Citations for
1DHRD, EFEMP1
Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventinese.
Kundzewicz A, Munier F, Matter JM.
Adv Exp Med Biol 613:277-81. No abstract available. PMID: 18188955 2008
2EFEMP1, DHRD
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.
Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD.
Hum Mol Genet 16(20):3423-32. Epub 2007 Jul 30. 2007
3EFEMP1, DHRD
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 16(20):3411-22. Epub 2007 Jul 30. 2007
4DHRD, EFEMP1
Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
Marmorstein L.
Ophthalmic Genet 25(3):219-26. No abstract available. 2004
5EFEMP1, DHRD
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
Proc Natl Acad Sci U S A 99(20):13067-72. Epub 2002 Sep 19. 2002
6DHRD
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
Kermani S, et al.
Hum Genet 104 : 77-82. 1999
7DHRD, SIX3
Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.
Granadino B, et al.
Genomics 55 : 100-105. 1999
8CNC1, DHRD
Radiation hybrid mapping of chromosomal region 2p15-p16: integration of expressed and polymorphic sequences maps at the carney complex (CNC) and doyne honeycomb retinal dystrophy (DHRD) loci.
Taymans SE, et al.
Genomics 56(3):344-9. 1999
9DHRD, EFEMP1
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Stone EM, et al.
Nat Genet 22(2):199-202. 1999
10DHRD
Malattia leventinese : refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
Edwards AO, et al.
Am J Ophthalmol 126 : 417-424. 1998
11DHRD
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.
Hon E, et al.
Arch Ophthalmol 114 : 193-198. 1996
12DHRD
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
Gregory CY, et al.
Hum Mol Genet 5 : 1055-1059. 1996