-
1
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
S. DiMauro, C.T. Moraes, Mitochondrial encephalomyopathies, Arch. Neurol. 50 (1993) 1197-1208. (Pubitemid 23327777)
-
(1993)
Archives of Neurology
, vol.50
, Issue.11
, pp. 1197-1208
-
-
DiMauro, S.1
Moraes, C.T.2
-
2
-
-
49849088591
-
Mitochondria as chi
-
D.C. Wallace, Mitochondria as chi, Genetics 179 (2008) 727-735.
-
(2008)
Genetics
, vol.179
, pp. 727-735
-
-
Wallace, D.C.1
-
3
-
-
34548271691
-
Pathogenic mitochondrial DNA mutations in protein-coding genes
-
L.C. Wong, Pathogenic mitochondrial DNA mutations in protein-coding genes, Muscle Nerve 36 (2007) 279-293.
-
(2007)
Muscle Nerve
, vol.36
, pp. 279-293
-
-
Wong, L.C.1
-
5
-
-
0033525773
-
Mitochondrial disease in man and mouse
-
D.C. Wallace, Mitochondrial disease in man and mouse, Science 283 (1999) 1482-1486.
-
(1999)
Science
, vol.283
, pp. 1482-1486
-
-
Wallace, D.C.1
-
6
-
-
77953290939
-
Therapeutic prospects for mitochondrial disease
-
E.A. Schon, S. DiMauro, M. Hirano, R. Gilkerson, Therapeutic prospects for mitochondrial disease, Trends Mol. Med. 16 (2010) 268-276.
-
(2010)
Trends Mol. Med.
, vol.16
, pp. 268-276
-
-
Schon, E.A.1
DiMauro, S.2
Hirano, M.3
Gilkerson, R.4
-
7
-
-
0032833421
-
Mitochondrial DNA variation in human evolution and disease
-
DOI 10.1016/S0378-1119(99)00295-4, PII S0378111999002954
-
D.C. Wallace, Mitochondrial DNA variation in human evolution and disease, Gene 238 (1999) 211-230. (Pubitemid 29436110)
-
(1999)
Gene
, vol.238
, Issue.1
, pp. 211-230
-
-
Wallace, D.C.1
Brown, M.D.2
Lott, M.T.3
-
8
-
-
79953900452
-
Application of mtDNA SNP analysis in forensic casework
-
S. Köhnemann, H. Pfeiffer, Application of mtDNA SNP analysis in forensic casework, Forensic Sci. Int. Genet. 5 (2011) 216-221.
-
(2011)
Forensic Sci. Int. Genet.
, vol.5
, pp. 216-221
-
-
Köhnemann, S.1
Pfeiffer, H.2
-
9
-
-
0242693327
-
Forensics and Mitochondrial DNA: Applications, Debates, and Foundations
-
DOI 10.1146/annurev.genom.4.070802.110352
-
B. Budowle, M.W. Allard, M.R. Wilson, R. Chakraborty, Forensics and mitochondrial DNA: applications, debates, and foundations, Annu. Rev. Genomics Hum. Genet. 4 (2003) 119-141. (Pubitemid 37392921)
-
(2003)
Annual Review of Genomics and Human Genetics
, vol.4
, pp. 119-141
-
-
Budowle, B.1
Allard, M.W.2
Wilson, M.R.3
Chakraborty, R.4
-
10
-
-
58349116644
-
Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes
-
A. Hartmann, M. Thieme, L.K. Nanduri, T. Stempfl, C. Moehle, T. Kivisild, P.J. Oefner, Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes, Hum. Mutat. 30 (2009) 115-122.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 115-122
-
-
Hartmann, A.1
Thieme, M.2
Nanduri, L.K.3
Stempfl, T.4
Moehle, C.5
Kivisild, T.6
Oefner, P.J.7
-
11
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
I.J. Holt, A.E. Harding, R.K. Petry, J.A. Morgan-Hughes, A new mitochondrial disease associated with mitochondrial DNA heteroplasmy, Am. J. Hum. Genet. 46 (1990) 428-433.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petry, R.K.3
Morgan-Hughes, J.A.4
-
12
-
-
2642539211
-
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach
-
R.K. Bai, L.J. Wong, Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach, Clin. Chem. 50 (2004) 996-1001.
