-
1
-
-
0026587335
-
Mitochondrial genetics: A paradigm for aging and degenerative diseases?
-
Wallace DC. Mitochondrial genetics: A paradigm for aging and degenerative diseases? Science 1992;256: 628-32.
-
(1992)
Science
, vol.256
, pp. 628-632
-
-
Wallace, D.C.1
-
2
-
-
0034485393
-
Human mitochondriai genetics
-
Harding SE, ed. Andover, United Kingdom: Intercept Ltd.
-
Tully LA, Levin BC. Human mitochondriai genetics. In: Harding SE, ed. Biotechnology and genetic engineering reviews, Vol. 17. Andover, United Kingdom: Intercept Ltd., 2000: 147-77.
-
(2000)
Biotechnology and Genetic Engineering Reviews
, vol.17
, pp. 147-177
-
-
Tully, L.A.1
Levin, B.C.2
-
3
-
-
0030850573
-
Direct detection of multiple point mutations in mitochondrial DNA
-
Wong L-JC, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem 1997;43: 1857-61.
-
(1997)
Clin Chem
, vol.43
, pp. 1857-1861
-
-
Wong, L.-J.C.1
Senadheera, D.2
-
4
-
-
0032486118
-
Yield of mtDNA mutation analysis in 2000 patients
-
Liang MH, Wong LJC. Yield of mtDNA mutation analysis in 2000 patients. Am J Med Genet 1998;77: 395-400.
-
(1998)
Am J Med Genet
, vol.77
, pp. 395-400
-
-
Liang, M.H.1
Wong, L.J.C.2
-
5
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, deBrujin MHL, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290: 457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
DeBrujin, M.H.L.4
Coulson, A.R.5
Drouin, J.6
-
6
-
-
0011782029
-
Endothelial dysfunction in patients with MELAS: Role of oxidative stress to stroke
-
Feb. 28-March 4, San Diego, CA
-
Koga Y, Fukiyama R, Matsuoka H, Akita Y, Imaizumi T, Kato H. Endothelial dysfunction in patients with MELAS: role of oxidative stress to stroke [Abstract]. Proceedings of the Mitochondria 2001 Meeting, Feb. 28-March 4, 2001, San Diego, CA.
-
(2001)
Proceedings of the Mitochondria 2001 Meeting
-
-
Koga, Y.1
Fukiyama, R.2
Matsuoka, H.3
Akita, Y.4
Imaizumi, T.5
Kato, H.6
-
7
-
-
0000939340
-
Mitochondriai genetics
-
Rimoin DL, Connor JM, Pyeritz RE, eds. New York: Churchill Livingstone
-
Wallace DC, Brown MD, Lott MT. Mitochondriai genetics. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd Ed., Vol. 1. New York: Churchill Livingstone, 1997: 277-332.
-
(1997)
Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd Ed.
, vol.1
, pp. 277-332
-
-
Wallace, D.C.1
Brown, M.D.2
Lott, M.T.3
-
8
-
-
0030800047
-
Alternative, honinvasive tissues for quantitative screening of mutant mitochondrial DNA
-
Wong L-JC, Lam C-W. Alternative, honinvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem 1997;43: 1241-3.
-
(1997)
Clin Chem
, vol.43
, pp. 1241-1243
-
-
Wong, L.-J.C.1
Lam, C.-W.2
-
9
-
-
0025905698
-
Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples
-
Hammans S, Sweeney M, Brockington M, Morgan-Hughes J, Harding A. Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples. Lancet 1991;337: 1311-3.
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.1
Sweeney, M.2
Brockington, M.3
Morgan-Hughes, J.4
Harding, A.5
-
10
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri, G, Hirano M, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31: 391-8.
-
(1992)
Ann Neurol
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
Moraes, C.T.4
Silvestri, G.5
Hirano, M.6
-
11
-
-
85023968672
-
Development of a heteroplasmic mitochondrial DNA standard reference material for detection of heteroplasmy and low frequency mutations
-
September 29-October 2, Orlando, FL
-
Tully LA, Schwarz FP, Levin BC. Development of a heteroplasmic mitochondrial DNA standard reference material for detection of heteroplasmy and low frequency mutations. Proceedings of the 10th International Symposium in Human Identification, September 29-October 2, 1999, Orlando, FL. http://www.promega.com/geneticidproc/ussymp10proc/abstracts/24Tully.pdf (Accessed June 18, 2002).
-
(1999)
Proceedings of the 10th International Symposium in Human Identification
-
-
Tully, L.A.1
Schwarz, F.P.2
Levin, B.C.3
-
12
-
-
0027918436
-
Characterization of antisense binding properties of peptide nucleic acids by capillary gel electrophoresis
-
Rose DJ. Characterization of antisense binding properties of peptide nucleic acids by capillary gel electrophoresis. Anal Chem 1993;65: 3545-9.
