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1. 发明授权

EP2989469B1 NON INVASIVE METHOD FOR PRENATAL DIAGNOSIS 有权
标题翻译：非侵入性初步诊断方法
公开(公告)号：EP2989469B1
公开(公告)日：2017-06-21
申请号：EP14728460.8
申请日：2014-04-24
申请人： Fondazione IRCCS "CA' GRANDA - OSPEDALE MAGGIORE POLICLINICO"
发明人： LATTUADA, Debora
IPC分类号： G01N33/80
CPC分类号： G01N33/80 , C12Q1/6879 , G01N2400/40 , G01N2800/385

2. 发明授权

EP2850430B1 ANALYSIS OF A PANEL OF CEREBROTENDINOUS XANTHOMATOSIS BIOMARKERS USING SITE SPECIFIC DERIVATION AND LC/MS/MS WORKFLOW 有权
标题翻译：用局部特异性衍生物和LC / MS / MS工作流程分析一组脑脊液生物标志物
公开(公告)号：EP2850430B1
公开(公告)日：2017-04-19
申请号：EP13791312.5
申请日：2013-05-17
申请人： DH Technologies Development Pte. Ltd. , Oregon Health & 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

3. 发明公开

EP2989469A2 NON INVASIVE METHOD FOR PRENATAL DIAGNOSIS 有权
标题翻译：认罪VERFAHRENFÜRPRÄNATALEDIAGNOSE
公开(公告)号：EP2989469A2
公开(公告)日：2016-03-02
申请号：EP14728460.8
申请日：2014-04-24
申请人： Fondazione IRCCS "CA' GRANDA - OSPEDALE MAGGIORE POLICLINICO"
发明人： LATTUADA, Debora
IPC分类号： G01N33/80
CPC分类号： G01N33/80 , C12Q1/6879 , G01N2400/40 , G01N2800/385
摘要： The invention pertains to a method which allows separation of nucleated fetal cells, particularly fetal erythroblasts, from maternal peripheral blood. More specifically the invention relates to a non-invasive method which can isolate and provide intact nucleated fetal cells, and is useful for subsequent chromosome, gene expression and protein investigations, and is feasible at all gestational ages.
摘要翻译：本发明涉及允许有形胎儿细胞，特别是胎儿成红细胞从母体外周血分离的方法。更具体地说，本发明涉及可以分离和提供完整的成核胎儿细胞的非侵入性方法，并且可用于随后的染色体，基因表达和蛋白质调查，并且在妊娠年龄是可行的。

4. 发明公开

EP2824191A2 Means and methods for non-invasive diagnosis of chromosomal aneuploidy 审中-公开
标题翻译：用于非侵入性诊断染色体非整倍性的手段和方法
公开(公告)号：EP2824191A2
公开(公告)日：2015-01-14
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）选择并分离所述生物样品中的一种或多种包含的DNA分子的靶标序列在生物样品中，其中所述靶序列包含具有共有核小体结合区的DNA序列; b）扩增所述选择的靶序列; c）对所述扩增的选择的靶序列进行测序并将它们分配到基因组的染色体并鉴定独特的分配的靶序列; d）确定基于源自所述一个或多个第一染色体的所述独特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独特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; 和f）基于所述第一和第二量确定染色体变异。

