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Journal Abstract Search

250 related items for PubMed ID: 27497751

  • 1. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
    Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P.
    Cardiovasc Pathol; 2016; 25(5):423-31. PubMed ID: 27497751
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  • 3. 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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  • 5. 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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  • 6. Danon disease: focusing on heart.
    Cheng Z, Fang Q.
    J Hum Genet; 2012 Jul 01; 57(7):407-10. PubMed ID: 22695892
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  • 7. The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.
    Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A.
    Clin Genet; 2016 Oct 01; 90(4):366-71. PubMed ID: 26748608
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  • 8. 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 01; 62(1):77-80. PubMed ID: 29753918
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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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  • 14. Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
    Csányi B, Popoiu A, Hategan L, Hegedűs Z, Nagy V, Rácz K, Hőgye M, Sághy L, Iványi B, Csanády M, Forster T, Sepp R.
    Can J Cardiol; 2016 Nov 01; 32(11):1355.e23-1355.e30. PubMed ID: 27179547
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  • 15. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
    Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlaskova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J.
    Am J Med Genet A; 2020 Jan 01; 182(1):219-223. PubMed ID: 31729179
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  • 16. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
    Meinert M, Englund E, Hedberg-Oldfors C, Oldfors A, Kornhall B, Lundin C, Wittström E.
    Ophthalmic Genet; 2019 Jun 01; 40(3):227-236. PubMed ID: 31264915
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  • 20. Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy.
    Dvornikov AV, Wang M, Yang J, Zhu P, Le T, Lin X, Cao H, Xu X.
    J Mol Cell Cardiol; 2019 Aug 01; 133():199-208. PubMed ID: 31228518
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