369 related articles for article (PubMed ID: 33629572)
1. 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]
2. 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]
3. 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]
4. Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS; Yoo T; Lee M; Lee Y; Jeon E; Kim SY; Lim BC; Kim KJ; Choi M; Chae JH
Clin Genet; 2020 Apr; 97(4):586-594. PubMed ID: 32020600
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.
Hu C; Li X; Zhao L; Shi Y; Zhou S; Wu B; Wang Y
Eur J Med Genet; 2020 Aug; 63(8):103898. PubMed ID: 32348839
[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. Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo GH; Oh A; Kim EN; Lee Y; Park J; Kim T; Lim YM; Kim GH; Kim CJ; Yoo HW; Kang E; Lee BH
J Hum Genet; 2019 Nov; 64(11):1117-1125. PubMed ID: 31451716
[TBL] [Abstract][Full Text] [Related]
8. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Dinwiddie DL; Smith LD; Miller NA; Atherton AM; Farrow EG; Strenk ME; Soden SE; Saunders CJ; Kingsmore SF
Genomics; 2013 Sep; 102(3):148-56. PubMed ID: 23631824
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.
Sun C; Wu S; Chen R; Liu J; Wang J; Ma Y; Yuan Z; Li Y
Mol Genet Genomic Med; 2022 Jun; 10(6):e1943. PubMed ID: 35388601
[TBL] [Abstract][Full Text] [Related]
14. Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY; Kwong AKY; Chan KLS; Fung JLF; Yu MHC; Mak CCY; Yeung KS; Rodenburg RJT; Smeitink JAM; Chan R; Tsoi T; Hui J; Wong SSN; Tai SM; Chan VCM; Ma CK; Fung STH; Wu SP; Chak WK; Chung BHY; Fung CW
Hum Genomics; 2020 Sep; 14(1):28. PubMed ID: 32907636
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Clinical and genetic characteristics of children with Leigh syndrome].
Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS
Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M; Kamps R; van Oevelen J; Boesten I; Jongen E; de Koning B; Scholte HR; de Angst I; Schoonderwoerd K; Sefiani A; Ratbi I; Coppieters W; Karim L; de Coo R; van den Bosch B; Smeets H
Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
[TBL] [Abstract][Full Text] [Related]
20. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW; Pyle A; Griffin H; Blakely EL; Duff J; He L; Smertenko T; Alston CL; Neeve VC; Best A; Yarham JW; Kirschner J; Schara U; Talim B; Topaloglu H; Baric I; Holinski-Feder E; Abicht A; Czermin B; Kleinle S; Morris AA; Vassallo G; Gorman GS; Ramesh V; Turnbull DM; Santibanez-Koref M; McFarland R; Horvath R; Chinnery PF
JAMA; 2014 Jul; 312(1):68-77. PubMed ID: 25058219
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]