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Abbreviation : ML
Long Form : Malattia Leventinese
No. Year Title Co-occurring Abbreviation
2018 Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. DHRD
2015 Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. cbEGF, WT
2013 A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretion. WT
2013 Association of reticular pseudodrusen and early onset drusen. CD, EOD, FA, FAF, ICGA, LCD, RPE, SD-OCT
2012 Multimodal imaging of autosomal dominant drusen. FA, RPE, SD-OCT, SDD
2011 Angiography features of early onset drusen. BLD, EOD, FA, ICGA, LCD
2010 A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. DHRD, mfERG, VF
2007 Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration. AMD, RPE
2006 Indocyanine green angiography features of Malattia leventinese. FA, ICG
10  2006 Optical coherent tomography features of malattia leventinese. OCT
11  2005 Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression. DHRD, ER, UPR, VEGF, WT
12  2005 [Optical coherence tomography in Malattia Leventinese]. OCT
13  2004 Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. AMD, DHRD
14  2004 Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. AMD, SFD, TIMP-3
15  2003 Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen. ERGs, ZMD
16  2002 Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. AMD, RPE
17  2002 Genetic heterogeneity in Malattia Leventinese. EFEMP1
18  1999 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. AMD, DHRD, RPE