BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 31290619)

  • 1. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
    Pillai NR; AlDhaheri NS; Ghosh R; Lim J; Streff H; Nayak A; Graham BH; Hanchard NA; Elsea SH; Scaglia F
    Am J Med Genet A; 2019 Oct; 179(10):2138-2143. PubMed ID: 31290619
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
    Abu-Libdeh B; Douiev L; Amro S; Shahrour M; Ta-Shma A; Miller C; Elpeleg O; Saada A
    Eur J Hum Genet; 2017 Oct; 25(10):1142-1146. PubMed ID: 28766551
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
    Halperin D; Drabkin M; Wormser O; Yogev Y; Dolgin V; Shorer Z; Gradstein L; Shelef I; Flusser H; Birk OS
    Am J Med Genet A; 2020 Jun; 182(6):1506-1512. PubMed ID: 32232962
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
    Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
    Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
    Hallmann K; Kudin AP; Zsurka G; Kornblum C; Reimann J; Stüve B; Waltz S; Hattingen E; Thiele H; Nürnberg P; Rüb C; Voos W; Kopatz J; Neumann H; Kunz WS
    Brain; 2016 Feb; 139(Pt 2):338-45. PubMed ID: 26685157
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.
    Mkaouar-Rebai E; Ellouze E; Chamkha I; Kammoun F; Triki C; Fakhfakh F
    J Child Neurol; 2011 Jan; 26(1):12-20. PubMed ID: 20525945
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cytochrome c oxidase deficiency.
    Shoubridge EA
    Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Human cytochrome oxidase deficiency.
    Robinson BH
    Pediatr Res; 2000 Nov; 48(5):581-5. PubMed ID: 11044474
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
    Tiranti V; Jaksch M; Hofmann S; Galimberti C; Hoertnagel K; Lulli L; Freisinger P; Bindoff L; Gerbitz KD; Comi GP; Uziel G; Zeviani M; Meitinger T
    Ann Neurol; 1999 Aug; 46(2):161-6. PubMed ID: 10443880
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
    Piro E; Serra G; Antona V; Giuffrè M; Giorgio E; Sirchia F; Schierz IAM; Brusco A; Corsello G
    Ital J Pediatr; 2020 Sep; 46(1):140. PubMed ID: 32972427
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biochemical defects and genetic abnormalities in cytochrome c oxidase of patients with Leigh syndrome.
    Kadenbach B; Possekel S; Hüttemann M; Arnold S
    Biofactors; 1998; 7(3):273-6. PubMed ID: 9568266
    [No Abstract]   [Full Text] [Related]  

  • 12. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
    Williams SL; Taanman JW; Hansíková H; Houst'ková H; Chowdhury S; Zeman J; Houstek J
    Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome.
    Brown RM; Brown GK
    J Inherit Metab Dis; 1996; 19(6):752-60. PubMed ID: 8982948
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
    Poole OV; Everett CM; Gandhi S; Marino S; Bugiardini E; Woodward C; Lam A; Quinlivan R; Hanna MG; Pitceathly RDS
    Mitochondrion; 2019 Jul; 47():294-297. PubMed ID: 30743023
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cytochrome C oxidase deficiency in two siblings with Leigh encephalomyelopathy.
    Miyabayashi S; Narisawa K; Iinuma K; Tada K; Sakai K; Kobayashi K; Kobayashi Y; Morinaga S
    Brain Dev; 1984; 6(4):362-72. PubMed ID: 6093613
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
    Santoro L; Carrozzo R; Malandrini A; Piemonte F; Patrono C; Villanova M; Tessa A; Palmeri S; Bertini E; Santorelli FM
    Neuromuscul Disord; 2000 Aug; 10(6):450-3. PubMed ID: 10899453
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
    Muñoz-Pujol G; Ortigoza-Escobar JD; Paredes-Fuentes AJ; Jou C; Ugarteburu O; Gort L; Yubero D; García-Cazorla A; O'Callaghan M; Campistol J; Muchart J; Yépez VA; Gusic M; Gagneur J; Prokisch H; Artuch R; Ribes A; Urreizti R; Tort F
    Brain Pathol; 2023 May; 33(3):e13134. PubMed ID: 36450274
    [TBL] [Abstract][Full Text] [Related]  

  • 18. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
    Jean J; Christodoulou E; Gai X; Tamrazi B; Vera M; Mitchell WG; Schmidt RJ
    Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217561
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biallelic
    Misceo D; Strømme P; Bitarafan F; Chawla MS; Sheng Y; Bach de Courtade SM; Eide L; Frengen E
    Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674434
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.