-
(2004)
Clin. Chem.
, vol.50
, pp. 996-1001
-
-
Bai, R.K.1
Wong, L.J.2
-
13
-
-
77954742818
-
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
-
B.O. Choi, J.H. Hwang, E.M. Cho, E.H. Jeong, Y.S. Hyun, H.J. Jeon, K.M. Seong, N.S. Cho, K.W. Chung, Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases, Exp. Mol. Med. 42 (2010) 446-455.
-
(2010)
Exp. Mol. Med.
, vol.42
, pp. 446-455
-
-
Choi, B.O.1
Hwang, J.H.2
Cho, E.M.3
Jeong, E.H.4
Hyun, Y.S.5
Jeon, H.J.6
Seong, K.M.7
Cho, N.S.8
Chung, K.W.9
-
14
-
-
77954057208
-
Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system
-
S. Tang, T. Huang, Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system, BioTechniques 48 (2010) 287-296.
-
(2010)
BioTechniques
, vol.48
, pp. 287-296
-
-
Tang, S.1
Huang, T.2
-
15
-
-
77955562856
-
Detecting heteroplasmy from high throughput sequencing of complete human mitochondrial DNA genomes
-
M. Li, A. Schönberg, M. Schaefer, R. Schroeder, I. Nasidze, M. Stoneking, Detecting heteroplasmy from high throughput sequencing of complete human mitochondrial DNA genomes, Am. J. Hum. Genet. 87 (2010) 237-249.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 237-249
-
-
Li, M.1
Schönberg, A.2
Schaefer, M.3
Schroeder, R.4
Nasidze, I.5
Stoneking, M.6
-
16
-
-
77950083955
-
Heteroplasmic mitochondrial DNA mutations in normal and tumor cells
-
Y. He, J. Wu, D.C. Dressman, C. Iacobuzio-Donahue, S.D. Markowitz, V.E. Velculescu, L.A. Diaz Jr., K.W. Kinzler, B. Volgelstein, N. Papadopoulos, Heteroplasmic mitochondrial DNA mutations in normal and tumor cells, Nature 464 (2010) 610-614.
-
(2010)
Nature
, vol.464
, pp. 610-614
-
-
He, Y.1
Wu, J.2
Dressman, D.C.3
Iacobuzio-Donahue, C.4
Markowitz, S.D.5
Velculescu, V.E.6
Diaz Jr., L.A.7
Kinzler, K.W.8
Volgelstein, B.9
Papadopoulos, N.10
-
17
-
-
0033767565
-
Rapid genotyping by MALDI-monitored nuclease selection from probe libraries
-
J. Stoerker, J.D. Mayo, C.N. Tetzlaff, D.A. Sarracino, I. Schwope, C. Richert, Rapid genotyping by MALDI-monitored nuclease selection from probe libraries, Nat. Biotechnol. 18 (2000) 1213-1216.
-
(2000)
Nat. Biotechnol.
