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Journal Abstract Search

322 related items for PubMed ID: 27460667

  • 1. Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.
    Fu L, Luo S, Cai S, Hong W, Guo Y, Wu J, Liu T, Zhao C, Li F, Huang H, Huang M, Wang J.
    Am J Cardiol; 2016 Sep 15; 118(6):888-894. PubMed ID: 27460667
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  • 2. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
    Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE.
    Circulation; 2005 Sep 13; 112(11):1612-7. PubMed ID: 16144992
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  • 3. A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
    Gourzi P, Pantou MP, Gkouziouta A, Kaklamanis L, Tsiapras D, Zygouri C, Constantoulakis P, Adamopoulos S, Degiannis D.
    Eur J Med Genet; 2019 Jan 13; 62(1):77-80. PubMed ID: 29753918
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  • 7. Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
    Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C.
    Am J Pathol; 2006 Apr 13; 168(4):1309-20. PubMed ID: 16565504
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  • 10. Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
    Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J.
    Gene; 2012 May 01; 498(2):183-95. PubMed ID: 22365987
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  • 12. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.
    Wang Y, Bai M, Zhang P, Peng Y, Chen Z, He Z, Xu J, Zhu Y, Yan D, Wang R, Zhang Z.
    Mol Genet Genomic Med; 2023 Sep 01; 11(9):e2216. PubMed ID: 37288668
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  • 15. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
    Dougu N, Joho S, Shan L, Shida T, Matsuki A, Uese K, Hirono K, Ichida F, Tanaka K, Nishino I, Inoue H.
    Circ J; 2009 Feb 01; 73(2):376-80. PubMed ID: 19057086
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  • 17. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
    Novelli V, Bisignani A, Pelargonio G, Primiano G, Narducci ML, Palmieri V, Tiziano FD, Zeppilli P, Servidei S, Crea F, Genuardi M.
    BMC Cardiovasc Disord; 2020 Apr 05; 20(1):156. PubMed ID: 32248794
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  • 18. Danon disease: a case report and literature review.
    Xu J, Li Z, Liu Y, Zhang X, Niu F, Zheng H, Wang L, Kang L, Wang K, Xu B.
    Diagn Pathol; 2021 May 01; 16(1):39. PubMed ID: 33933120
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  • 20. Danon disease: case report and detection of new mutation.
    Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H.
    J Inherit Metab Dis; 2009 Dec 01; 32 Suppl 1():S115-22. PubMed ID: 19588270
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