-
(1993)
Anal Chem
, vol.65
, pp. 3545-3549
-
-
Rose, D.J.1
-
13
-
-
0029739851
-
Peptide nucleic acid characterization by MALDI-TOF mass spectrometry
-
Butler JM, Jiang-Baucom P, Huang M, Belgrader P, Girard J. Peptide nucleic acid characterization by MALDI-TOF mass spectrometry. Anal Chem 1996;68: 3283-7.
-
(1996)
Anal Chem
, vol.68
, pp. 3283-3287
-
-
Butler, J.M.1
Jiang-Baucom, P.2
Huang, M.3
Belgrader, P.4
Girard, J.5
-
14
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19: 5444.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger J.I., Jr.2
-
15
-
-
0034944873
-
A review of the DNA standard reference materials developed by the National Institute of Standards and Technology
-
Levin BC, Cheng H, Kline MC, Redman JW, Richie KL. A review of the DNA standard reference materials developed by the National Institute of Standards and Technology. Fresenius J Anal Chem 2001;370: 213-9.
-
(2001)
Fresenius J Anal Chem
, vol.370
, pp. 213-219
-
-
Levin, B.C.1
Cheng, H.2
Kline, M.C.3
Redman, J.W.4
Richie, K.L.5
-
16
-
-
0030926652
-
Improvements in automated PNA synthesis using Boc/Z monomers
-
Koch T, Hansen HF, Andersen P, Larsen T, Batz HG, Otteson K, et al. Improvements in automated PNA synthesis using Boc/Z monomers. J Peptide Res 1997;49: 80-8.
-
(1997)
J Peptide Res
, vol.49
, pp. 80-88
-
-
Koch, T.1
Hansen, H.F.2
Andersen, P.3
Larsen, T.4
Batz, H.G.5
Otteson, K.6
-
17
-
-
0001830086
-
The chemistry of peptide nucleic acids
-
Kates SA, Albericio, F, eds. New York: Manuel Dekker
-
Egholm M, Casale RA. The chemistry of peptide nucleic acids. In: Kates SA, Albericio, F, eds. Solid-phase synthesis. New York: Manuel Dekker, 2000: 549-78.
-
(2000)
Solid-Phase Synthesis
, pp. 549-578
-
-
Egholm, M.1
Casale, R.A.2
-
19
-
-
0002346446
-
Exam: A two-state thermodynamic analysis program
-
Gaithersburg, MD: NIST
-
Kirchhoff WH. Exam: A two-state thermodynamic analysis program. NIST Technical Note 1401. Gaithersburg, MD: NIST, 1993: 1-103.
-
(1993)
NIST Technical Note 1401
, pp. 1-103
-
-
Kirchhoff, W.H.1
-
20
-
-
0033556080
-
A human mitochondrial DNA Standard Reference Material for quality control in forensic identification, medical diagnosis, and mutation detection
-
Levin BC, Cheng H, Reeder DJ. A human mitochondrial DNA Standard Reference Material for quality control in forensic identification, medical diagnosis, and mutation detection. Genomics 1999;55: 135-46.
-
(1999)
Genomics
, vol.55
, pp. 135-146
-
-
Levin, B.C.1
Cheng, H.2
Reeder, D.J.3
-
21
-
-
0034951327
-
Mitochondrial DNA mutations in human diseases
-
DiMauro S, Schon EA. Mitochondrial DNA mutations in human diseases. Am J Med Genet 2001;106: 18-26.
-
(2001)
Am J Med Genet
, vol.106
, pp. 18-26
-
-
DiMauro, S.1
Schon, E.A.2
-
22
-
-
0027161003
-
A mitochondrial tRNA anticodon swap associated with a muscle disease
-
Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Shon EA, DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet 1993;4: 284-8.
-
(1993)
Nat Genet
, vol.4
, pp. 284-288
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Ionasescu, V.4
Shon, E.A.5
DiMauro, S.6
-
23
-
-
0031020420
-
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
-
Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997;60: 373-80.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 373-380
-
-
Weber, K.1
Wilson, J.N.2
Taylor, L.3
Brierley, E.4
Johnson, M.A.5
Turnbull, D.M.6
-
24
-
-
0032569876
-
Detection of MELAS A3243G point mutation in muscle, blood, and hair follicles
-
Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E, et al. Detection of MELAS A3243G point mutation in muscle, blood, and hair follicles. J Neurol Sci 1998;161: 36-9.
