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Volumn 90, Issue 5, 2008, Pages 2017.e11-2017.e13

Successful application of preimplantation genetic diagnosis for Leigh syndrome

Author keywords

IVF; Leigh syndrome; PCR; PGD

Indexed keywords

POLYACRYLAMIDE GEL; RESTRICTION ENDONUCLEASE;

EID: 55149099396     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.07.023     Document Type: Article
Times cited : (12)

References (12)
  • 1
    • 0033766123 scopus 로고    scopus 로고
    • Human cytochrome oxidase deficiency (review)
    • Robinson B.H. Human cytochrome oxidase deficiency (review). Pediatr Res 48 (2000) 581-585
    • (2000) Pediatr Res , vol.48 , pp. 581-585
    • Robinson, B.H.1
  • 5
    • 3142658677 scopus 로고    scopus 로고
    • Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
    • Oquendo C.E., Antonicka H., Shoubridge E.A., Reardon W., and Brown G.K. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet 41 (2004) 540-544
    • (2004) J Med Genet , vol.41 , pp. 540-544
    • Oquendo, C.E.1    Antonicka, H.2    Shoubridge, E.A.3    Reardon, W.4    Brown, G.K.5
  • 7
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • Zhu Z., Yao J., Johns T., Fu K., De Bie I., Macmillan C., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20 (1998) 337-343
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3    Fu, K.4    De Bie, I.5    Macmillan, C.6
  • 9
    • 2442505031 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis
    • Review
    • Sermon K., Van Steirteghem A., and Liebaers I. Preimplantation genetic diagnosis. Lancet 363 (2004) 1633-1641 Review
    • (2004) Lancet , vol.363 , pp. 1633-1641
    • Sermon, K.1    Van Steirteghem, A.2    Liebaers, I.3
  • 12
    • 0035039888 scopus 로고    scopus 로고
    • Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
    • Péquignot M.O., Dey R., Zeviani M., Tiranti V., Godinot C., Poyau A., et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat 17 (2001) 374-381
    • (2001) Hum Mutat , vol.17 , pp. 374-381
    • Péquignot, M.O.1    Dey, R.2    Zeviani, M.3    Tiranti, V.4    Godinot, C.5    Poyau, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.