JP4418587B2 - 言語取得前非症候性難聴に関与するコネキシン２６遺伝子内の変異および検出法 - Google Patents

言語取得前非症候性難聴に関与するコネキシン２６遺伝子内の変異および検出法 Download PDF

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JP4418587B2
JP4418587B2 JP2000509871A JP2000509871A JP4418587B2 JP 4418587 B2 JP4418587 B2 JP 4418587B2 JP 2000509871 A JP2000509871 A JP 2000509871A JP 2000509871 A JP2000509871 A JP 2000509871A JP 4418587 B2 JP4418587 B2 JP 4418587B2
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seq
connexin
deletion
gene
dna
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JP2001514904A5 (enExample
JP2001514904A (ja
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プティ，クリスティーヌ
デノイェル−グリソン，フランソワーズ
ウェイル，ドミニーク
マルラン−デュベルノワ，サンドリーヌ
グードン，ジャン−ルーク
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Institut Pasteur
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    • C—CHEMISTRY; METALLURGY
    • 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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • 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
    • C—CHEMISTRY; METALLURGY
    • 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
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
JP2000509871A 1997-08-15 1998-08-14 言語取得前非症候性難聴に関与するコネキシン２６遺伝子内の変異および検出法 Expired - Lifetime JP4418587B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US5586397P 1997-08-15 1997-08-15
US055,863 1997-08-15
PCT/EP1998/005175 WO1999009210A2 (en) 1997-08-15 1998-08-14 Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection

Publications (3)

Publication Number Publication Date
JP2001514904A JP2001514904A (ja) 2001-09-18
JP2001514904A5 JP2001514904A5 (enExample) 2006-01-05
JP4418587B2 true JP4418587B2 (ja) 2010-02-17

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JP2000509871A Expired - Lifetime JP4418587B2 (ja) 1997-08-15 1998-08-14 言語取得前非症候性難聴に関与するコネキシン２６遺伝子内の変異および検出法

Country Status (11)

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US (7) US5998147A (enExample)
EP (1) EP1003865B1 (enExample)
JP (1) JP4418587B2 (enExample)
AT (1) ATE399860T1 (enExample)
CA (3) CA2852463C (enExample)
CY (1) CY1108771T1 (enExample)
DE (1) DE69839671D1 (enExample)
DK (1) DK1003865T3 (enExample)
ES (1) ES2308813T3 (enExample)
PT (1) PT1003865E (enExample)
WO (1) WO1999009210A2 (enExample)

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ATE399860T1 (de) * 1997-08-15 2008-07-15 Pasteur Institut Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren
US6013449A (en) * 1997-11-26 2000-01-11 The United States Of America As Represented By The Department Of Health And Human Services Probe-based analysis of heterozygous mutations using two-color labelling
WO2002061410A1 (en) * 2000-09-01 2002-08-08 Spectrumedix Corporation System and method for temperature gradient capillary electrophoresis
WO2002031199A1 (en) * 2000-10-11 2002-04-18 Spectrumedix Corporation System and method for determining the presence of methylated cytosines in polynucleotides
JP2005504534A (ja) 2001-09-19 2005-02-17 アメリカ合衆国政府 トランスダクチン−１及びトランスダクチン−２並びに遺伝性聴覚障害への適用
WO2003033743A1 (en) * 2001-10-18 2003-04-24 Spectrumedix Corporation System and method for temperature gradient capillary electrophoresis
NL1019226C2 (nl) * 2001-10-25 2003-04-28 Multigen Holding S A Werkwijze voor het detecteren van een mutatie die verband houdt met plaveiselcelcarcinoom.
EP1308458A1 (en) * 2001-10-30 2003-05-07 GenOdyssee New polynucleotides and polypeptides of the CX26 gene
US6872530B2 (en) * 2002-04-24 2005-03-29 Spectrumedix, Llc Method for determining the presence of DNA variants using peptide nucleic acid probes
AU2003253922A1 (en) * 2002-07-15 2004-02-02 Spectrumedix Llc System and method for determining known dna variants with temperature gradient electrophoresis
WO2004007690A2 (en) * 2002-07-16 2004-01-22 Spectrumedix Llc Method and system for comparative genomics for organisms using temperature gradient electrophoresis
AU2002952702A0 (en) * 2002-11-18 2002-11-28 Murdoch Childrens Research Institute A diagnostic assay
US7700750B2 (en) * 2003-01-09 2010-04-20 Third Wave Technologies, Inc. Connexin allele detection assays
US20040166495A1 (en) * 2003-02-24 2004-08-26 Greinwald John H. Microarray-based diagnosis of pediatric hearing impairment-construction of a deafness gene chip
US7303879B2 (en) * 2003-07-31 2007-12-04 Applera Corporation Determination of SNP allelic frequencies using temperature gradient electrophoresis
US7166433B2 (en) 2004-03-03 2007-01-23 The United States Of America As Represented By The Department Of Health And Human Services Transductin-1 and transductin-2 and applications to hereditary deafness
US7276804B2 (en) * 2005-06-22 2007-10-02 C.E. Niehoff & Co. Voltage regulator with improved protection and warning system
US20070134691A1 (en) * 2005-11-21 2007-06-14 Iris Schrijver Methods and compositions for determining whether a subject carries a gene mutation associated with hereditary hearing loss
CA3141309A1 (en) * 2019-05-22 2020-11-26 Regeneron Pharmaceuticals, Inc. Synaptojanin 2 (synj2) variants and uses thereof