-
(1998)
J Neurol Sci
, vol.161
, pp. 36-39
-
-
Sue, C.M.1
Quigley, A.2
Katsabanis, S.3
Kapsa, R.4
Crimmins, D.S.5
Byrne, E.6
-
25
-
-
0029960177
-
Heteroplasmy levels of a mitochiondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
-
t'Hart LM, Jansen JJ, Lemkes HH, de Knijff P, Maassen JA. Heteroplasmy levels of a mitochiondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 1996;7: 193-7.
-
(1996)
Hum Mutat
, vol.7
, pp. 193-197
-
-
T'Hart, L.M.1
Jansen, J.J.2
Lemkes, H.H.3
De Knijff, P.4
Maassen, J.A.5
-
26
-
-
0034746790
-
Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
-
Rahman S, Poulton J, Marchington D, Suomalainen A. Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: A longitudinal study. Am J Hum Genet 2001;68: 238-40.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
Suomalainen, A.4
-
27
-
-
0034327572
-
The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method
-
Murdock DG, Christacos NC, Wallace DC. The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res 2000;28: 4350-5.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4350-4355
-
-
Murdock, D.G.1
Christacos, N.C.2
Wallace, D.C.3
-
28
-
-
0027485066
-
Single base pair mutation analysis by PNA directed PCR clamping
-
Orum H, Nielsen PE, Egholm M, Berg RH, Buchardt O, Stanley C. Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res 1993;21: 5332-6.
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 5332-5336
-
-
Orum, H.1
Nielsen, P.E.2
Egholm, M.3
Berg, R.H.4
Buchardt, O.5
Stanley, C.6
-
29
-
-
0029865354
-
Simple and sensitive detection of mutations in the ras protooncogenes using PNA-mediated clamping
-
Thiede C, Bayerdorffer E, Blasczyk R, Wittig B, Neubauer A. Simple and sensitive detection of mutations in the ras protooncogenes using PNA-mediated clamping. Nucleic Acids Res 1996;24: 983-4.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 983-984
-
-
Thiede, C.1
Bayerdorffer, E.2
Blasczyk, R.3
Wittig, B.4
Neubauer, A.5
-
30
-
-
0032126175
-
Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping
-
Kyger EM, Krevolin MD, Powell MJ. Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping. Anal Biochem 1998;260: 142-8.
-
(1998)
Anal Biochem
, vol.260
, pp. 142-148
-
-
Kyger, E.M.1
Krevolin, M.D.2
Powell, M.J.3
-
31
-
-
0029924643
-
Screening for genetic mutations
-
Carlsson C, Jonsson M, Norden B, Dulay MT, Zare RN, Noolandi J, et al. Screening for genetic mutations. Nature 1996;380: 207.
-
(1996)
Nature
, vol.380
, pp. 207
-
-
Carlsson, C.1
Jonsson, M.2
Norden, B.3
Dulay, M.T.4
Zare, R.N.5
Noolandi, J.6
-
32
-
-
0029905694
-
Peptide nucleic acid pre-gel hybridization: An alternative to Southern hybridization
-
Perry-O'Keefe H, Yao X-W, Coull JM, Fuchs M, Egholm M. Peptide nucleic acid pre-gel hybridization: An alternative to Southern hybridization. Proc Natl Acad Sci U S A 1996;93: 14670-5.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 14670-14675
-
-
Perry-O'Keefe, H.1
Yao, X.-W.2
Coull, J.M.3
Fuchs, M.4
Egholm, M.5
-
33
-
-
0031572434
-
Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry
-
Ross PL, Lee K, Belgrader P. Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry. Anal Chem 1997;69: 4197-202.
-
(1997)
Anal Chem
, vol.69
, pp. 4197-4202
-
-
Ross, P.L.1
Lee, K.2
Belgrader, P.3
-
35
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
Thorburn DR, Dahl HM. Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001;106: 102-14.
-
(2001)
Am J Med Genet
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.M.2
-
36
-
-
0031038812
-
Selective inhibition of mutant mitochondrial DNA replication in vitro by peptide nucleic acids
-
Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Selective inhibition of mutant mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 1997;15: 212-5.
-
(1997)
Nat Genet
, vol.15
, pp. 212-215
-
-
Taylor, R.W.1
Chinnery, P.F.2
Turnbull, D.M.3
Lightowlers, R.N.4
-
38
-
-
0033374355
-
Peptide nucleic acid delivery into human mitochondria
-
Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery into human mitochondria. Gene Ther 1999;6: 1919-28.
-
(1999)
Gene Ther
, vol.6
, pp. 1919-1928
-
-
Chinnery, P.F.1
Taylor, R.W.2
Diekert, K.3
Lill, R.4
Turnbull, D.M.5
Lightowlers, R.N.6
|