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51. 发明公开

EP2700717A1 Method for the diagnosis of lysosomal storage diseases 有权转让
标题翻译： Verfahren zur诊断lysomaler Speicherkrankheiten
公开(公告)号：EP2700717A1
公开(公告)日：2014-02-26
申请号：EP12005989.4
申请日：2012-08-22
申请人： Universität Konstanz
发明人： Maeser, Stefan , Przybylski, Michael, Prof. , Cozma, Claudia
IPC分类号： C12Q1/25 , G01N33/68 , C12Q1/34 , G01N33/58 , C07H17/075
CPC分类号： C07H17/075 , C12Q1/34 , G01N33/582 , G01N33/6893 , G01N2560/00 , G01N2800/04 , G01N2800/385
摘要： The present invention relates to a method for the diagnosis of a lysosomal storage disease (LSD) in a subject which is based on determining the activity of lysosomal enzymes with the help of 4-alkyl umbelliferyl derivatives. The present invention further relates to said 4-alkyl umbelliferyl derivatives for use in the diagnosis of an LSD, and a kit for the diagnosis of an LSD.
摘要翻译：本发明涉及一种用于诊断受试者中溶酶体贮积病（LSD）的方法，其基于4-烷基伞形酮衍生物的帮助来测定溶酶体酶的活性。本发明还涉及用于诊断LSD的所述4-烷基伞形酮衍生物，以及用于诊断LSD的试剂盒。

52. 发明公开

EP2494065A1 MEANS AND METHODS FOR NON-INVASIVE DIAGNOSIS OF CHROMOSOMAL ANEUPLOIDY 有权
标题翻译： AGENT AND METHOD FOR染色体非整倍的非侵入性诊断
公开(公告)号：EP2494065A1
公开(公告)日：2012-09-05
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.

53. 发明公开

EP2125036A1 FORMATION AND REJUVENATION OF ORGANS AND ALCOHOL DAMAGED ORGAN REGENERATION THROUGH STEM CELL NUTRIENTS 审中-公开
标题翻译：干细胞养分受损教育和再生器官和再生酒精有关机关
公开(公告)号：EP2125036A1
公开(公告)日：2009-12-02
申请号：EP07862680.1
申请日：2007-12-10
申请人： Li, Yin-Xiong
发明人： Li, Yin-Xiong
IPC分类号： A61K49/00
CPC分类号： G01N33/98 , A61K31/575 , G01N33/94 , G01N2800/085 , G01N2800/385
摘要： Mechanisms nourish stem cells for organ regeneration and prevent alcohol related diseases such as Fetal Alcohol Syndrome (FAS) and Liver Sclerosis. These stem cell nutrients have been found to positively affect the skin, liver, brain neurons, pancreas, and the Gl tract. Cholesterol supplementation prevents fetal alcohol spectrum defects (FASD) in alcohol-exposed zebra fish embryos. Using the zebra fish model, alcohol was found to interfere with embryonic development by disrupting cholesterol-dependent activation of a critical signaling molecule, sonic hedgehog (Shh). Cholesterol supplementation of the alcohol-exposed embryos restored the functionality of the molecular pathway and prevented development of FASD-like defects. Novel biomarkers were identified for diagnosing alcohol related diseases by lipid chemical analysis and Raman Spectroscope.

54. 发明公开

EP1901074A1 Adam12 as marker for fetal Turner Syndrome 有权
标题翻译： Adam12 als Markerfürdas Turner-Syndrom beimFötus
公开(公告)号：EP1901074A1
公开(公告)日：2008-03-19
申请号：EP07122125.3
申请日：2005-05-18
申请人： Kobenhavns 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
摘要： The present invention provides a method and an assay for providing an indication of fetal Tuner Syndrome..
The present inventors for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester.
It is an object of the invention to provide an improvement of the existing marker tests that exhibits a decreased false positive rate.
摘要翻译：本发明提供了一种用于提供胎儿调谐器综合征的指征的方法和测定。本发明人首次证明ADAM12是胎儿染色体疾病和胎盘功能的重要指标。具体地说，ADAM12是例如，唐氏综合征，18三体，先兆子痫，特纳综合征在第一和第二个三个月。本发明的一个目的是提供现有的标记测试的改进，其显示出降低的假阳性率。

