BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 20335238)

  • 21. Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.
    Vrbacký M; Kovalčíková J; Chawengsaksophak K; Beck IM; Mráček T; Nůsková H; Sedmera D; Papoušek F; Kolář F; Sobol M; Hozák P; Sedlacek R; Houštěk J
    Hum Mol Genet; 2016 Nov; 25(21):4674-4685. PubMed ID: 28173120
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.
    Stojanović V; Doronjski A
    J Pediatr Endocrinol Metab; 2013; 26(1-2):151-4. PubMed ID: 23382305
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.
    Fattal-Valevski A; Kesler A; Sela BA; Nitzan-Kaluski D; Rotstein M; Mesterman R; Toledano-Alhadef H; Stolovitch C; Hoffmann C; Globus O; Eshel G
    Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
    Knuf M; Faber J; Huth RG; Freisinger P; Zepp F; Kampmann C
    Acta Paediatr; 2007 Jan; 96(1):130-2. PubMed ID: 17187620
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].
    Zhang Y; Wang ZX; Niu SL; Xu YF; Pei P; Yuan Y; Yang YL; Qi Y
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2005 Feb; 27(1):77-80. PubMed ID: 15782498
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
    Häberle J; Schmidt E; Pauli S; Rapp B; Christensen E; Wermuth B; Koch HG
    Hum Mutat; 2003 Apr; 21(4):444. PubMed ID: 12655559
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Expression and processing of the TMEM70 protein.
    Hejzlarová K; Tesařová M; Vrbacká-Čížková A; Vrbacký M; Hartmannová H; Kaplanová V; Nosková L; Kratochvílová H; Buzková J; Havlíčková V; Zeman J; Kmoch S; Houštěk J
    Biochim Biophys Acta; 2011 Jan; 1807(1):144-9. PubMed ID: 20937241
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
    Baban A; Adorisio R; Corica B; Rizzo C; Calì F; Semeraro M; Taurisano R; Magliozzi M; Carrozzo R; Parisi F; Dallapiccola B; Vaz FM; Drago F; Dionisi-Vici C
    Am J Med Genet A; 2020 Jan; 182(1):64-70. PubMed ID: 31729175
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
    Rubio-Gozalbo ME; Dijkman KP; van den Heuvel LP; Sengers RC; Wendel U; Smeitink JA
    Hum Mutat; 2000; 15(6):522-32. PubMed ID: 10862082
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
    Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H
    Pediatrics; 2004 Oct; 114(4):925-31. PubMed ID: 15466086
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
    Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA
    Pediatrics; 2007 Apr; 119(4):722-33. PubMed ID: 17403843
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
    Sue CM; Karadimas C; Checcarelli N; Tanji K; Papadopoulou LC; Pallotti F; Guo FL; Shanske S; Hirano M; De Vivo DC; Van Coster R; Kaplan P; Bonilla E; DiMauro S
    Ann Neurol; 2000 May; 47(5):589-95. PubMed ID: 10805329
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
    Shieh JT; Swidler P; Martignetti JA; Ramirez MC; Balboni I; Kaplan J; Kennedy J; Abdul-Rahman O; Enns GM; Sandborg C; Slavotinek A; Hoyme HE
    Pediatrics; 2006 Nov; 118(5):e1485-92. PubMed ID: 17043134
    [TBL] [Abstract][Full Text] [Related]  

  • 35. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
    Pulkes T; Liolitsa D; Eunson LH; Rose M; Nelson IP; Rahman S; Poulton J; Marchington DR; Landon DN; Debono AG; Morgan-Hughes JA; Hanna MG
    Neuromuscul Disord; 2005 May; 15(5):364-71. PubMed ID: 15833431
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    Hutchison WM; Thyagarajan D; Poulton J; Marchington DR; Kirby DM; Manji SS; Dahl HH
    Arch Neurol; 2005 Dec; 62(12):1920-3. PubMed ID: 16344351
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
    Davey KM; Parboosingh JS; McLeod DR; Chan A; Casey R; Ferreira P; Snyder FF; Bridge PJ; Bernier FP
    J Med Genet; 2006 May; 43(5):385-93. PubMed ID: 16055927
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.
    Diogo L; Grazina M; Garcia P; Rebelo O; Veiga MA; Cuevas J; Vilarinho L; de Almeida IT; Oliveira CR
    Pediatr Neurol; 2009 May; 40(5):351-6. PubMed ID: 19380071
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
    Tay SK; Shanske S; Kaplan P; DiMauro S
    Arch Neurol; 2004 Jun; 61(6):950-2. PubMed ID: 15210538
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Mitochondrial encephalomyopathies: 3243 mutation as a central matter].
    Goto Y; Nonaka I
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1425-6. PubMed ID: 8752418
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.