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US4228805A (en) 1978-11-08 1980-10-21 Rca Corporation Method of measuring blood perfusion
US4709703A (en) 1985-11-12 1987-12-01 Mayo Foundation Imaging system and method using radiopaque microspheres for evaluation of organ tissue perfusion
US5480382A (en) 1989-01-09 1996-01-02 Pilot Cardiovascular Systems, Inc. Steerable medical device
US5552541A (en) * 1990-06-20 1996-09-03 Beckman Instruments, Inc. Haptenic probes for detecting capture polynucleotides
US5190050A (en) 1991-11-08 1993-03-02 Electro-Catheter Corporation Tip deflectable steerable catheter
US5312415A (en) 1992-09-22 1994-05-17 Target Therapeutics, Inc. Assembly for placement of embolic coils using frictional placement
US6165139A (en) 1993-03-01 2000-12-26 Fonar Corporation Remotely steerable guide wire with external control wires
US5769796A (en) 1993-05-11 1998-06-23 Target Therapeutics, Inc. Super-elastic composite guidewire
US5358479A (en) 1993-12-06 1994-10-25 Electro-Catheter Corporation Multiform twistable tip deflectable catheter
US5661122A (en) 1994-04-15 1997-08-26 Genentech, Inc. Treatment of congestive heart failure
US5814062A (en) 1994-12-22 1998-09-29 Target Therapeutics, Inc. Implant delivery assembly with expandable coupling/decoupling mechanism
EP0725136A1 (en) * 1995-02-03 1996-08-07 Institut Pasteur Nucleotide and peptide sequences of the USHER-lB gene diagnostic and therapeutic applications
US5855577A (en) 1996-09-17 1999-01-05 Eclipse Surgical Technologies, Inc. Bow shaped catheter
US6106473A (en) 1996-11-06 2000-08-22 Sts Biopolymers, Inc. Echogenic coatings
US5967991A (en) 1996-12-03 1999-10-19 Echocath, Inc. Drive apparatus for an interventional medical device used in an ultrasonic imaging system
US5876373A (en) 1997-04-04 1999-03-02 Eclipse Surgical Technologies, Inc. Steerable catheter
ATE399860T1 (de) 1997-08-15 2008-07-15 Pasteur Institut Mutation innerhalb des connexin 26 gens und bezug zu prelingualer syndromloser taubheit sowie detektionsverfahren
US5984929A (en) 1997-08-29 1999-11-16 Target Therapeutics, Inc. Fast detaching electronically isolated implant
US6179809B1 (en) 1997-09-24 2001-01-30 Eclipse Surgical Technologies, Inc. Drug delivery catheter with tip alignment
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Also Published As

Publication number Publication date
US20120322059A1 (en) 2012-12-20
CA2301301C (en) 2010-12-07
US9868989B2 (en) 2018-01-16
US9169517B2 (en) 2015-10-27
EP1003865B1 (en) 2008-07-02
US8143000B2 (en) 2012-03-27
US20160076101A1 (en) 2016-03-17
US6485908B1 (en) 2002-11-26
WO1999009210A2 (en) 1999-02-25
CA2720384C (en) 2014-08-12
US20090104600A1 (en) 2009-04-23
PT1003865E (pt) 2008-10-14
US20030170676A1 (en) 2003-09-11
ATE399860T1 (de) 2008-07-15
CA2301301A1 (en) 1999-02-25
US7258975B2 (en) 2007-08-21
CY1108771T1 (el) 2014-04-09
WO1999009210A3 (en) 1999-04-15
DE69839671D1 (de) 2008-08-14
DK1003865T3 (da) 2008-11-10
JP2001514904A (ja) 2001-09-18
CA2720384A1 (en) 1999-02-25
US5998147A (en) 1999-12-07
CA2852463C (en) 2017-08-29
US8455195B2 (en) 2013-06-04
CA2852463A1 (en) 1999-02-25
EP1003865A2 (en) 2000-05-31
ES2308813T3 (es) 2008-12-01
US20140113285A1 (en) 2014-04-24

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