Associated Papers
Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
Emfietzoglou M et al.
Acta Ophthalmologica, 2026
Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.
Zhang Q et al.
The Canadian Journal of Cardiology, 2025
Clinical features of pediatric Danon disease and the importance of early diagnosis.
Gandaeva L et al.
International Journal of Cardiology, 2023
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Hadid Y et al.
Harefuah, 2023
Clinical and molecular characterization of seven patients with Danon disease.
Wang XY et al.
Experimental and Therapeutic Medicine, 2021
Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series.
Mulder BA et al.
European Heart Journal. Case Reports, 2019
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.
López-Sainz Á et al.
Revista Espanola De Cardiologia (english Ed.), 2019
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C et al.
Plos One, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
LAMP2 microdeletions in patients with Danon disease.
Yang Z et al.
Circulation. Cardiovascular Genetics, 2010
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
Maron BJ et al.
Jama, 2009
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 et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0