BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 33937156)

  • 1. Case Report and Review of the Literature: A New and a Recurrent Variant in the
    Kušíková K; Feichtinger RG; Csillag B; Kalev OK; Weis S; Duba HC; Mayr JA; Weis D
    Front Pediatr; 2021; 9():660076. PubMed ID: 33937156
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
    Bruni F; Di Meo I; Bellacchio E; Webb BD; McFarland R; Chrzanowska-Lightowlers ZMA; He L; Skorupa E; Moroni I; Ardissone A; Walczak A; Tyynismaa H; Isohanni P; Mandel H; Prokisch H; Haack T; Bonnen PE; Enrico B; Pronicka E; Ghezzi D; Taylor RW; Diodato D
    Hum Mutat; 2018 Apr; 39(4):563-578. PubMed ID: 29314548
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neonatal encephalocardiomyopathy caused by mutations in VARS2.
    Baertling F; Alhaddad B; Seibt A; Budaeus S; Meitinger T; Strom TM; Mayatepek E; Schaper J; Prokisch H; Haack TB; Distelmaier F
    Metab Brain Dis; 2017 Feb; 32(1):267-270. PubMed ID: 27502409
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.
    Ma K; Xie M; He X; Liu G; Lu X; Peng Q; Zhong B; Li N
    BMC Med Genet; 2018 Nov; 19(1):202. PubMed ID: 30458719
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
    Chin HL; Goh DL; Wang FS; Tay SKH; Heng CK; Donnini C; Baruffini E; Pines O
    J Mol Med (Berl); 2019 Nov; 97(11):1557-1566. PubMed ID: 31529142
    [TBL] [Abstract][Full Text] [Related]  

  • 6. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
    Diodato D; Melchionda L; Haack TB; Dallabona C; Baruffini E; Donnini C; Granata T; Ragona F; Balestri P; Margollicci M; Lamantea E; Nasca A; Powell CA; Minczuk M; Strom TM; Meitinger T; Prokisch H; Lamperti C; Zeviani M; Ghezzi D
    Hum Mutat; 2014 Aug; 35(8):983-9. PubMed ID: 24827421
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
    Pereira S; Adrião M; Sampaio M; Basto MA; Rodrigues E; Vilarinho L; Teles EL; Alonso I; Leão M
    JIMD Rep; 2018; 42():113-119. PubMed ID: 29478218
    [TBL] [Abstract][Full Text] [Related]  

  • 8. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
    Begliuomini C; Magli G; Di Rocco M; Santorelli FM; Cassandrini D; Nesti C; Deodato F; Diodato D; Casellato S; Simula DM; Dessì V; Eusebi A; Carta A; Sotgiu S
    BMC Med Genet; 2019 May; 20(1):77. PubMed ID: 31064326
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel VARS2 gene variant in a patient with epileptic encephalopathy.
    Ruzman L; Kolic I; Radic Nisevic J; Ruzic Barsic A; Skarpa Prpic I; Prpic I
    Ups J Med Sci; 2019 Nov; 124(4):273-277. PubMed ID: 31623496
    [No Abstract]   [Full Text] [Related]  

  • 10. VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation.
    Kayvanpour E; Wisdom M; Lackner MK; Sedaghat-Hamedani F; Boeckel JN; Müller M; Eghbalian R; Dudek J; Doroudgar S; Maack C; Frey N; Meder B
    Int J Mol Sci; 2022 Jun; 23(13):. PubMed ID: 35806332
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
    Nomura A; Tada H; Teramoto R; Konno T; Hodatsu A; Won HH; Kathiresan S; Ino H; Fujino N; Yamagishi M; Hayashi K
    J Cardiol; 2016 Feb; 67(2):133-9. PubMed ID: 26443374
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenicity Analysis of a Novel Variant in
    Zhang Q; Ouyang Q; Xiang J; Li H; Lv H; An Y
    Genes (Basel); 2023 Feb; 14(3):. PubMed ID: 36980825
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    Wu XH; Lin SZ; Zhou YQ; Wang WQ; Li JY; Chen QD
    World J Clin Cases; 2022 Aug; 10(24):8749-8754. PubMed ID: 36157797
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
    Mazurova S; Magner M; Kucerova-Vidrova V; Vondrackova A; Stranecky V; Pristoupilova A; Zamecnik J; Hansikova H; Zeman J; Tesarova M; Honzik T
    Cardiol Young; 2017 Jul; 27(5):936-944. PubMed ID: 27839525
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.
    Li L; Bainbridge MN; Tan Y; Willerson JT; Marian AJ
    Circ Res; 2017 Mar; 120(7):1084-1090. PubMed ID: 28223422
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
    Novelli V; Bisignani A; Pelargonio G; Primiano G; Narducci ML; Palmieri V; Tiziano FD; Zeppilli P; Servidei S; Crea F; Genuardi M
    BMC Cardiovasc Disord; 2020 Apr; 20(1):156. PubMed ID: 32248794
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
    Zhou N; Qin S; Liu Y; Tang L; Zhao W; Pan C; Qiu Z; Wang X; Shu X
    Eur J Med Genet; 2018 Aug; 61(8):434-441. PubMed ID: 29524613
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A; Mitu C; Popescu BO; Bastian AE; Capşa R; Mursă A; Rădoi V; Popescu BA; Jurcuţ R
    BMC Med Genet; 2020 Sep; 21(1):188. PubMed ID: 32993534
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
    Distelmaier F; Haack TB; Catarino CB; Gallenmüller C; Rodenburg RJ; Strom TM; Baertling F; Meitinger T; Mayatepek E; Prokisch H; Klopstock T
    Neurogenetics; 2015 Oct; 16(4):319-23. PubMed ID: 25797485
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.