180 related articles for article (PubMed ID: 32419253)
1. Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Zereg E; Chaussenot A; Morel G; Bannwarth S; Sacconi S; Soriani MH; Attarian S; Cano A; Pouget J; Bellance R; Tranchant C; Lannes B; de Paula AM; Saadi Ait-El-Mkadem S; Chafino B; Berthet M; Fragaki K; Paquis-Flucklinger V; Rouzier C
Hum Mutat; 2020 Aug; 41(8):1394-1406. PubMed ID: 32419253
[TBL] [Abstract][Full Text] [Related]
2. Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J; Balciuniene J; Diaz-Miranda MA; McCormick EM; Aref-Eshghi E; Muir AM; Cao K; Troiani J; Moseley A; Fan Z; Zolkipli-Cunningham Z; Goldstein A; Ganetzky RD; Muraresku CC; Peterson JT; Spinner NB; Wallace DC; Dulik MC; Falk MJ
Mol Genet Metab; 2022 Jan; 135(1):93-101. PubMed ID: 34969639
[TBL] [Abstract][Full Text] [Related]
3. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
Blakely EL; Yarham JW; Alston CL; Craig K; Poulton J; Brierley C; Park SM; Dean A; Xuereb JH; Anderson KN; Compston A; Allen C; Sharif S; Enevoldson P; Wilson M; Hammans SR; Turnbull DM; McFarland R; Taylor RW
Hum Mutat; 2013 Sep; 34(9):1260-8. PubMed ID: 23696415
[TBL] [Abstract][Full Text] [Related]
4. Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.
Zaragoza MV; Brandon MC; Diegoli M; Arbustini E; Wallace DC
Eur J Hum Genet; 2011 Feb; 19(2):200-7. PubMed ID: 20978534
[TBL] [Abstract][Full Text] [Related]
5. Impact of the sequencing method on the detection and interpretation of mitochondrial DNA length heteroplasmy.
Sturk-Andreaggi K; Parson W; Allen M; Marshall C
Forensic Sci Int Genet; 2020 Jan; 44():102205. PubMed ID: 31783338
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Horvath R; Benet-Pagès A; Diebold I
Mol Genet Genomic Med; 2018 Nov; 6(6):1188-1198. PubMed ID: 30406974
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing.
Zaragoza MV; Fass J; Diegoli M; Lin D; Arbustini E
PLoS One; 2010 Aug; 5(8):e12295. PubMed ID: 20808834
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial heteroplasmy in vertebrates using ChIP-sequencing data.
Rensch T; Villar D; Horvath J; Odom DT; Flicek P
Genome Biol; 2016 Jun; 17(1):139. PubMed ID: 27349964
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.
Souren NY; Gerdes LA; Kümpfel T; Lutsik P; Klopstock T; Hohlfeld R; Walter J
Hum Mutat; 2016 Aug; 37(8):765-75. PubMed ID: 27119776
[TBL] [Abstract][Full Text] [Related]
10.
Koolkarnkhai P; Intakham C; Sangthong P; Surat W; Wonnapinij P
Mitochondrial DNA A DNA Mapp Seq Anal; 2019 Dec; 30(8):848-860. PubMed ID: 31766903
[TBL] [Abstract][Full Text] [Related]
11. Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals.
Ye K; Lu J; Ma F; Keinan A; Gu Z
Proc Natl Acad Sci U S A; 2014 Jul; 111(29):10654-9. PubMed ID: 25002485
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial DNA heteroplasmy in cardiac tissue from individuals with and without coronary artery disease.
Hefti E; Blanco JG
Mitochondrial DNA A DNA Mapp Seq Anal; 2018 May; 29(4):587-593. PubMed ID: 28521548
[TBL] [Abstract][Full Text] [Related]
13. Molecular characterization of variants in mitochondrial DNA encoded genes using next generation sequencing analysis and mitochondrial dysfunction in women with PCOS.
Shukla P; Mukherjee S; Patil A; Joshi B
Gene; 2023 Mar; 855():147126. PubMed ID: 36563715
[TBL] [Abstract][Full Text] [Related]
14. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD; Stendel C; McCormick EM; Zolkipli-Cunningham Z; Goldstein AC; Klopstock T; Falk MJ
Hum Mutat; 2019 May; 40(5):499-515. PubMed ID: 30763462
[TBL] [Abstract][Full Text] [Related]
15. Assessing heteroplasmic variant drift in the mtDNA control region of human hairs using an MPS approach.
Gallimore JM; McElhoe JA; Holland MM
Forensic Sci Int Genet; 2018 Jan; 32():7-17. PubMed ID: 29024924
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
Wagner M; Berutti R; Lorenz-Depiereux B; Graf E; Eckstein G; Mayr JA; Meitinger T; Ahting U; Prokisch H; Strom TM; Wortmann SB
J Inherit Metab Dis; 2019 Sep; 42(5):909-917. PubMed ID: 31059585
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.
Legati A; Ghezzi D; Viscomi C
Methods Mol Biol; 2023; 2615():381-395. PubMed ID: 36807805
[TBL] [Abstract][Full Text] [Related]
18. Very low-level heteroplasmy mtDNA variations are inherited in humans.
Guo Y; Li CI; Sheng Q; Winther JF; Cai Q; Boice JD; Shyr Y
J Genet Genomics; 2013 Dec; 40(12):607-15. PubMed ID: 24377867
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.
Nissanka N; Moraes CT
EMBO Rep; 2020 Mar; 21(3):e49612. PubMed ID: 32073748
[TBL] [Abstract][Full Text] [Related]
20. Low frequency mitochondrial DNA heteroplasmy SNPs in blood, retina, and [RPE+choroid] of age-related macular degeneration subjects.
Atilano SR; Udar N; Satalich TA; Udar V; Chwa M; Kenney MC
PLoS One; 2021; 16(1):e0246114. PubMed ID: 33513185
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]