, vol.18
, pp. 1213-1216
-
-
Stoerker, J.1
Mayo, J.D.2
Tetzlaff, C.N.3
Sarracino, D.A.4
Schwope, I.5
Richert, C.6
-
18
-
-
0032998425
-
Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
-
DOI 10.1038/7044
-
V. Lyamichev, A.L. Mast, J.G. Hall, J.R. Prudent, M.W. Kaise, T. Takova, R.W. Kwiatkowski, T.J. Sander, M. de Arruda, D.A. Arco, B.P. Neri, M.A. Brow, Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probe, Nat. Biotechnol. 17 (1999) 292-296. (Pubitemid 29122638)
-
(1999)
Nature Biotechnology
, vol.17
, Issue.3
, pp. 292-296
-
-
Lyamichev, V.1
Mast, A.L.2
Hall, J.G.3
Prudent, J.R.4
Kaiser, M.W.5
Takova, T.6
Kwiatkowski, R.W.7
Sander, T.J.8
De Arruda, M.9
Arco, D.A.10
Neri, B.P.11
Brow, M.A.D.12
-
19
-
-
0033621054
-
Chip-based genotyping by mass spectrometry
-
DOI 10.1073/pnas.96.18.10016
-
K. Tang, D.J. Fu, D. Julien, A. Braun, C.R. Cantor, H. Köster, Chip-based genotyping by mass spectrometry, Proc. Natl. Acad. Sci. USA 96 (1999) 10016-10020. (Pubitemid 29422504)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.18
, pp. 10016-10020
-
-
Tang, K.1
Fu, D.-J.2
Julien, D.3
Braun, A.4
Cantor, C.R.5
Kostek, H.6
-
20
-
-
0033020685
-
Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry
-
DOI 10.1002/(SICI)1522-2683(19990101)20:6<1258::AID-ELPS1258>3.0. CO;2-V
-
J. Li, J.M. Butler, Y. Tan, H. Lin, S. Royer, L. Ohler, T.A. Shaler, J.M. Hunter, D.J. Pollart, J.A. Monforte, C.H. Becker, Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry, Electrophoresis 20 (1999) 1258-1265. (Pubitemid 29262144)
-
(1999)
Electrophoresis
, vol.20
, Issue.6
, pp. 1258-1265
-
-
Li, J.1
Butler, J.M.2
Tan, Y.3
Lin, H.4
Royer, S.5
Ohler, L.6
Shaler, T.A.7
Hunter, J.M.8
Pollart, D.J.9
Monforte, J.A.10
Becker, C.H.11
-
21
-
-
0031734601
-
High level multiplex genotyping by MALDI-TOF mass spectrometry
-
DOI 10.1038/4328
-
P. Ross, L. Hall, I.P. Smirnov, L. Haff, High level multiplex genotyping by MALDI-TOF mass spectrometry, Nat. Biotechnol. 16 (1998) 1347-1351. (Pubitemid 28547446)
-
(1998)
Nature Biotechnology
, vol.16
, Issue.13
, pp. 1347-1351
-
-
Ross, P.1
Hall, L.2
Smirnov, I.3
Haff, L.4
-
22
-
-
39849104653
-
A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry
-
DOI 10.1515/CCLM.2008.071
-
F.A. Xiu-Cheng, H.S. Garritsen, S.E. Tarhouny, M. Morris, S. Hahn, W. Holzgreve, X.Y. Zhong, A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry, Clin. Chem. Lab. Med. 46 (2008) 299-305. (Pubitemid 351317771)
-
(2008)
Clinical Chemistry and Laboratory Medicine
, vol.46
, Issue.3
, pp. 299-305
-
-
Xiu-Cheng, F.A.1
Garritsen, H.S.P.2
Tarhouny, S.E.L.3
Morris, M.4
Hahn, S.5
Holzgreve, W.6
Zhong, X.Y.7
-
23
-
-
0344441425
-
Digital genotyping using molecular affinity and mass spectrometry
-
DOI 10.1038/nrg1230
-
S. Kim, H.D. Ruparel, C. Gilliam, J. Ju, Digital genotyping using molecular affinity and mass spectrometry, Nat. Rev. Genet. 4 (2003) 1001-1008. (Pubitemid 37474647)
-
(2003)
Nature Reviews Genetics
, vol.4
, Issue.12
, pp. 1001-1008
-
-
Kim, S.1
Ruparel, H.D.2
Gilliam, T.C.3
Ju, J.4
-
24
-
-
0037102334
-
Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry
-
S. Kim, J.R. Edwards, L. Deng, W. Chung, J. Ju, Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry, Nucleic Acids Res. 30 (2002) e85.
