These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

109 related articles for article (PubMed ID: 19396829)

  • 1. A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.
    Singh HR; Yang Z; Siddiqui S; Peña LS; Westerfield BH; Fan Y; Towbin JA; Vatta M
    Am J Med Genet A; 2009 May; 149A(5):1082-5. PubMed ID: 19396829
    [No Abstract]   [Full Text] [Related]  

  • 2. BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
    Avdjieva-Tzavella DM; Todorova AP; Kathom H M ; Ivanova MB; Yordanova IT; Todorov TP; Litvinenko IO; Dasheva-Dimitrova AT; Tincheva RS
    Genet Couns; 2016; 27(4):495-501. PubMed ID: 30226969
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.
    Bachou T; Giannakopoulos A; Trapali C; Vazeou A; Kattamis A
    Blood Cells Mol Dis; 2009; 42(3):262-4. PubMed ID: 19261493
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
    Lalani SR; Zhang J; Schaaf CP; Brown CW; Magoulas P; Tsai AC; El-Gharbawy A; Wierenga KJ; Bartholomew D; Fong CT; Barbaro-Dieber T; Kukolich MK; Burrage LC; Austin E; Keller K; Pastore M; Fernandez F; Lotze T; Wilfong A; Purcarin G; Zhu W; Craigen WJ; McGuire M; Jain M; Cooney E; Azamian M; Bainbridge MN; Muzny DM; Boerwinkle E; Person RE; Niu Z; Eng CM; Lupski JR; Gibbs RA; Beaudet AL; Yang Y; Wang MC; Xia F
    Am J Hum Genet; 2014 Nov; 95(5):579-83. PubMed ID: 25439098
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A muscle-specific DNase I-like gene in human Xq28.
    Parrish JE; Ciccodicola A; Wehhert M; Cox GF; Chen E; Nelson DL
    Hum Mol Genet; 1995 Sep; 4(9):1557-64. PubMed ID: 8541839
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
    Marziliano N; Mannarino S; Nespoli L; Diegoli M; Pasotti M; Malattia C; Grasso M; Pilotto A; Porcu E; Raisaro A; Raineri C; Dore R; Maggio PP; Brega A; Arbustini E
    Am J Med Genet A; 2007 May; 143A(9):907-15. PubMed ID: 17394203
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cardiac and clinical phenotype in Barth syndrome.
    Spencer CT; Bryant RM; Day J; Gonzalez IL; Colan SD; Thompson WR; Berthy J; Redfearn SP; Byrne BJ
    Pediatrics; 2006 Aug; 118(2):e337-46. PubMed ID: 16847078
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.
    Kirwin SM; Vinette KM; Schwartz SB; Funanage VL; Gonzalez IL
    Fertil Steril; 2007 Apr; 87(4):976.e5-7. PubMed ID: 17241629
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
    Vesel S; Stopar-Obreza M; Trebusak-Podkrajsek K; Jazbec J; Podnar T; Battelino T
    Eur J Hum Genet; 2003 Jan; 11(1):97-101. PubMed ID: 12529714
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Barth syndrome in a female patient.
    Cosson L; Toutain A; Simard G; Kulik W; Matyas G; Guichet A; Blasco H; Maakaroun-Vermesse Z; Vaillant MC; Le Caignec C; Chantepie A; Labarthe F
    Mol Genet Metab; 2012 May; 106(1):115-20. PubMed ID: 22410210
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
    Spencer CT; Byrne BJ; Gewitz MH; Wechsler SB; Kao AC; Gerstenfeld EP; Merliss AD; Carboni MP; Bryant RM
    Pediatr Cardiol; 2005; 26(5):632-7. PubMed ID: 16235007
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cardiolipin metabolism and Barth Syndrome.
    Hauff KD; Hatch GM
    Prog Lipid Res; 2006 Mar; 45(2):91-101. PubMed ID: 16442164
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.
    Sweeney RT; Davis GJ; Noonan JA
    Congenit Heart Dis; 2008; 3(6):443-8. PubMed ID: 19037987
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
    Bleyl SB; Mumford BR; Thompson V; Carey JC; Pysher TJ; Chin TK; Ward K
    Am J Hum Genet; 1997 Oct; 61(4):868-72. PubMed ID: 9382097
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of heart failure and dilated cardiomyopathy.
    Osterziel KJ; Perrot A
    Herz; 2002 Dec; 27(8):816-8. PubMed ID: 12596715
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
    McKenzie M; Lazarou M; Thorburn DR; Ryan MT
    J Mol Biol; 2006 Aug; 361(3):462-9. PubMed ID: 16857210
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.
    Qiao L; Liu Y; Ge J; Li T
    Indian Pediatr; 2019 Sep; 56(9):792-794. PubMed ID: 31638014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A firstborn child with multiple anomalies.
    Zorn E
    Hosp Pract (Off Ed); 1984 Oct; 19(10):119, 122. PubMed ID: 6434553
    [No Abstract]   [Full Text] [Related]  

  • 19. Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
    Abidi A; Mignon-Ravix C; Cacciagli P; Girard N; Milh M; Villard L
    Eur J Hum Genet; 2016 Apr; 24(4):615-8. PubMed ID: 26173968
    [TBL] [Abstract][Full Text] [Related]  

  • 20. AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome.
    Wang S; Li Y; Xu Y; Ma Q; Lin Z; Schlame M; Bezzerides VJ; Strathdee D; Pu WT
    Circ Res; 2020 Apr; 126(8):1024-1039. PubMed ID: 32146862
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.