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Volume 2012, Issue 1
  • ISSN: 2305-7823
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References

  1. Lloyd-Jones DM, Larson MG and Leip EP  et al.  Lifetime risk for developing congestive heart failure. Circulation. 2002; 106::30683072.
    [Google الباحث العلمي]
  2. Roger VL, Go AS and Lloyd-Jones DM  et al.  Heart disease and stroke statistics 2011 update: A report from the American Heart Association. Circulation. 2011; 123::e18e209.
    [Google الباحث العلمي]
  3. Maron BJ, Towbin JA and Thiene G  et al.  Contemporary definitions and classification of the cardiomyopathies. An American Heart Association scientific statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113::18071816.
    [Google الباحث العلمي]
  4. Petretta M, Pirozzi F, Sasso L, Paglia A and Bonaduce D Review and metaanalysis of the frequency of familial dilated cardiomyoapthy. Am J Cardiol. 2011; 108::11711176.
    [Google الباحث العلمي]
  5. Lee DS, Pencina MJ and Benjamin EJ  et al.  Association of parental heart failure with risk of heart failure in offspring. N Engl J Med. 2006; 355::138147.
    [Google الباحث العلمي]
  6. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR and Towbin JA Genetic evaluation of cardiomyopathy – a Heart Failure Society of America Practice Guideline. J Cardiac Fail. 2009; 15::8397.
    [Google الباحث العلمي]
  7. Van Berlo JH, de Voogt WG and van der Kooi AJ  et al.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med. 2005; 83::7983.
    [Google الباحث العلمي]
  8. Pasotti M, Klersy C and Pilotto A  et al.  Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol. 2008; 52::12501260.
    [Google الباحث العلمي]
  9. Fatkin D, Otway R and Richmond Z Genetics of dilated cardiomyopathy. Heart Fail Clin. 2010; 6::129140.
    [Google الباحث العلمي]
  10. Hershberger RE and Siegfried JD Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2011; 57::16411649.
    [Google الباحث العلمي]
  11. Fatkin D, MacRae C and Sasaki T  et al.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999; 341::17151724.
    [Google الباحث العلمي]
  12. McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E and Mestroni L Familial Cardiomyopathy Registry Research Group. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation. 2004; 110::21632167.
    [Google الباحث العلمي]
  13. Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ and Anderson JL Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005; 293::447454.
    [Google الباحث العلمي]
  14. Arbustini E, Diegoli M and Morbini P  et al.  Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Coll Cardiol. 2000; 35::7, 17601768.
    [Google الباحث العلمي]
  15. Feng J, Yan J and Buzin CH  et al.  Comprehensive mutation screening of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol. 2002; 40::11201124.
    [Google الباحث العلمي]
  16. Schonberger J, Wang L and Shin JT  et al.  Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005; 37::418422.
    [Google الباحث العلمي]
  17. Gerull B, Gramlich M and Atherton J  et al.  Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002; 30::201204.
    [Google الباحث العلمي]
  18. Itoh-Satoh M, Hayashi T and Nishi T  et al.  Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun. 2002; 291::385393.
    [Google الباحث العلمي]
  19. Herman DS, Lam L and Taylor MR  et al.  Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012; 366::619628.
    [Google الباحث العلمي]
  20. Fatkin D and Graham RM Molecular mechanisms of inherited cardiomyopathies. Physiol Rev. 2002; 82::945980.
    [Google الباحث العلمي]
  21. Watkins H, Ashrafian H and Redwood C Inherited cardiomyopathies. N Engl J Med. 2011; 364::16431656.
    [Google الباحث العلمي]
  22. Baig MK, Goldman JH, Caforio AL, Coonar AS, Keeling PJ and McKenna WJ Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol. 1998; 31::195201.
    [Google الباحث العلمي]
  23. Crispell KA, Wray A, Ni H, Nauman DJ and Hershberger RE Clinical profiles of four large pedigrees with familial dilated cardiomyopathy. Preliminary recommendations for clinical practice. J Am Coll Cardiol. 1999; 34::837847.
    [Google الباحث العلمي]
  24. Michels VV, Olson TM, Miller FA, Ballman KV, Rosales AG and Driscoll DJ Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy. Am J Cardiol. 2003; 91::13891392.
    [Google الباحث العلمي]
  25. Mahon NG, Murphy RT, MacRae CA, Caforio AL, Elliott PM and McKenna WJ Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med. 2005; 143::108115.
    [Google الباحث العلمي]
  26. Fatkin D, Yeoh T and Hayward CS  et al.  Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy. Circ Cardiovasc Genet. 2011; 4::342348.
    [Google الباحث العلمي]
  27. Matsumura Y, Elliott PM, Mahon NG, Virdee MS, Doi Y and McKenna WJ Familial dilated cardiomyopathy: assessment of left ventricular systolic and diastolic function using Doppler tissue imaging in asymptomatic relatives with left ventricular enlargement. Heart. 2006; 92::405406.
    [Google الباحث العلمي]
  28. Sakata K, Ino H and Fujino N  et al.  Exercise-induced systolic dysfunction in patients with non-obstructive hypertrophic cardiomyopathy and mutations in the cardiac troponin genes. Heart. 2008; 94::12821287.
    [Google الباحث العلمي]
  29. McDonagh TA, Robb SD and Murdoch DR  et al.  Biochemical detection of left ventricular systolic dysfunction. Lancet. 1998; 351::913.
    [Google الباحث العلمي]
  30. Caforio AL, Mahon NG and Baig MK  et al.  Prospective familial assessment in dilated cardiomyopathy. Cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation. 2007; 115::7683.
    [Google الباحث العلمي]
  31. Koikkalainen JR, Antial M and Lotjonen JMP  et al.  Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data. Radiology. 2008; 249::8896.
    [Google الباحث العلمي]
  32. Chandar S, Yeo LS and Leimena C  et al.  Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathy. Circ Res. 2010; 106::573582.
    [Google الباحث العلمي]
  33. Muchir A, Shan J, Bonne G, Lehnart SE and Worman HJ Inhibition of extracellular signal-regulate kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Hum Mol Genet. 2009; 18::241247.
    [Google الباحث العلمي]
  34. Stenson PD, Ball EV and Howells K  et al.  The Human Gene Mutation database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics. 2009; 4::6972.
    [Google الباحث العلمي]
  35. Kryukov GV, Pennacchio LA and Sunyaev SR Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet. 2007; 80::727739.
    [Google الباحث العلمي]
  36. Bamshad MJ, Ng SB and Bigham AW  et al.  Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011; 12::745755.
    [Google الباحث العلمي]
  37. The 1000 Genomes Project Consortium  A map of human genome variation from population-scale sequencing. Nature. 2010; 467::10611073.
    [Google الباحث العلمي]
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