205 related articles for article (PubMed ID: 30872186)
1. Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.
Schoonen M; Smuts I; Louw R; Elson JL; van Dyk E; Jonck LM; Rodenburg RJT; van der Westhuizen FH
J Mol Diagn; 2019 May; 21(3):503-513. PubMed ID: 30872186
[TBL] [Abstract][Full Text] [Related]
2. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A; Reyes A; Nasca A; Invernizzi F; Lamantea E; Tiranti V; Garavaglia B; Lamperti C; Ardissone A; Moroni I; Robinson A; Ghezzi D; Zeviani M
Biochim Biophys Acta; 2016 Aug; 1857(8):1326-1335. PubMed ID: 26968897
[TBL] [Abstract][Full Text] [Related]
3. Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K; Burnytė B; Ambrozaitytė L; Utkus A
Orphanet J Rare Dis; 2023 Oct; 18(1):307. PubMed ID: 37784170
[TBL] [Abstract][Full Text] [Related]
4. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C; Silva L; Pereira C; Vieira L; Leão Teles E; Rodrigues E; Campos T; Janeiro P; Gaspar A; Dupont J; Bandeira A; Martins E; Magalhães M; Sequeira S; Vieira JP; Santos H; Vilarinho S; Vilarinho L
Mitochondrion; 2019 Jul; 47():309-317. PubMed ID: 30831263
[TBL] [Abstract][Full Text] [Related]
7. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP; Smith PM; Pyle A; Neeve VC; Tuppen HA; Schara U; Talim B; Topaloglu H; Holinski-Feder E; Abicht A; Czermin B; Lochmüller H; McFarland R; Chinnery PF; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW; Horvath R
Brain; 2011 Jan; 134(Pt 1):183-95. PubMed ID: 21169334
[TBL] [Abstract][Full Text] [Related]
8. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E; Piekutowska-Abramczuk D; Ciara E; Trubicka J; Rokicki D; Karkucińska-Więckowska A; Pajdowska M; Jurkiewicz E; Halat P; Kosińska J; Pollak A; Rydzanicz M; Stawinski P; Pronicki M; Krajewska-Walasek M; Płoski R
J Transl Med; 2016 Jun; 14(1):174. PubMed ID: 27290639
[TBL] [Abstract][Full Text] [Related]
9. Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Dong HL; Ma Y; Li QF; Du YC; Yang L; Chen S; Wu ZY
CNS Neurosci Ther; 2019 Jan; 25(1):21-29. PubMed ID: 29756269
[TBL] [Abstract][Full Text] [Related]
10. Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.
Levy MA; Kerkhof J; Belmonte FR; Kaufman BA; Bhai P; Brady L; Bursztyn LLCD; Tarnopolsky M; Rupar T; Sadikovic B
Am J Med Genet A; 2021 Feb; 185(2):486-499. PubMed ID: 33300680
[TBL] [Abstract][Full Text] [Related]
11. MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M; Hume S; Omar F; Koo D; Barnes H; Khan M; Aman S; Wei XC; Alfuhaid H; McDonald R; McDonald L; Newell C; Sparkes R; Hittel D; Khan A
Mol Genet Metab; 2020; 131(1-2):66-82. PubMed ID: 32980267
[TBL] [Abstract][Full Text] [Related]
12. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M; Tokuzawa Y; Kishita Y; Nyuzuki H; Moriyama Y; Mizuno Y; Hirata T; Yatsuka Y; Yamashita-Sugahara Y; Nakachi Y; Kato H; Okuda A; Tamaru S; Borna NN; Banshoya K; Aigaki T; Sato-Miyata Y; Ohnuma K; Suzuki T; Nagao A; Maehata H; Matsuda F; Higasa K; Nagasaki M; Yasuda J; Yamamoto M; Fushimi T; Shimura M; Kaiho-Ichimoto K; Harashima H; Yamazaki T; Mori M; Murayama K; Ohtake A; Okazaki Y
PLoS Genet; 2016 Jan; 12(1):e1005679. PubMed ID: 26741492
[TBL] [Abstract][Full Text] [Related]
13. Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Vasta V; Merritt JL; Saneto RP; Hahn SH
Pediatr Int; 2012 Oct; 54(5):585-601. PubMed ID: 22494076
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
Meldau S; Owen EP; Khan K; Riordan GT
J Clin Pathol; 2022 Jan; 75(1):34-38. PubMed ID: 33115810
[TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE; Compton AG; Hershman SG; Lim SC; Lieber DS; Tucker EJ; Laskowski A; Garone C; Liu S; Jaffe DB; Christodoulou J; Fletcher JM; Bruno DL; Goldblatt J; Dimauro S; Thorburn DR; Mootha VK
Sci Transl Med; 2012 Jan; 4(118):118ra10. PubMed ID: 22277967
[TBL] [Abstract][Full Text] [Related]
16. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M; Chaussenot A; Rouzier C; Ait-El-Mkadem S; Fragaki K; Paquis-Flucklinger V; Bannwarth S
BMC Med Genet; 2018 Apr; 19(1):57. PubMed ID: 29625556
[TBL] [Abstract][Full Text] [Related]
17. Nuclear gene defects in mitochondrial disorders.
Scaglia F
Methods Mol Biol; 2012; 837():17-34. PubMed ID: 22215538
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing of suspected mitochondrial patients in clinical practice.
Wortmann SB; Koolen DA; Smeitink JA; van den Heuvel L; Rodenburg RJ
J Inherit Metab Dis; 2015 May; 38(3):437-43. PubMed ID: 25735936
[TBL] [Abstract][Full Text] [Related]
19. Searching for nuclear-mitochondrial genes.
Chinnery PF
Trends Genet; 2003 Feb; 19(2):60-2. PubMed ID: 12547509
[TBL] [Abstract][Full Text] [Related]
20. The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C; Pereira C; Silva L; Laranjeira M; Lopes A; Neiva R; Rodrigues E; Campos T; Martins E; Bandeira A; Coelho M; Magalhães M; Damásio J; Gaspar A; Janeiro P; Gomes AL; Ferreira AC; Jacinto S; Vieira JP; Diogo L; Santos H; Mendonça C; Vilarinho L
Front Cell Dev Biol; 2024; 12():1331351. PubMed ID: 38465286
[No Abstract] [Full Text] [Related]
[Next] [New Search]