KR20120107512A - 태아 이수성의 비침해성 출생전 진단을 위한 방법과 조성물 - Google Patents
태아 이수성의 비침해성 출생전 진단을 위한 방법과 조성물 Download PDFInfo
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- KR20120107512A KR20120107512A KR1020127020832A KR20127020832A KR20120107512A KR 20120107512 A KR20120107512 A KR 20120107512A KR 1020127020832 A KR1020127020832 A KR 1020127020832A KR 20127020832 A KR20127020832 A KR 20127020832A KR 20120107512 A KR20120107512 A KR 20120107512A
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- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
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- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- C12Q1/6804—Nucleic acid analysis using immunogens
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- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
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Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US29833910P | 2010-01-26 | 2010-01-26 | |
| US61/298,339 | 2010-01-26 | ||
| US40542110P | 2010-10-21 | 2010-10-21 | |
| US61/405,421 | 2010-10-21 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| KR20120107512A true KR20120107512A (ko) | 2012-10-02 |
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Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2014158001A1 (ko) | 2013-03-29 | 2014-10-02 | (주)셀트리온 | 2 이상의 인플루엔자 ａ 바이러스 중화 결합 분자를 포함하는 조성물 |
| WO2020106116A1 (ko) | 2018-11-23 | 2020-05-28 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
Families Citing this family (35)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| TWI335354B (en) | 2006-09-27 | 2011-01-01 | Univ Hong Kong Chinese | Methods for the detection of the degree of the methylation of a target dna and kits |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
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| HK1216655A1 (zh) | 2013-03-13 | 2016-11-25 | Sequenom, Inc. | 用於dna甲基化分析的引物 |
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| EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
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| EP2942401A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Detection of DNA that originates from a specific cell-type |
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| AU2017274038B2 (en) | 2016-05-30 | 2023-03-16 | The Chinese University Of Hong Kong | Detecting hematological disorders using cell-free DNA in blood |
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Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| CN1882700A (zh) * | 2003-09-22 | 2006-12-20 | 特莱索根生物科技有限合伙公司 | 用于检测基因座拷贝数改变的方法和试剂盒 |
| US20050282213A1 (en) * | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| GB0413688D0 (en) * | 2004-06-18 | 2004-07-21 | Novartis Forschungsstiftung | Analysis of methylated nucleic acid |
| EP1817430B1 (en) * | 2004-11-29 | 2009-09-16 | Klinikum der Universität Regensburg | Means and methods for detecting methylated dna |
| WO2007044780A2 (en) * | 2005-10-07 | 2007-04-19 | Emory University | Methods and systems for screening for and diagnosing dna methylation associated abnormalities and sex chromosome aneuploidies |
| US7901884B2 (en) * | 2006-05-03 | 2011-03-08 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring |
| LT2557517T (lt) * | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| JP5322471B2 (ja) * | 2008-03-27 | 2013-10-23 | シスメックス株式会社 | メチル化ｄｎａの解析方法及びプライマーセット |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
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Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2014158001A1 (ko) | 2013-03-29 | 2014-10-02 | (주)셀트리온 | 2 이상의 인플루엔자 ａ 바이러스 중화 결합 분자를 포함하는 조성물 |
| US10703802B2 (en) | 2013-03-29 | 2020-07-07 | Celltrion, Inc. | Composition comprising at least two influenza A virus-neutralizing-binding molecules |
| WO2020106116A1 (ko) | 2018-11-23 | 2020-05-28 | (주)셀트리온 | 인플루엔자 바이러스 질환을 치료하기 위한 투여 요법 |
Also Published As
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| AU2011210255B2 (en) | 2014-11-20 |
| CY1118864T1 (el) | 2018-01-10 |
| EA201290716A1 (ru) | 2013-06-28 |
| CN102892899A (zh) | 2013-01-23 |
| EA023565B1 (ru) | 2016-06-30 |
| PL2529032T3 (pl) | 2017-07-31 |
| BR112012018458A2 (pt) | 2018-07-10 |
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| CA2786174A1 (en) | 2011-08-04 |
| PT2529032T (pt) | 2017-05-04 |
| EP2529032A2 (en) | 2012-12-05 |
| SG182322A1 (en) | 2012-08-30 |
| EP2529032B1 (en) | 2017-01-25 |
| AU2011210255A1 (en) | 2012-07-26 |
| WO2011092592A3 (en) | 2011-11-03 |
| NZ601079A (en) | 2014-08-29 |
| ES2623156T3 (es) | 2017-07-10 |
| US9249462B2 (en) | 2016-02-02 |
| JP2013517789A (ja) | 2013-05-20 |
| WO2011092592A2 (en) | 2011-08-04 |
| US20120282613A1 (en) | 2012-11-08 |
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