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Kim, S.1
Edwards, J.R.2
Deng, L.3
Chung, W.4
Ju, J.5
-
25
-
-
1842815898
-
Thirtyfold multiplex genotyping of the p53 gene using solid phase capturable dideoxynucleotides and mass spectrometry
-
DOI 10.1016/j.ygeno.2003.11.012, PII S0888754303003690
-
S. Kim, M.E. Ulz, T. Nguyen, C.M. Li, T. Sato, B. Tycko, J. Ju, Thirtyfold multiplex genotyping of the p53 gene using solid phase capturable dideoxynucleotides and mass spectrometry, Genomics 83 (2004) 924-931. (Pubitemid 38469931)
-
(2004)
Genomics
, vol.83
, Issue.5
, pp. 924-931
-
-
Kim, S.1
Ulz, M.E.2
Nguyen, T.3
Li, C.-M.4
Sato, T.5
Tycko, B.6
Ju, J.7
-
26
-
-
34248397938
-
Multiplex genotyping of cytochrome P450 single-nucleotide polymorphisms by use of MALDI-TOF mass spectrometry
-
DOI 10.1373/clinchem.2006.080739
-
A. Misra, J.Y. Hong, S. Kim, Multiplex genotyping of cytochrome p450 single-nucleotide polymorphisms by use of MALDI-TOF mass spectrometry, Clin. Chem. 52 (2007) 933-939. (Pubitemid 46744251)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.5
, pp. 933-939
-
-
Misra, A.1
Hong, J.-Y.2
Kim, S.3
-
27
-
-
84863777385
-
Design and synthesis of cleavable biotinylated dideoxynucleotides for DNA sequencing by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
-
C. Qiu, S. Kumar, J. Guo, L. Yu, W. Guo, S. Shi, J.J. Russo, J. Ju, Design and synthesis of cleavable biotinylated dideoxynucleotides for DNA sequencing by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, Anal. Biochem. (2012). http://dx.doi.org/10.1016/i.ab.2012.04.021.
-
(2012)
Anal. Biochem.
-
-
Qiu, C.1
Kumar, S.2
Guo, J.3
Yu, L.4
Guo, W.5
Shi, S.6
Russo, J.J.7
Ju, J.8
-
28
-
-
79953211019
-
MERRF
-
R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens (Eds.), University of Washington, Seattle
-
S. DiMauro, M. Hirano, MERRF, in: R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens (Eds.), GeneReviews, University of Washington, Seattle, 1993-2003.
-
GeneReviews
, pp. 1993-2003
-
-
DiMauro, S.1
Hirano, M.2
-
29
-
-
10644245921
-
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations
-
F. Pallotti, A. Baracca, E. Hernandez-Rose, W.F. Walker, G. Solaini, G. Lenaz, G.V. Melzi D'Eril, S. DiMauro, E.A. Schon, M.M. Davidson, Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations, Biochem. J. 384 (2004) 287-293.
-
(2004)
Biochem. J.
, vol.384
, pp. 287-293
-
-
Pallotti, F.1
Baracca, A.2
Hernandez-Rose, E.3
Walker, W.F.4
Solaini, G.5
Lenaz, G.6
Melzi D'Eril, G.V.7
DiMauro, S.8
Schon, E.A.9
Davidson, M.M.10
-
32
-
-
0029962873
-
Lys gene (G8363A)
-
Lys gene (G8363A), Am. J. Hum. Genet. 58 (1996) 933-993.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 933-993
-
-
Santorelli, F.M.1
Mak, S.C.2
El-Schahawi, M.3
Casali, C.4
Shanske, S.5
Baram, T.Z.6
Madrid, R.E.7
DiMauro, S.8
-
33
-
-
0030015798
-
Leu(UUR) may cause an MERRF syndrome
-
Leu(UUR) may cause an MERRF syndrome, J. Neurol. Neurosurg. Psychiatry 61 (1996) 47-51.
