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Journal Abstract Search

328 related items for PubMed ID: 22523091

  • 1. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
    Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L.
    Hum Mol Genet; 2012 Jul 15; 21(14):3237-54. PubMed ID: 22523091
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  • 2. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
    Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S.
    Circ Cardiovasc Genet; 2013 Dec 15; 6(6):543-51. PubMed ID: 24114807
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  • 3. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
    D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.
    J Child Neurol; 2015 Aug 15; 30(9):1211-7. PubMed ID: 25246303
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  • 4. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A, Mitu C, Popescu BO, Bastian AE, Capşa R, Mursă A, Rădoi V, Popescu BA, Jurcuţ R.
    BMC Med Genet; 2020 Sep 29; 21(1):188. PubMed ID: 32993534
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  • 5. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
    Wilding BR, McGrath MJ, Bonne G, Mitchell CA.
    J Cell Sci; 2014 May 15; 127(Pt 10):2269-81. PubMed ID: 24634512
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  • 10. FHL2 expression and variants in hypertrophic cardiomyopathy.
    Friedrich FW, Reischmann S, Schwalm A, Unger A, Ramanujam D, Münch J, Müller OJ, Hengstenberg C, Galve E, Charron P, Linke WA, Engelhardt S, Patten M, Richard P, van der Velden J, Eschenhagen T, Isnard R, Carrier L.
    Basic Res Cardiol; 2014 May 15; 109(6):451. PubMed ID: 25358972
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  • 11. Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury.
    Marian AJ, Roberts R.
    Ann Med; 1998 Aug 15; 30 Suppl 1():24-32. PubMed ID: 9800880
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  • 12. Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1.
    Gossios TD, Lopes LR, Elliott PM.
    Eur J Med Genet; 2013 May 15; 56(5):251-5. PubMed ID: 23500067
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  • 13. Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.
    Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I, Hirata K.
    J Neurol Sci; 2012 Jul 15; 318(1-2):163-7. PubMed ID: 22541254
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  • 14. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
    Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.
    Circ Cardiovasc Genet; 2016 Apr 15; 9(2):130-5. PubMed ID: 26933038
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  • 15. Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.
    Poutanen T, Tikanoja T, Jääskeläinen P, Jokinen E, Silvast A, Laakso M, Kuusisto J.
    Am Heart J; 2006 Mar 15; 151(3):725.e1-725.e9. PubMed ID: 16504640
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  • 18. Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy.
    Riaz M, Park J, Sewanan LR, Ren Y, Schwan J, Das SK, Pomianowski PT, Huang Y, Ellis MW, Luo J, Liu J, Song L, Chen IP, Qiu C, Yazawa M, Tellides G, Hwa J, Young LH, Yang L, Marboe CC, Jacoby DL, Campbell SG, Qyang Y.
    Circulation; 2022 Apr 19; 145(16):1238-1253. PubMed ID: 35384713
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