BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

94 related articles for article (PubMed ID: 12431256)

  • 1. Genetic heterogeneity in Malattia Leventinese.
    Toto L; Parodi MB; Baralle F; Casari G; Ravalico G; Romano M
    Clin Genet; 2002 Nov; 62(5):399-403. PubMed ID: 12431256
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
    Zhang T; Xie X; Cao G; Jiang H; Wu S; Su Z; Zhang K; Lu F
    Retina; 2014 Dec; 34(12):2462-71. PubMed ID: 25111685
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
    Hulleman JD
    Adv Exp Med Biol; 2016; 854():153-8. PubMed ID: 26427406
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.
    Nguyen A; Hulleman JD
    Exp Eye Res; 2015 Jan; 130():66-72. PubMed ID: 25481286
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Fundus autofluorescence in patients with hereditary macular dystrophies, malattia leventinese, familial dominant and aged-related drusen].
    von Rückmann A; Schmidt KG; Fitzke FW; Bird AC; Jacobi KW
    Klin Monbl Augenheilkd; 1998 Aug; 213(2):81-6. PubMed ID: 9782465
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.
    Hulleman JD; Kelly JW
    FASEB J; 2015 Feb; 29(2):565-75. PubMed ID: 25389134
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
    Stone EM; Lotery AJ; Munier FL; Héon E; Piguet B; Guymer RH; Vandenburgh K; Cousin P; Nishimura D; Swiderski RE; Silvestri G; Mackey DA; Hageman GS; Bird AC; Sheffield VC; Schorderet DF
    Nat Genet; 1999 Jun; 22(2):199-202. PubMed ID: 10369267
    [TBL] [Abstract][Full Text] [Related]  

  • 8. EFEMP1 is not associated with sporadic early onset drusen.
    Sauer CG; White K; Kellner U; Rudolph G; Jurklies B; Pauleikhoff D; Weber BH
    Ophthalmic Genet; 2001 Mar; 22(1):27-34. PubMed ID: 11262647
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.
    Garland DL; Fernandez-Godino R; Kaur I; Speicher KD; Harnly JM; Lambris JD; Speicher DW; Pierce EA
    Hum Mol Genet; 2014 Jan; 23(1):52-68. PubMed ID: 23943789
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Optical coherence tomography in Malattia Leventinese].
    Gaillard MC; Wolfensberger TJ; Uffer S; Mantel I; Pournaras JA; Schorderet DF; Munier FL
    Klin Monbl Augenheilkd; 2005 Mar; 222(3):180-5. PubMed ID: 15785976
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
    Fu L; Garland D; Yang Z; Shukla D; Rajendran A; Pearson E; Stone EM; Zhang K; Pierce EA
    Hum Mol Genet; 2007 Oct; 16(20):2411-22. PubMed ID: 17666404
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dominant radial drusen and Arg345Trp EFEMP1 mutation.
    Matsumoto M; Traboulsi EI
    Am J Ophthalmol; 2001 Jun; 131(6):810-2. PubMed ID: 11384588
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.
    Guymer RH; McNeil R; Cain M; Tomlin B; Allen PJ; Dip CL; Baird PN
    Clin Exp Ophthalmol; 2002 Dec; 30(6):419-23. PubMed ID: 12427233
    [TBL] [Abstract][Full Text] [Related]  

  • 14. First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
    Sheyanth IN; Lolas IB; Okkels H; Kiruparajan LP; Abildgaard SK; Petersen MB
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1652. PubMed ID: 33689237
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family].
    Meins M; Kohlhaas M; Richard G; Gal A
    Klin Monbl Augenheilkd; 1998 Mar; 212(3):154-8. PubMed ID: 9592740
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
    Edwards AO; Klein ML; Berselli CB; Hejtmancik JF; Rust K; Wirtz MK; Weleber RG; Acott TS
    Am J Ophthalmol; 1998 Sep; 126(3):417-24. PubMed ID: 9744375
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family.
    Zhang K; Sun X; Chen Y; Zhong Q; Lin L; Gao Y; Hong F
    BMC Ophthalmol; 2018 Dec; 18(1):318. PubMed ID: 30541486
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of the EFEMP1 gene in individuals and families with early onset drusen.
    Narendran N; Guymer RH; Cain M; Baird PN
    Eye (Lond); 2005 Jan; 19(1):11-5. PubMed ID: 15218514
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic definition of malattia leventinese in a family from Colombia.
    Gelvez N; Hurtado-Villa P; Flórez S; Brieke AC; Rodríguez F; Bertolotto AM; Tamayo ML
    Biomedica; 2021 Sep; 41(3):388-395. PubMed ID: 34559486
    [TBL] [Abstract][Full Text] [Related]  

  • 20. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
    Vincent AL; de Karolyi B; Patel DV; Wheeldon CE; McGhee CN
    Br J Ophthalmol; 2010 Jul; 94(7):836-42. PubMed ID: 19948560
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.