5. 发明公开

EP2776059A2 PHARMACEUTICAL COMPOSITIONS CONTAINING PROTEASES AND METHODS FOR THE TREATMENT OF LYSOSOMAL STORAGE DISEASES 审中-公开
标题翻译：药物组合物有用于溶酶体贮积病的治疗蛋白酶和方法
公开(公告)号：EP2776059A2
公开(公告)日：2014-09-17
申请号：EP12796468.2
申请日：2012-06-08
申请人： Prothera, Inc.
发明人： OLMSTEAD, Stephen, F.
IPC分类号： A61K38/48 , A61P3/00 , A61P25/16 , C12Q1/37 , A23L1/305
CPC分类号： A61K35/744 , A23L33/10 , A23V2002/00 , A61K9/0053 , A61K9/0056 , A61K35/745 , A61K35/747 , A61K36/062 , A61K38/4813 , A61K45/06 , C12Q1/37 , C12Y304/14005 , G01N2800/385 , Y02A50/473
摘要： The invention provides a method and compositions for treating a subject with a lysosomal storage disease such as gaucher disease, by administering to a subject with a lysosomal storage disease a therapeutically effective amount of composition comprising at least one of a protease or peptidase in an amount sufficient to ameliorate, reduce or improve at least one symptom of the disease. The invention also provides dietary supplements for subjects having lysosomal storage diseases.

6. 发明公开

EP2742150A1 A METHOD OF ANALYSING A BLOOD SAMPLE OF A SUBJECT FOR THE PRESENCE OF A FOETAL DISEASE OR CONDITION MARKER 审中-公开
标题翻译： VERFAHREN ZUR ANALYZE EINER BLUTPROBE EINER人员AUF FETALE ERKRANKUNGS-ODER ZUSTANDSMARKER
公开(公告)号：EP2742150A1
公开(公告)日：2014-06-18
申请号：EP12748272.7
申请日：2012-08-08
申请人： Vereniging voor Christelijk Hoger Onderwijs, Wetenschappelijk Onderzoek en Patiëntenzorg
发明人： WÜRDINGER, Thomas , NILSSON, Rolf Jonas
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6879 , C12Q2600/156 , C12Q2600/158 , G01N33/5023 , G01N33/689 , G01N33/86 , G01N2800/368 , G01N2800/385
摘要： The present invention relates to a method of analysing a blood sample of a subject carrying a foetus for the presence of a foetal disease or condition marker, said method comprising the steps of a) extracting nucleic acid from anucleated blood cells, preferably thrombocytes, in said blood sample to provide an anucleated blood cell-extracted nucleic acid fraction, and b) analysing said anucleated blood cell-extracted nucleic acid fraction for the presence of a foetal disease or condition marker, wherein said foetal disease or condition marker is a nucleic acid of a foetus, or wherein said foetal disease or condition marker is a foetal disease or condition-specific expression profile of genes of a cell of said foetus.
摘要翻译：本发明涉及一种分析携带胎儿的患者胎儿疾病或病况标志物存在的血液样本的方法，所述方法包括以下步骤：a）从所述的免疫细胞中提取核酸，优选血细胞，血液样品以提供无核细胞提取的核酸级分，以及b）分析所述无核细胞提取的核酸级分是否存在胎儿疾病或病症标志物，其中所述胎儿疾病或病症标志物是胎儿，或其中所述胎儿疾病或病症标记是胎儿疾病或所述胎儿的细胞的基因的条件特异性表达谱。

7. 发明公开

EP2678675A1 METHODS OF DETECTING ANEUPLOIDY IN HUMAN EMBRYOS 有权转让
标题翻译：方法人胚胎非整倍体检测
公开(公告)号：EP2678675A1
公开(公告)日：2014-01-01
申请号：EP12749372.4
申请日：2012-02-23
申请人： The Board Of Trustees Of The University Of the Leland Stanford Junior University
发明人： CHAVEZ, Shawn L. , LOEWKE, Kevin E. , BEHR, Barry , REIJO PERA, Renee A.
IPC分类号： G01N33/48 , A61K35/48 , A61K35/54
CPC分类号： C12Q1/68 , C12Q1/6876 , C12Q2600/158 , G01N2800/385 , G01N2800/387
摘要： Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and/or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

