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227 related items for PubMed ID: 11857753

  • 1. Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
    Cuda G, Mussari A, Concolino D, Costanzo FS, Strisciuglio P.
    Hum Mutat; 2002 Mar; 19(3):309-10. PubMed ID: 11857753
    [Abstract] [Full Text] [Related]

  • 2. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
    Zhu D, Burke C, Leslie A, Nicholson GA.
    Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211
    [Abstract] [Full Text] [Related]

  • 3. [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene].
    Wang SX, Zou YB, Fu CY, Song L, Wang H, Wang JZ, Song XD, Chen JZ, Hui RT.
    Zhonghua Yi Xue Za Zhi; 2007 Feb 06; 87(6):371-4. PubMed ID: 17456375
    [Abstract] [Full Text] [Related]

  • 4. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
    Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ.
    J Mol Med (Berl); 2001 Feb 06; 78(11):626-32. PubMed ID: 11269509
    [Abstract] [Full Text] [Related]

  • 5. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
    Pandolfo M.
    Methods Mol Med; 2006 Feb 06; 126():197-216. PubMed ID: 16930014
    [Abstract] [Full Text] [Related]

  • 6. Hypertrophic cardiomyopathy in Friedreich's ataxia.
    Fayssoil A, Nardi O, Orlikowski D, Annane D.
    Int J Cardiol; 2008 Jul 21; 127(3):e122-3. PubMed ID: 17659792
    [Abstract] [Full Text] [Related]

  • 7. A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
    Gerull B, Osterziel KJ, Witt C, Dietz R, Thierfelder L.
    Hum Mutat; 1998 Jul 21; 11(2):179-82. PubMed ID: 9482583
    [Abstract] [Full Text] [Related]

  • 8. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
    Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M.
    Nat Genet; 2001 Feb 21; 27(2):181-6. PubMed ID: 11175786
    [Abstract] [Full Text] [Related]

  • 9. Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.
    Pasquale F, Syrris P, Kaski JP, Mogensen J, McKenna WJ, Elliott P.
    Circ Cardiovasc Genet; 2012 Feb 01; 5(1):10-7. PubMed ID: 22144547
    [Abstract] [Full Text] [Related]

  • 10. [A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy].
    An FS, Zhang Y, Li DQ, Yang XS, Li L, Zhang C, Yan ML, Wang Y, An GP.
    Zhonghua Yi Xue Za Zhi; 2004 Aug 17; 84(16):1340-3. PubMed ID: 15387941
    [Abstract] [Full Text] [Related]

  • 11. Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.
    Quercia N, Somers GR, Halliday W, Kantor PF, Banwell B, Yoon G.
    Neuromuscul Disord; 2010 May 17; 20(5):340-2. PubMed ID: 20338762
    [Abstract] [Full Text] [Related]

  • 12. Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families.
    Gimeno JR, Monserrat L, Pérez-Sánchez I, Marín F, Caballero L, Hermida-Prieto M, Castro A, Valdés M.
    Rev Esp Cardiol; 2009 Dec 17; 62(12):1473-7. PubMed ID: 20038417
    [Abstract] [Full Text] [Related]

  • 13. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
    Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E.
    Eur J Hum Genet; 2004 Nov 17; 12(11):979-82. PubMed ID: 15340363
    [Abstract] [Full Text] [Related]

  • 14. A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
    Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F.
    J Cardiovasc Med (Hagerstown); 2006 Aug 17; 7(8):601-7. PubMed ID: 16858239
    [Abstract] [Full Text] [Related]

  • 15. Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.
    Theopistou A, Anastasakis A, Miliou A, Rigopoulos A, Toutouzas P, Stefanadis C.
    Am J Cardiol; 2004 Jul 15; 94(2):246-9. PubMed ID: 15246915
    [Abstract] [Full Text] [Related]

  • 16. [Friedreich ataxia and diabetes mellitus--family study].
    Melo M, Fagulha A, Barros L, Guimarães J, Carrilho F, Carvalheiro M.
    Acta Med Port; 2005 Jul 15; 18(6):479-83. PubMed ID: 16684489
    [Abstract] [Full Text] [Related]

  • 17. Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
    McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH.
    Mov Disord; 2001 Nov 15; 16(6):1153-8. PubMed ID: 11748752
    [Abstract] [Full Text] [Related]

  • 18. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
    Hanna MG, Davis MB, Sweeney MG, Noursadeghi M, Ellis CJ, Elliot P, Wood NW, Marsden CD.
    Mov Disord; 1998 Mar 15; 13(2):339-40. PubMed ID: 9539351
    [Abstract] [Full Text] [Related]

  • 19. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
    Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.
    J Am Coll Cardiol; 2004 Dec 21; 44(12):2315-25. PubMed ID: 15607392
    [Abstract] [Full Text] [Related]

  • 20. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
    Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM.
    Heart; 2008 Nov 21; 94(11):1478-84. PubMed ID: 18467357
    [Abstract] [Full Text] [Related]

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