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      KCI등재 SCI SCIE SCOPUS

      Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization: A Case Report

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      https://www.riss.kr/link?id=A104745514

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      참고문헌 (Reference)

      1 "et al.of a complementary DNA for the nuclear coded precursor of humanmitochondrial ornithine transcarbamylase. Science 1984" Rogenberg LE. Structure and expression576 H.-S. Lee 1068-74,

      2 "Three births after preimplantation genetic diagnosisfor cystic fibrosis with sequential first and second polar body analy-sis" 178 : 1298-1306, 1998

      3 "Single intragenic microsatellite preimplantation enetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples" 7 : 307-312, 2001

      4 "Reliabilityof the single cell PCR analysis for preimplantation genetic diagnosisof single gene disorders" 32 : 293-300, 2005

      5 "Preimplantationdiagnosis for aneuploidies in patients undergoing in vitro fertiliza-tion with a poor prognosis: identification of the categories for whichit should be proposed" 72 : 837-844, 1999

      6 "Preimplantation genetic diagnosis: currentstatus and new development" 12 : 1756-1761, 1997

      7 "Preimplantation genetic diagnosis" 13 : 87-89, 1996

      8 "Preim-plantation diagnosis for ornithine transcarbamylase deficiency" 1 : 45-47, 2000

      9 "Posi-tive outcome after preimplantation diagnosis of aneuploidy in humanembryos" 14 : 2191-2199, 1999

      10 "Muta-tions and polymorphisms in the human ornithine transcarbamylasegene" 19 : 93-107, 2002

      1 "et al.of a complementary DNA for the nuclear coded precursor of humanmitochondrial ornithine transcarbamylase. Science 1984" Rogenberg LE. Structure and expression576 H.-S. Lee 1068-74,

      2 "Three births after preimplantation genetic diagnosisfor cystic fibrosis with sequential first and second polar body analy-sis" 178 : 1298-1306, 1998

      3 "Single intragenic microsatellite preimplantation enetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples" 7 : 307-312, 2001

      4 "Reliabilityof the single cell PCR analysis for preimplantation genetic diagnosisof single gene disorders" 32 : 293-300, 2005

      5 "Preimplantationdiagnosis for aneuploidies in patients undergoing in vitro fertiliza-tion with a poor prognosis: identification of the categories for whichit should be proposed" 72 : 837-844, 1999

      6 "Preimplantation genetic diagnosis: currentstatus and new development" 12 : 1756-1761, 1997

      7 "Preimplantation genetic diagnosis" 13 : 87-89, 1996

      8 "Preim-plantation diagnosis for ornithine transcarbamylase deficiency" 1 : 45-47, 2000

      9 "Posi-tive outcome after preimplantation diagnosis of aneuploidy in humanembryos" 14 : 2191-2199, 1999

      10 "Muta-tions and polymorphisms in the human ornithine transcarbamylasegene" 19 : 93-107, 2002

      11 "Muta-tion and polymorphisms in the human ornithine transcarbamylase(OTC) gene" 27 : 626-632, 2006

      12 "Munnich A. Carrier detection in a par-tially dominant X-linked disease" 167-71,

      13 "Multiplex nested PCR for preim-plantation genetic diagnosis of spinal muscular atrophy" 19 : 199-206, 2004

      14 "Multiplex PCR of polymorphic markers flank-ing the CFTR gene: a general approach for preimplantation geneticdiagnosis of cystic fibrosis" 6 : 881-885, 2000

      15 "Matsuda I.Structure of the human ornithine transcarbamylase deficiency. AmJ Hum Genet 1988" 212-22,

      16 "Increasing the denaturation temperatureduring the first cycles of amplification reduces allele dropout fromsingle cells for preimplantation genetic diagnosis" 2 : 213-218, 1996

      17 "Improvement of pregnancy rate in pre-implantation genetic diagnosis with FISH procedure by the labora-tory optimization and experiences" 31 : 29-39, 2004

      18 "Identification of new mutations in theornithine transcarbamylase (OTC) gene in Korean families" 19 : 31-42, 1996

      19 "Identification of a novel single nucleotide polymorphismof HADHA gene at a referred primer-binding site during pre-diag-nostic tests for preimplantation genetic diagnosis" 21 : 794-799, 2006

      20 "FranckeU. Human ornithine transcarbamylase locus mapped to band Xp21.1near the Duchenne muscular dystrophy locus. Science 1984" 698-700,

      21 "First specific preimplan-tation genetic diagnosis for ornithine transcarbamylase deficiency" 20 : 1048-1054, 2000

      22 "Efficacy of duplex-nested PCR and fluorescent PCR in the preimplantation genetic diagnosis for Duchenne muscular dystrophy" 32 : 17-26, 2005

      23 "Efficacy and clinical outcome of preimplantation genetic diagnosisusing FISH for couples of reciprocal and Robertsonian transloca-tions: the Korean experience" 24 : 556-561, 2004

      24 "Detailed inves-tigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diag-nosis" 9 : 411-420, 2003

      25 "Clinical application of preimplantation genetic diagnosis for cystic fibrosis" 20 : 571-581, 2000

      26 "Chromosome analysis by FISH in human preimplan-tation genetics" 12 : 153-155, 1997

      27 "Cell recycling of a single human cell forpreimplantation diagnosis of X-linked disease and dual sex determi-nation" 2 : 285-289, 1996

      28 "Cas-siman JJ. Co-amplification of the cystic fibrosis delta F508 mutationwiththe HLA DQA1 sequence in single cell PCR implications forimproved assessment of polar bodies and blastomeres in preimplan-tation diagnosis. Prenat Diagn 1993" 1111-2,

      29 "Brusilow SW. Differentiation of tran-sient hyperammonemia of the newborn and urea cycle enzyme defectsby clinical presentation. J Pediatr 1985" 712-9,

      30 "Assessment of numerical abnormalities of X, Y, 18 and 16 chromo-somes in preimplantation embryos before transfer" 172 : 1191-1201, 1995

      31 "Allele dropout insequential PCR and FISH analysis of single cells (cell recycling)" 13 : 115-124, 1996

      32 "A comparison of different lysis buffers to assess allele dropout fromsingle cells for preimplantation genetic diagnosis" 21 : 490-497, 2001

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      유사연구자 (20) 활용도상위20명

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2011-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2009-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2005-01-01 평가 SCI 등재 (등재유지) KCI등재
      2002-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      1999-07-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 1.48 0.37 1.06
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.85 0.75 0.691 0.11
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