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PUBMED FOR HANDHELDS

Journal Abstract Search


226 related items for PubMed ID: 31264915

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  • 2. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
    Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P.
    Acta Ophthalmol; 2021 Feb; 99(1):61-68. PubMed ID: 32533651
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  • 4. 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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  • 6. 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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  • 10. 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 05; 11(9):e2216. PubMed ID: 37288668
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  • 13. Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
    Yang JM, Lee BH, Nam GB, Kim JG, Lee JY.
    Genes (Basel); 2020 Nov 16; 11(11):. PubMed ID: 33207664
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  • 14. 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 Nov 16; 25(5):423-31. PubMed ID: 27497751
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  • 20. A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease.
    Türkmen H, Uysal F, Bostan ÖM.
    Cardiol Young; 2023 Aug 16; 33(8):1448-1450. PubMed ID: 36601912
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