55. 发明公开

EP1687640A2 ADAM12, A NOVEL MARKER FOR ABNORMAL CELL FUNCTION 审中-公开
标题翻译： ADAM12，一个新的标志物异常细胞功能
公开(公告)号：EP1687640A2
公开(公告)日：2006-08-09
申请号：EP05739600.4
申请日：2005-05-18
申请人： Kobenhavns Universitet , Statens Serum Institut , Harold Wood Lane 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
摘要： The present invention provides a method, an assay and a kit for proving an indication of abnormal cell function. It was surprisingly found that the change in the serum ADAM12 concentration in individuals was useful as a prognostic tool to predict the clinical outcome, complications and mortality following an abnormal cell function. The present inventors describes ADAM12 as a overall general marker for abnormal cell function, and the present inventor for the first time demonstrate that ADAM12 is an important indicator of fetal chromosomal disease and placenta function. Specifically ADAM12 is a good marker for e.g. Downs's syndrome, trisomy 18, preeclampsia, Turner syndrome in both first and second trimester. The present inventors developed an enzyme-linked immunosorbent assay (ELISA) and a time-resolved immunofluorometric assay for the quantification of ADAM12 in serum.

56. 发明授权

EP1188060B1 METHOD AND APPARATUS FOR PRESENTING THROMBOSIS AND HEMOSTASIS ASSAY DATA 有权
标题翻译：方法和设备，用于呈现血栓形成和HAEMOSTASEASSAYS数据
公开(公告)号：EP1188060B1
公开(公告)日：2006-05-31
申请号：EP00947001.4
申请日：2000-06-30
申请人： bioMérieux, Inc.
发明人： GIVENS, Thomas, B. , BRAUN, Paul , BECK, Lisa
IPC分类号： G06F19/00
CPC分类号： G01N33/4905 , G01N33/86 , G01N2800/226 , G01N2800/385 , G06F19/00 , G06F19/324 , G16H10/40 , G16H10/60 , G16H50/20
摘要： A method for presenting relationships between data from a thrombosis-hemostasis assay on an unknown sample and data from a purality of assays on known samples, which can be in the form of a topological feature map wherein spatial locations within the map correspond to intrinsic features of the known samples. The position of the unknown sample is superimposed on the positions of the known samples. An alternative presentation is showing the distance of each of a purality of predictor variables from an unknown sample to the mean values of a known population.

57. 发明公开

EP1188060A4 METHOD AND APPARATUS FOR PRESENTING THROMBOSIS AND HEMOSTASIS ASSAY DATA 有权
标题翻译：方法和设备，用于呈现血栓形成和HAEMOSTASEASSAYS数据
公开(公告)号：EP1188060A4
公开(公告)日：2005-04-13
申请号：EP00947001
申请日：2000-06-30
申请人： BIO MERIEUX INC
发明人： GIVENS THOMAS B , BRAUN PAUL , BECK LISA
IPC分类号： G01N33/86 , G01N33/49 , G01N33/68 , G06F19/00
CPC分类号： G01N33/4905 , G01N33/86 , G01N2800/226 , G01N2800/385 , G06F19/324 , G16H10/40 , G16H10/60 , G16H50/20
摘要： A method for presenting relationships between data from a thrombosis-hemostasis assay on an unknown sample and data from a purality of assays on known samples, which can be in the form of a topological feature map wherein spatial locations within the map correspond to intrinsic features of the known samples. The position of the unknown sample is superimposed on the positions of the known samples. An alternative presentation is showing the distance of each of a purality of predictor variables from an unknown sample to the mean values of a known population.

58. 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。

59. 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

60. 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。

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