918 related articles for article (PubMed ID: 27290639)
1. 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]
2. 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]
3. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
[TBL] [Abstract][Full Text] [Related]
4. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
Kanabus M; Shahni R; Saldanha JW; Murphy E; Plagnol V; Hoff WV; Heales S; Rahman S
J Inherit Metab Dis; 2015 Mar; 38(2):211-9. PubMed ID: 25595726
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Targeted exome sequencing of suspected mitochondrial disorders.
Lieber DS; Calvo SE; Shanahan K; Slate NG; Liu S; Hershman SG; Gold NB; Chapman BA; Thorburn DR; Berry GT; Schmahmann JD; Borowsky ML; Mueller DM; Sims KB; Mootha VK
Neurology; 2013 May; 80(19):1762-70. PubMed ID: 23596069
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Saunders C; Smith L; Wibrand F; Ravn K; Bross P; Thiffault I; Christensen M; Atherton A; Farrow E; Miller N; Kingsmore SF; Ostergaard E
Am J Hum Genet; 2015 Feb; 96(2):258-65. PubMed ID: 25597511
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Tort F; García-Silva MT; Ferrer-Cortès X; Navarro-Sastre A; Garcia-Villoria J; Coll MJ; Vidal E; Jiménez-Almazán J; Dopazo J; Briones P; Elpeleg O; Ribes A
Mol Genet Metab; 2013; 110(1-2):73-7. PubMed ID: 23707711
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O; Goldsher D; Nousbeck J; Fuchs-Telem D; Cohen-Katsenelson K; Iancu TC; Manov I; Saada A; Sprecher E; Mandel H
Am J Med Genet A; 2013 Sep; 161A(9):2204-15. PubMed ID: 23918762
[TBL] [Abstract][Full Text] [Related]
14. HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy R; Morin G; Nouri MA; Brandau O; Saadi NW; Nouri MA; van den Broek F; Prokisch H; Mayr JA; Wortmann SB
Neuropediatrics; 2018 Dec; 49(6):373-378. PubMed ID: 30114719
[TBL] [Abstract][Full Text] [Related]
15. Revisiting mitochondrial diagnostic criteria in the new era of genomics.
Witters P; Saada A; Honzik T; Tesarova M; Kleinle S; Horvath R; Goldstein A; Morava E
Genet Med; 2018 Apr; 20(4):444-451. PubMed ID: 29261183
[TBL] [Abstract][Full Text] [Related]
16. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M; Thompson K; Hardy SA; Barbosa IA; Besse A; Anagnostou ME; White K; Davey T; Simpson MA; Champion M; Enns G; Schelley S; Lightowlers RN; Chrzanowska-Lightowlers ZM; McFarland R; Deshpande C; Bonnen PE; Taylor RW
J Inherit Metab Dis; 2017 Jan; 40(1):121-130. PubMed ID: 27696117
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S; Reinson K; Pajusalu S; Murumets Ü; Õiglane-Shlik E; Rein R; Talvik I; Rodenburg RJ; Õunap K
Mol Genet Metab Rep; 2018 Jun; 15():80-89. PubMed ID: 30009132
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
