol biomarkers such as bile acid precursors from human plasma, serum or whole blood. This method is used for new born screening for Cerebrotendinous Xanthomatosis (CTX). Methods for labeling, analyzing, and quantifying ketosterol biomarkers are also disclosed as are methods that also use mass spectrometry.

6. 发明公开

EP2824191A3 Means and methods for non-invasive diagnosis of chromosomal aneuploidy 审中-公开
标题翻译： Mittel und Verfahren zur nichtinvasiven诊断von染色体非整倍体
公开(公告)号：EP2824191A3
公开(公告)日：2015-02-18
申请号：EP14183913.4
申请日：2010-10-26
申请人： Lifecodexx AG
发明人： Benz, Marcus , Hofmann, Wera , Pohl, Thomas , Von Kalle, Christoph
IPC分类号： C12Q1/68
CPC分类号： G01N33/574 , C12Q1/6806 , C12Q1/6851 , G01N2800/368 , G01N2800/385 , G06F19/22 , C12Q2525/107 , C12Q2525/121 , C12Q2537/157 , C12Q2545/101
摘要： The invention relates to a prenatal diagnostic method for the determination of a chromosomal aberration in a biological sample obtained from an individual, the method comprising: a) selecting for and isolating from said biological sample of an individual one or more target sequences of DNA molecules contained in the biological sample, wherein said target sequences comprise DNA sequences having consensus nucleosome binding regions; b)amplifying said selected target sequences; c) sequencing said amplified selected target sequences and allotting them to the chromosomes of the genome and identifying the unique allotted target sequences; d) determining a first amount for each of one or more first chromosomes identified on the basis of said unique allotted target sequences originating from said one or more first chromosomes; e) determining a second amount for each of one or more second chromosomes identified on the basis of said unique allotted target sequences originating from said one or more second chromosomes; and f) determining based on the said first and second amount a chromosomal abberation.
摘要翻译：本发明涉及一种用于确定从个体获得的生物样品中的染色体畸变的产前诊断方法，所述方法包括：a）从所述生物样品中选择和分离一个或多个包含的DNA分子的一个或多个靶序列在所述生物样品中，其中所述靶序列包含具有共有核小体结合区域的DNA序列; b）扩增所选择的靶序列; c）对所述扩增的选定靶序列进行测序并将其分配给基因组的染色体并鉴定唯一分配的靶序列; d）确定基于源自所述一个或多个第一染色体的所述唯一分配的靶序列鉴定的一个或多个第一染色体中的每一个的第一量; e）确定基于源自所述一个或多个第二染色体的所述唯一分配的靶序列鉴定的一个或多个第二染色体中的每一个的第二量; 以及f）基于所述第一和第二量确定染色体异常。

7. 发明公开

EP2678692A2 SOLID SUPPORT AND METHOD OF ENHANCING THE RECOVERY OF BIOLOGICAL MATERIAL THEREFROM 有权转让
标题翻译：固体载体和方法用于其提高生物学材料的回收率
公开(公告)号：EP2678692A2
公开(公告)日：2014-01-01
申请号：EP12705857.6
申请日：2012-02-24
申请人： GE Healthcare UK Limited
发明人： HORTON, Jeffrey, Kenneth , TATNELL, Peter, James , STUBBS, Simon, Laurence, John
IPC分类号： G01N33/96 , C08L51/06
CPC分类号： G01N1/36 , G01N33/54393 , G01N33/544 , G01N2800/04 , G01N2800/385
摘要： The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

8. 发明公开

EP2432489A4 VARIANTS OF C-TYPE NATRIURETIC PEPTIDE 有权
标题翻译：变异利钠肽C型
公开(公告)号：EP2432489A4
公开(公告)日：2013-04-03
申请号：EP10778389
申请日：2010-05-20
申请人： BIOMARIN PHARM INC
发明人： WENDT DANIEL J , AOYAGI-SCHARBER MIKA , LONG SHINONG , VELLARD MICHEL CLAUDE , CASTILLO SIANNA , OKHAMAFE AUGUSTUS O , PRICE CHRISTOPHER P
IPC分类号： A61K38/16 , A61K38/00 , A61K38/10 , A61K47/48 , A61K49/00 , A61P9/00 , A61P9/12 , A61P13/12 , A61P19/00 , C07K7/00 , C07K14/00 , C07K14/58 , C12N1/21 , C12P21/06 , C12Q1/42 , G01N33/53 , G01N33/68
CPC分类号： C07K14/58 , A61K9/08 , A61K38/00 , A61K38/22 , A61K38/2242 , A61K47/10 , A61K47/20 , A61K47/22 , A61K47/26 , A61K47/60 , G01N2333/58 , G01N2800/10 , G01N2800/105 , G01N2800/385 , G01N2800/52

9. 发明公开

EP2478119A1 PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON INVASIVE PRENATAL DIAGNOSES 有权转让
标题翻译：用于非侵入性早期诊断的母体样品中甲基化富集胎儿核酸的方法和组合物
公开(公告)号：EP2478119A1
公开(公告)日：2012-07-25
申请号：EP10817598.5
申请日：2010-03-18
申请人： Sequenom, Inc. , Sequenom Center For Molecular Medicine
发明人： EHRICH, Mathias , NYGREN, Anders, Olof Herman , JENSEN, Taylor, Jacob
IPC分类号： C12Q1/68 , C12N15/117 , C12N15/10
CPC分类号： C12Q1/6883 , C12Q1/6804 , C12Q1/6806 , C12Q1/6809 , C12Q1/6879 , C12Q1/6888 , C12Q2600/154 , G01N33/5308 , G01N2800/385 , C12Q2537/164 , C12Q2522/101 , C12Q2565/501
摘要： Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.
摘要翻译：提供了利用母体与其胎儿之间差异甲基化的基因组区域分离，分离或富集胎儿核酸与母体样品的组合物和方法。本文所述的组合物和方法特别适用于无创性产前诊断，包括检测染色体非体型。

10. 发明授权

EP1901074B1 Adam12 as marker for fetal Turner Syndrome 有权
标题翻译： ADAM12作为在胎儿Turner综合征的标记物
公开(公告)号：EP1901074B1
公开(公告)日：2011-07-27
申请号：EP07122125.3
申请日：2005-05-18
申请人： Københavns Universitet , Statens Serum Institut , Harold Wood Hospital
发明人： Wewer, Ulla M. , Christiansen, Michael , Frölich, Camilla , Laigaard, Jennie , Nørgaard-Pedersen, Bent , Spencer, Kevin
IPC分类号： G01N33/68 , C12Q1/68
CPC分类号： G01N33/689 , G01N2333/4745 , G01N2333/96486 , G01N2800/36 , G01N2800/368 , G01N2800/385 , G01N2800/387 , Y10T436/143333

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