BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 23716275)

  • 1. Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
    Majer F; Pelak O; Kalina T; Vlaskova H; Dvorakova L; Honzik T; Palecek T; Kuchynka P; Masek M; Zeman J; Elleder M; Sikora J
    J Inherit Metab Dis; 2014 Jan; 37(1):117-24. PubMed ID: 23716275
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 182(1):219-223. PubMed ID: 31729179
    [TBL] [Abstract][Full Text] [Related]  

  • 3. LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
    Majer F; Piherova L; Reboun M; Stara V; Pelak O; Norambuena P; Stranecky V; Krebsova A; Vlaskova H; Dvorakova L; Kmoch S; Kalina T; Kubanek M; Sikora J
    Am J Med Genet A; 2018 Nov; 176(11):2430-2434. PubMed ID: 30194816
    [TBL] [Abstract][Full Text] [Related]  

  • 4. LAMP2 microdeletions in patients with Danon disease.
    Yang Z; Funke BH; Cripe LH; Vick GW; Mancini-Dinardo D; Peña LS; Kanter RJ; Wong B; Westerfield BH; Varela JJ; Fan Y; Towbin JA; Vatta M
    Circ Cardiovasc Genet; 2010 Apr; 3(2):129-37. PubMed ID: 20173215
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.
    Fu D; Wang S; Luo Y; Wu S; Peng D
    ESC Heart Fail; 2023 Aug; 10(4):2479-2486. PubMed ID: 37277924
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 498(2):183-95. PubMed ID: 22365987
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.
    Codron P; Pautot V; Tassin A; Sternberg D; Letournel F; Richard P; Nadaj-Pakleza A
    Rev Neurol (Paris); 2019 Mar; 175(3):201-203. PubMed ID: 30527948
    [No Abstract]   [Full Text] [Related]  

  • 9. 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; 168(4):1309-20. PubMed ID: 16565504
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.
    Xu J; Wang L; Liu X; Dai Q
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00941. PubMed ID: 31464081
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.
    Zhou N; Cui J; Zhao W; Jiang Y; Zhu W; Tang L; Li X; Sun M; Pan C; Shu X
    Mol Genet Genomic Med; 2019 Mar; 7(3):e561. PubMed ID: 30714332
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a
    Meinert M; Englund E; Hedberg-Oldfors C; Oldfors A; Kornhall B; Lundin C; Wittström E
    Ophthalmic Genet; 2019 Jun; 40(3):227-236. PubMed ID: 31264915
    [No Abstract]   [Full Text] [Related]  

  • 13. 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; 11(9):e2216. PubMed ID: 37288668
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 32(11):1355.e23-1355.e30. PubMed ID: 27179547
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Danon disease due to a novel splice mutation in the LAMP2 gene.
    Nadeau A; Therrien C; Karpati G; Sinnreich M
    Muscle Nerve; 2008 Mar; 37(3):338-42. PubMed ID: 18004770
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 90(4):366-71. PubMed ID: 26748608
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease.
    Chen XL; Zhao Y; Ke HP; Liu WT; Du ZF; Zhang XN
    Gene; 2012 Oct; 507(2):174-6. PubMed ID: 22750798
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor.
    Ng KM; Mok PY; Butler AW; Ho JC; Choi SW; Lee YK; Lai WH; Au KW; Lau YM; Wong LY; Esteban MA; Siu CW; Sham PC; Colman A; Tse HF
    Circulation; 2016 Nov; 134(18):1373-1389. PubMed ID: 27678261
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 62(1):77-80. PubMed ID: 29753918
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.