8. 发明公开

EP2478119A4 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：方法和组合物甲基化基础的浓缩胎儿核酸从母体探头非侵入性产前诊断
公开(公告)号：EP2478119A4
公开(公告)日：2013-01-23
申请号：EP10817598
申请日：2010-03-18
申请人： SEQUENOM INC , SEQUENOM CT FOR MOLECULAR MEDICINE
发明人： EHRICH MATHIAS , NYGREN ANDERS OLOF HERMAN , JENSEN TAYLOR JACOB
IPC分类号： C12Q1/68 , C12N15/10 , C12N15/117
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

9. 发明公开

EP2282210A1 Embryo quality assessment based on blastomere division and movement 无效
标题翻译： Embryonenqualitätsbeurteilungauf der Grundlage von Blastomerenteilung und Bewegung
公开(公告)号：EP2282210A1
公开(公告)日：2011-02-09
申请号：EP10172399.7
申请日：2007-06-15
申请人： UNISENSE FERTILITECH A/S
发明人： Ramsing, Niels B. , Berntsen, Jørgen
IPC分类号： G01N33/68
CPC分类号： C12Q1/02 , A61B17/435 , C12M21/06 , C12M41/46 , C12M41/48 , C12N5/0604 , G01N33/689 , G01N2800/385
摘要： The invention concerns a system and method for determining embryo quality comprising monitoring the embryo for a time period, said time period having a length sufficient to comprise at least one cell division period and at least a part of an inter-division period, and determining the length of the at least one cell division period; and/or ii) determining the extent and/or spatial distribution of cellular or organelle movement during the cell division period; and/or iii) determining duration of an inter-division period; and/or iv) determining the extent and/or spatial distribution of cellular or organelle movement during the inter-division period thereby obtaining an embryo quality measure. Thus, the selection of optimal embryos to be implanted after in vitro fertilization (IVF) is facilitated based on the timing, duration, spatial distribution, and extent of observed cell divisions and associated cellular and organelle movement.
摘要翻译：本发明涉及一种用于确定胚胎质量的系统和方法，包括在一段时间内监测胚胎，所述时间段具有足以包括至少一个细胞分裂期和至少部分分期间的长度，并且确定至少一个细胞分裂期的长度; 和/或ii）确定细胞分裂期间细胞或细胞器运动的程度和/或空间分布; 和/或iii）确定分隔期的持续时间; 和/或iv）在分隔期间确定细胞或细胞器运动的程度和/或空间分布，由此获得胚胎质量测量。因此，基于观察到的细胞分裂的时间，持续时间，空间分布和程度以及相关的细胞和细胞器运动，便于在体外受精（IVF）后植入最佳胚胎的选择。

10. 发明公开

EP2281044A1 OLIGONUKLEOTIDE ZUR HEMMUNG UND ZUM NACHWEIS VON HUMANEN ARGONAUTE-PROTEINEN 有权
标题翻译：寡核苷酸抑制和为人类Argonaute蛋白的检测
公开(公告)号：EP2281044A1
公开(公告)日：2011-02-09
申请号：EP10721004.9
申请日：2010-05-19
申请人： Universitätsklinikum Schleswig-Holstein Campus Lübeck
发明人： SCZAKIEL, Georg , MESCALCHIN, Alessandra , DETZER, Anke , ENGEL, Christina , WEIRAUCH, Ulrike , EROGULLARI, Alev
IPC分类号： C12N15/11
CPC分类号： A61K31/713 , C12N15/113 , C12N2310/11 , C12N2310/315 , G01N33/574 , G01N33/57415 , G01N2800/22 , G01N2800/2835 , G01N2800/36 , G01N2800/385
摘要： The invention relates to oligonucleotides that can specifically hybridise with mRNAs that code for argonaute proteins. Said oligonucleotides can inhibit the expression of argonaute proteins and can identify argonaute mRNA. The invention also relates to pharmaceutical compositions that contain these oligonucleotides, to methods for the specific inhibition of the expression of argonaute proteins and for the identification of argonaute mRNA, and to the use of said oligonucleotides for inhibiting the expression of argonaute proteins in a cell.

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