| 1 | DHRD, EFEMP1
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| Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventinese.
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| Kundzewicz A, Munier F, Matter JM.
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| Adv Exp Med Biol 613:277-81. No abstract available. PMID: 18188955 2008
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| 2 | EFEMP1, DHRD
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| 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.
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| Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD.
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| Hum Mol Genet 16(20):3423-32. Epub 2007 Jul 30. 2007
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| 3 | EFEMP1, DHRD
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| The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
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| Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA.
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| Hum Mol Genet 16(20):3411-22. Epub 2007 Jul 30. 2007
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| 4 | DHRD, EFEMP1
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| Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
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| Marmorstein L.
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| Ophthalmic Genet 25(3):219-26. No abstract available. 2004
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| 5 | EFEMP1, DHRD
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| Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
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| Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
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| Proc Natl Acad Sci U S A 99(20):13067-72. Epub 2002 Sep 19. 2002
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| 6 | DHRD
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| Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
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| Kermani S, et al.
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| Hum Genet 104 : 77-82. 1999
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| 7 | DHRD, SIX3
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| Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.
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| Granadino B, et al.
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| Genomics 55 : 100-105. 1999
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| 8 | CNC1, DHRD
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| 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.
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| Taymans SE, et al.
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| Genomics 56(3):344-9. 1999
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| 9 | DHRD, EFEMP1
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| A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
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| Stone EM, et al.
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| Nat Genet 22(2):199-202. 1999
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| 10 | DHRD
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| Malattia leventinese : refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
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| Edwards AO, et al.
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| Am J Ophthalmol 126 : 417-424. 1998
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| 11 | DHRD
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| Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.
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| HŽon E, et al.
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| Arch Ophthalmol 114 : 193-198. 1996
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| 12 | DHRD
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| The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
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| Gregory CY, et al.
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| Hum Mol Genet 5 : 1055-1059. 1996
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