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 *

180 related articles for article (PubMed ID: 10407787)

  • 1. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
    Barth PG; Wanders RJ; Vreken P; Janssen EA; Lam J; Baas F
    J Inherit Metab Dis; 1999 Jun; 22(4):555-67. PubMed ID: 10407787
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.
    Barth PG; Wanders RJ; Vreken P
    J Pediatr; 1999 Sep; 135(3):273-6. PubMed ID: 10484787
    [No Abstract]   [Full Text] [Related]  

  • 3. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
    Ronvelia D; Greenwood J; Platt J; Hakim S; Zaragoza MV
    Mol Genet Metab; 2012 Nov; 107(3):428-32. PubMed ID: 23031367
    [TBL] [Abstract][Full Text] [Related]  

  • 4. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts.
    Barth PG; Van den Bogert C; Bolhuis PA; Scholte HR; van Gennip AH; Schutgens RB; Ketel AG
    J Inherit Metab Dis; 1996; 19(2):157-60. PubMed ID: 8739954
    [No Abstract]   [Full Text] [Related]  

  • 5. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
    Fan Y; Steller J; Gonzalez IL; Kulik W; Fox M; Chang R; Westerfield BA; Batra AS; Wang RY; Gallant NM; Pena LS; Wang H; Huang T; Bhuta S; Penny DJ; McCabe ER; Kimonis VE
    JIMD Rep; 2013; 11():99-106. PubMed ID: 23606313
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Barth syndrome (X linked cardioskeletal myopathy and neutropenia)].
    Nakamura A; Ikeda S
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():389-91. PubMed ID: 12013894
    [No Abstract]   [Full Text] [Related]  

  • 7. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.
    Bolhuis PA; Hensels GW; Hulsebos TJ; Baas F; Barth PG
    Am J Hum Genet; 1991 Mar; 48(3):481-5. PubMed ID: 1998334
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
    Sakamoto O; Kitoh T; Ohura T; Ohya N; Iinuma K
    J Hum Genet; 2002; 47(5):229-31. PubMed ID: 12032589
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
    Vreken P; Valianpour F; Nijtmans LG; Grivell LA; Plecko B; Wanders RJ; Barth PG
    Biochem Biophys Res Commun; 2000 Dec; 279(2):378-82. PubMed ID: 11118295
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
    Barth PG; Valianpour F; Bowen VM; Lam J; Duran M; Vaz FM; Wanders RJ
    Am J Med Genet A; 2004 May; 126A(4):349-54. PubMed ID: 15098233
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
    Kelley RI; Cheatham JP; Clark BJ; Nigro MA; Powell BR; Sherwood GW; Sladky JT; Swisher WP
    J Pediatr; 1991 Nov; 119(5):738-47. PubMed ID: 1719174
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
    Cantlay AM; Shokrollahi K; Allen JT; Lunt PW; Newbury-Ecob RA; Steward CG
    J Pediatr; 1999 Sep; 135(3):311-5. PubMed ID: 10484795
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Barth syndrome: clinical observations and genetic linkage studies.
    Christodoulou J; McInnes RR; Jay V; Wilson G; Becker LE; Lehotay DC; Platt BA; Bridge PJ; Robinson BH; Clarke JT
    Am J Med Genet; 1994 Apr; 50(3):255-64. PubMed ID: 8042670
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.
    Zegallai HM; Hatch GM
    Mol Cell Biochem; 2021 Mar; 476(3):1605-1629. PubMed ID: 33415565
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New clinical and molecular insights on Barth syndrome.
    Ferri L; Donati MA; Funghini S; Malvagia S; Catarzi S; Lugli L; Ragni L; Bertini E; Vaz FM; Cooper DN; Guerrini R; Morrone A
    Orphanet J Rare Dis; 2013 Feb; 8():27. PubMed ID: 23409742
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
    Valianpour F; Wanders RJ; Overmars H; Vreken P; Van Gennip AH; Baas F; Plecko B; Santer R; Becker K; Barth PG
    J Pediatr; 2002 Nov; 141(5):729-33. PubMed ID: 12410207
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
    Adès LC; Gedeon AK; Wilson MJ; Latham M; Partington MW; Mulley JC; Nelson J; Lui K; Sillence DO
    Am J Med Genet; 1993 Feb; 45(3):327-34. PubMed ID: 8434619
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.
    Yoo TY; Kim MR; Son JS; Lee R; Bae SH; Chung S; Kim KS; Seong MW; Park SS
    J Cardiovasc Ultrasound; 2016 Jun; 24(2):153-7. PubMed ID: 27358708
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cardiomyopathy in a child with neutropenia and motor delay.
    McCanta AC; Chang AC; Weiner K
    Curr Opin Pediatr; 2008 Oct; 20(5):605-7. PubMed ID: 18781126
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.