-
(1996)
J. Neurol. Neurosurg. Psychiatry
, vol.61
, pp. 47-51
-
-
Fabrizi, G.M.1
Cardaioli, E.2
Grieco, G.S.3
Cavallaro, T.4
Malandrini, A.5
Manneschi, L.6
Dotti, M.T.7
Federico, A.8
Guazzi, G.9
-
34
-
-
0042026576
-
Leu(UUR) mutation in a patient with features of MERRF and Kearns-Sayre syndrome
-
Leu(UUR) mutation in a patient with features of MERRF and Kearns-Sayre syndrome, Neuromuscul. Disord. 13 (2003) 334-340.
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 334-340
-
-
Nishigaki, Y.1
Tadesse, S.2
Bonilla, E.3
Shungu, D.4
Hersh, S.5
Keats, B.J.6
Berlin, C.I.7
Goldberg, M.F.8
Vockley, J.9
DiMauro, S.10
Hirano, M.11
-
36
-
-
77953290939
-
Therapeutic prospects for mitochondrial disease
-
E.A. Schon, S. DiMauro, M. Hirano, R.W. Gilkerson, Therapeutic prospects for mitochondrial disease, Trends. Mol. Med. 16 (2010) 268-276.
-
(2010)
Trends. Mol. Med.
, vol.16
, pp. 268-276
-
-
Schon, E.A.1
DiMauro, S.2
Hirano, M.3
Gilkerson, R.W.4
-
37
-
-
0037444769
-
Mitochondrial threshold effects
-
DOI 10.1042/BJ20021594
-
R. Rossignol, B. Faustin, C. Rocher, M. Malgat, J.P. Mazat, T. Letellier, Mitochondrial threshold effects, Biochem. J. 370 (2003) 751-762. (Pubitemid 36399067)
-
(2003)
Biochemical Journal
, vol.370
, Issue.3
, pp. 751-762
-
-
Rossignol, R.1
Faustin, B.2
Rocher, C.3
Malgat, M.4
Mazat, J.-P.5
Letellier, T.6
-
38
-
-
44849139534
-
A functionally dominant mitochondrial DNA mutation
-
DOI 10.1093/hmg/ddn073
-
S. Sacconi, L. Salviati, Y. Nishigaki, W.F. Walker, E. Hernandez-Rosa, E. Trevisson, S. Delplace, C. Desnuelle, S. Shanske, M. Hirano, E.A. Schon, E. Bonilla, D.C. De Vivo, S. DiMauro, M.M. Davidson, A functionally dominant mitochondrial DNA mutation, Hum. Mol. Genet. 17 (2008) 1814-1820. (Pubitemid 351791508)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.12
, pp. 1814-1820
-
-
Sacconi, S.1
Salviati, L.2
Nishigaki, Y.3
Walker, W.F.4
Hernandez-Rosa, E.5
Trevisson, E.6
Delplace, S.7
Desnuelle, C.8
Shanske, S.9
Hirano, M.10
Schon, E.A.11
Bonilla, E.12
De Vivo, D.C.13
DiMauro, S.14
Davidson, M.M.15
-
39
-
-
70649088117
-
Applications of MALDI-TOF MS to large-scale human mtDNA population-based studies
-
M. Cerezo, V. Cerny, A. Carracedo, A. Salas, Applications of MALDI-TOF MS to large-scale human mtDNA population-based studies, Electrophoresis 30 (2009) 3665-3673.
-
(2009)
Electrophoresis
, vol.30
, pp. 3665-3673
-
-
Cerezo, M.1
Cerny, V.2
Carracedo, A.3
Salas, A.4
-
40
-
-
33847375985
-
Mitochondrial DNA mutation detection by electrospray mass spectrometry
-
DOI 10.1373/clinchem.2006.074823
-
Y. Jiang, T.A. Hall, S.A. Hofstadler, R.K. Naviaux, Mitochondrial DNA mutation detection by electrospray mass spectrometry, Clin. Chem. 53 (2007) 195-203. (Pubitemid 46338263)
-
(2007)
Clinical Chemistry
, vol.53
, Issue.2
, pp. 195-203
-
-
Jiang, Y.1
Hall, T.A.2
Hofstadler, S.A.3
Naviaux, R.K.4
|