메뉴 건너뛰기




Volumn 16, Issue 13, 1996, Pages 1247-1256

Prospects for DNA-based prenatal diagnosis of mitochondrial disorders

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0030481480     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199612)16:13<1247::AID-PD99>3.0.CO;2-P     Document Type: Article
Times cited : (19)

References (20)
  • 1
    • 0027246118 scopus 로고
    • A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60
    • Agsteribbe, E., Huckriede, A., Veenhuis, M., Ruiters, M.H., Niezen-Koning, K.E., Skjeldal, O.H., Skullerud, K. et al. (1993). A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60, Biochem. Biophys. Res. Commun. 193, 146-154.
    • (1993) Biochem. Biophys. Res. Commun. , vol.193 , pp. 146-154
    • Agsteribbe, E.1    Huckriede, A.2    Veenhuis, M.3    Ruiters, M.H.4    Niezen-Koning, K.E.5    Skjeldal, O.H.6    Skullerud, K.7
  • 4
    • 12644289218 scopus 로고    scopus 로고
    • Heteroplasmy in the human mitochondrial DNA control region in twin pairs
    • in press
    • Bendall, K., Macaulay, V., Baker, J., and Sykes, B. (1996). Heteroplasmy in the human mitochondrial DNA control region in twin pairs, Am.J. Hum. Genet., in press.
    • (1996) Am.J. Hum. Genet.
    • Bendall, K.1    Macaulay, V.2    Baker, J.3    Sykes, B.4
  • 5
    • 0029017083 scopus 로고
    • Length heteroplasmy in the first hypervariable segment of the human mitochondrial DNA control region
    • Bendall, K., Sykes, B. (1995). Length heteroplasmy in the first hypervariable segment of the human mitochondrial DNA control region, Am.J. Hum. Genet., 57, 248-256.
    • (1995) Am.J. Hum. Genet. , vol.57 , pp. 248-256
    • Bendall, K.1    Sykes, B.2
  • 6
    • 0029102268 scopus 로고
    • Leber's Hereditary Optic Neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation
    • Black, G., Craig, I., Oostra, R., Norby, S., Rosenberg, T., Morten, K., Laborde, A. et al. (1995). Leber's Hereditary Optic Neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation, Eye, 9, 513-516.
    • (1995) Eye , vol.9 , pp. 513-516
    • Black, G.1    Craig, I.2    Oostra, R.3    Norby, S.4    Rosenberg, T.5    Morten, K.6    Laborde, A.7
  • 8
    • 0027230737 scopus 로고
    • A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies
    • Brockington, M., Sweeney, M.G., Hammans, S.R., Morgan-Hughes, J.A., Harding, A.E. (1993). A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies, Nat. Genet., 4, 67-71.
    • (1993) Nat. Genet. , vol.4 , pp. 67-71
    • Brockington, M.1    Sweeney, M.G.2    Hammans, S.R.3    Morgan-Hughes, J.A.4    Harding, A.E.5
  • 9
    • 0028239213 scopus 로고
    • Prenatal diagnosis of pyruvate dehydrogenase subunit E1 alpha deficiency
    • Brown, R., Brown, G. (1994). Prenatal diagnosis of pyruvate dehydrogenase subunit E1 alpha deficiency, Prenat. Diagnosis, 14, 435-442.
    • (1994) Prenat. Diagnosis , vol.14 , pp. 435-442
    • Brown, R.1    Brown, G.2
  • 12
    • 0026469235 scopus 로고
    • Subacute necrotizing encephalopathy: Oxidative phosphorylation defects and the ATPase 6 point mutation
    • Shoffner, J.M., Fernhoff, P.M., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y. et al. (1992). Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation, Neurology, 42, 2168-2174.
    • (1992) Neurology , vol.42 , pp. 2168-2174
    • Shoffner, J.M.1    Fernhoff, P.M.2    Krawiecki, N.S.3    Caplan, D.B.4    Holt, P.J.5    Koontz, D.A.6    Takei, Y.7
  • 13
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner, J.M., Lott, M.T., Lezza, A.M., Seibel, P., Ballinger, S.W., Wallace, D.C. (1990). Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation, Cell, 61, 931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 14
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T.R., Wherret, J., Smith, C., Rudd, N. et al. (1992). Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high, Am. J. Hum. Genet., 50, 852-959.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 852-959
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3    Clarke, J.T.R.4    Wherret, J.5    Smith, C.6    Rudd, N.7
  • 15
    • 0027244336 scopus 로고
    • The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
    • Tatuch, Y., Robinson, B. (1993). The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria, Biochem. Biophys. Res. Commun., 192, 124-128.
    • (1993) Biochem. Biophys. Res. Commun. , vol.192 , pp. 124-128
    • Tatuch, Y.1    Robinson, B.2
  • 16
    • 0028095263 scopus 로고
    • MtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
    • Torroni, A., Lott, M., Cabell, M., Chen, Y., Lavergne, L., Wallace, D. (1994). mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region, Am. J. Hum. Genet., 55, 760-766.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 760-766
    • Torroni, A.1    Lott, M.2    Cabell, M.3    Chen, Y.4    Lavergne, L.5    Wallace, D.6
  • 18
    • 0027936218 scopus 로고
    • Cytoplasmic transfer of the mtDNA nt 8993 T->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
    • Trounce, I., Neill, S., Wallace, D. (1994). Cytoplasmic transfer of the mtDNA nt 8993 T->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc. Natl. Acad. Sci. U.S.A., 91, 8334-8338.
    • (1994) Proc. Natl. Acad. Sci. U.S.A. , vol.91 , pp. 8334-8338
    • Trounce, I.1    Neill, S.2    Wallace, D.3
  • 19
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J. et al. (1988). Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 242, 1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3    Hodge, J.A.4    Schurr, T.G.5    Lezza, A.M.6    Elsas, L.J.7
  • 20
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., DiDonato, S. (1989). An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region, Nature, 339, 309-311.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    Dimauro, S.5    DiDonato, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.