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 *

239 related articles for article (PubMed ID: 16919490)

  • 1. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
    Korman SH; Pitt JJ; Boneh A; Dweikat I; Zater M; Meiner V; Gutman A; Brivet M
    Mol Genet Metab; 2006 Dec; 89(4):332-8. PubMed ID: 16919490
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ; Mallory JM; Roe DS; Brivet M; Strobel GD; Jones KM; Ding JH; Roe CR
    Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
    Ogawa A; Yamamoto S; Kanazawa M; Takayanagi M; Hasegawa S; Kohno Y
    J Hum Genet; 2000; 45(1):52-5. PubMed ID: 10697964
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
    Vatanavicharn N; Yamada K; Aoyama Y; Fukao T; Densupsoontorn N; Jirapinyo P; Sathienkijkanchai A; Yamaguchi S; Wasant P
    Brain Dev; 2015 Aug; 37(7):698-703. PubMed ID: 25459972
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
    Rubio-Gozalbo ME; Bakker JA; Waterham HR; Wanders RJ
    Mol Aspects Med; 2004; 25(5-6):521-32. PubMed ID: 15363639
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
    Habib A; Azize NAA; Rahman SA; Yakob Y; Suberamaniam V; Nazri MIBA; Abdullah Sani H; Ch'ng GS; Yin LH; Olpin S; Lock-Hock N
    Clin Biochem; 2021 Dec; 98():48-53. PubMed ID: 34626609
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
    Fukushima T; Kaneoka H; Yasuno T; Sasaguri Y; Tokuyasu T; Tokoro K; Fukao T; Saito T
    J Hum Genet; 2013 Dec; 58(12):788-93. PubMed ID: 24088670
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    Wang GL; Wang J; Douglas G; Browning M; Hahn S; Ganesh J; Cox S; Aleck K; Schmitt ES; Zhang W; Wong LJ
    Mol Genet Metab; 2011 Aug; 103(4):349-57. PubMed ID: 21605995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
    Smeets RJ; Smeitink JA; Semmekrot BA; Scholte HR; Wanders RJ; van den Heuvel LP
    J Hum Genet; 2003; 48(1):8-13. PubMed ID: 12560872
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
    Korman SH; Gutman A; Brooks R; Sinnathamby T; Gregersen N; Andresen BS
    Mol Genet Metab; 2004 Jun; 82(2):121-9. PubMed ID: 15171999
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
    Hsu BY; Iacobazzi V; Wang Z; Harvie H; Chalmers RA; Saudubray JM; Palmieri F; Ganguly A; Stanley CA
    Mol Genet Metab; 2001; 74(1-2):248-55. PubMed ID: 11592821
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Null mutations and lethal congenital form of glycogen storage disease type IV.
    Assereto S; van Diggelen OP; Diogo L; Morava E; Cassandrini D; Carreira I; de Boode WP; Dilling J; Garcia P; Henriques M; Rebelo O; ter Laak H; Minetti C; Bruno C
    Biochem Biophys Res Commun; 2007 Sep; 361(2):445-50. PubMed ID: 17662246
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
    Burwinkel B; Kreuder J; Schweitzer S; Vorgerd M; Gempel K; Gerbitz KD; Kilimann MW
    Biochem Biophys Res Commun; 1999 Aug; 261(2):484-7. PubMed ID: 10425211
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
    Watanabe H; Orii KE; Fukao T; Song XQ; Aoyama T; IJlst L; Ruiter J; Wanders RJ; Kondo N
    Hum Mutat; 2000; 15(5):430-8. PubMed ID: 10790204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
    Hahn SH; Krasnewich D; Brantly M; Kvittingen EA; Gahl WA
    Hum Mutat; 1995; 6(1):66-73. PubMed ID: 7550234
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
    Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
    Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
    Oppliger T; Thöny B; Kluge C; Matasovic A; Heizmann CW; Ponzone A; Spada M; Blau N
    Hum Mutat; 1997; 10(1):25-35. PubMed ID: 9222757
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.