메뉴 건너뛰기




Volumn 43, Issue 3, 2006, Pages 244-247

Analysis of mtDNA variant segregation during early human embryonic development: A tool for successful NARP preimplantation diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 33645124221     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.032326     Document Type: Article
Times cited : (114)

References (17)
  • 1
    • 0344236412 scopus 로고    scopus 로고
    • Genetic features of mitochondrial respiratory chain disorders
    • Rotig A, Munnich A. Genetic features of mitochondrial respiratory chain disorders. J Am Soc Nephrol 2003;14:2995-3007.
    • (2003) J Am Soc Nephrol , vol.14 , pp. 2995-3007
    • Rotig, A.1    Munnich, A.2
  • 2
    • 0034255870 scopus 로고    scopus 로고
    • 74th ENMC international workshop: Mitochondrial diseases 19-20 November 1999, Naarden, the Netherlands
    • Poulton J, Turnbull DM. 74th ENMC international workshop: mitochondrial diseases 19-20 November 1999, Naarden, the Netherlands. Neuromuscul Disord 2000;10:460-2.
    • (2000) Neuromuscul Disord , vol.10 , pp. 460-462
    • Poulton, J.1    Turnbull, D.M.2
  • 6
    • 0031712755 scopus 로고    scopus 로고
    • MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
    • Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998;121:1889-94.
    • (1998) Brain , vol.121 , pp. 1889-1894
    • Chinnery, P.F.1    Howell, N.2    Lightowlers, R.N.3    Turnbull, D.M.4
  • 7
    • 0030910828 scopus 로고    scopus 로고
    • Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes
    • Blok RB, Gook DA, Thorburn DR, Dahl HH. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am J Hum Genet 1997;60:1495-501.
    • (1997) Am J Hum Genet , vol.60 , pp. 1495-1501
    • Blok, R.B.1    Gook, D.A.2    Thorburn, D.R.3    Dahl, H.H.4
  • 11
    • 0031035454 scopus 로고    scopus 로고
    • Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: Support for a genetic bottleneck
    • Marchington DR, Hartshorne GM, Barlow D, Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 1997;60:408-16.
    • (1997) Am J Hum Genet , vol.60 , pp. 408-416
    • Marchington, D.R.1    Hartshorne, G.M.2    Barlow, D.3    Poulton, J.4
  • 12
    • 1042291983 scopus 로고    scopus 로고
    • Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy
    • Lee HY, Chung U, Yoo JE, Park MJ, Shin KJ. Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy. Electrophoresis 2004;25:28-34.
    • (2004) Electrophoresis , vol.25 , pp. 28-34
    • Lee, H.Y.1    Chung, U.2    Yoo, J.E.3    Park, M.J.4    Shin, K.J.5
  • 13
    • 0347356261 scopus 로고    scopus 로고
    • Comparison of mitochondrial DNA contents in human embryos with good or poor morphology at the 8-cell stage
    • Lin DP, Huang CC, Wu HM, Cheng TC, Chen CI, Lee MS. Comparison of mitochondrial DNA contents in human embryos with good or poor morphology at the 8-cell stage. Fertil Steril 2004;81:73-9.
    • (2004) Fertil Steril , vol.81 , pp. 73-79
    • Lin, D.P.1    Huang, C.C.2    Wu, H.M.3    Cheng, T.C.4    Chen, C.I.5    Lee, M.S.6
  • 15
    • 0032700777 scopus 로고    scopus 로고
    • Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
    • White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. Prenat Diagn 1999;19:1165-8.
    • (1999) Prenat Diagn , vol.19 , pp. 1165-1168
    • White, S.L.1    Shanske, S.2    Biros, I.3    Warwick, L.4    Dahl, H.M.5    Thorburn, D.R.6    Di Mauro, S.7
  • 16
    • 0030665556 scopus 로고    scopus 로고
    • Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome
    • Ferlin T, Landrieu P, Rambaud C, Fernandez H, Dumoulin R, Rustin P, Mousson B. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr 1997;131:447-9.
    • (1997) J Pediatr , vol.131 , pp. 447-449
    • Ferlin, T.1    Landrieu, P.2    Rambaud, C.3    Fernandez, H.4    Dumoulin, R.5    Rustin, P.6    Mousson, B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.