BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 21680270)

  • 1. Mitochondrial hepatopathies in the newborn period.
    Fellman V; Kotarsky H
    Semin Fetal Neonatal Med; 2011 Aug; 16(4):222-8. PubMed ID: 21680270
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
    Levéen P; Kotarsky H; Mörgelin M; Karikoski R; Elmér E; Fellman V
    Hepatology; 2011 Feb; 53(2):437-47. PubMed ID: 21274865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disorders of the mitochondria.
    Treem WR; Sokol RJ
    Semin Liver Dis; 1998; 18(3):237-53. PubMed ID: 9773424
    [TBL] [Abstract][Full Text] [Related]  

  • 4. BCS1L gene mutation causing GRACILE syndrome: case report.
    Kasapkara ÇS; Tümer L; Ezgü FS; Küçükçongar A; Hasanoğlu A
    Ren Fail; 2014 Jul; 36(6):953-4. PubMed ID: 24655110
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.
    Dimauro S; Garone C
    Semin Fetal Neonatal Med; 2011 Aug; 16(4):181-9. PubMed ID: 21620786
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
    Jackson CB; Bauer MF; Schaller A; Kotzaeridou U; Ferrarini A; Hahn D; Chehade H; Barbey F; Tran C; Gallati S; Haeberli A; Eggimann S; Bonafé L; Nuoffer JM
    Eur J Pediatr; 2016 Apr; 175(4):517-25. PubMed ID: 26563427
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
    Antonicka H; Sasarman F; Kennaway NG; Shoubridge EA
    Hum Mol Genet; 2006 Jun; 15(11):1835-46. PubMed ID: 16632485
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.
    Gibson K; Halliday JL; Kirby DM; Yaplito-Lee J; Thorburn DR; Boneh A
    Pediatrics; 2008 Nov; 122(5):1003-8. PubMed ID: 18977979
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
    Blázquez A; Gil-Borlado MC; Morán M; Verdú A; Cazorla-Calleja MR; Martín MA; Arenas J; Ugalde C
    Neuromuscul Disord; 2009 Feb; 19(2):143-6. PubMed ID: 19162478
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.
    Goncalves I; Hermans D; Chretien D; Rustin P; Munnich A; Saudubray JM; Van Hoof F; Reding R; de Ville de Goyet J; Otte JB
    J Hepatol; 1995 Sep; 23(3):290-4. PubMed ID: 8550993
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Liver disease in mitochondrial disorders.
    Lee WS; Sokol RJ
    Semin Liver Dis; 2007 Aug; 27(3):259-73. PubMed ID: 17682973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
    Navarro-Sastre A; Martín-Hernández E; Campos Y; Quintana E; Medina E; de Las Heras RS; Lluch M; Muñoz A; del Hoyo P; Martín R; Gort L; Briones P; Ribes A
    Mol Genet Metab; 2008 Jun; 94(2):234-9. PubMed ID: 18329934
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial hepatopathies.
    Bandyopadhyay SK; Dutta A
    J Assoc Physicians India; 2005 Nov; 53():973-8. PubMed ID: 16515238
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH; Naviaux RK
    Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial hepatopathies: advances in genetics and pathogenesis.
    Lee WS; Sokol RJ
    Hepatology; 2007 Jun; 45(6):1555-65. PubMed ID: 17538929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
    Tegelberg S; Tomašić N; Kallijärvi J; Purhonen J; Elmér E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
    Orphanet J Rare Dis; 2017 Apr; 12(1):73. PubMed ID: 28427446
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Mitochondrial disorders].
    Munnich A; de Lonlay P; Rötig A; Rustin P
    Bull Acad Natl Med; 2009 Jan; 193(1):19-41; discussion 41-3. PubMed ID: 19718979
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
    El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
    Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.