Debra K. Breuer, Ph.D.
Affiliations: | 2002 | University of Michigan, Ann Arbor, Ann Arbor, MI |
Area:
GeneticsGoogle:
"Debra Breuer"Parents
Sign in to add mentor| Anand Swaroop | grad student | 2002 | University of Michigan | |
| (Understanding the mechanism(s) of retinal degeneration in X -linked retinitis pigmentosa.) | ||||
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Publications
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| Friedman JS, Ray JW, Waseem N, et al. (2009) Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics. 84: 792-800 |
| Iannaccone A, Breuer DK, Wang XF, et al. (2003) Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. Journal of Medical Genetics. 40: e118 |
| Andréasson S, Breuer DK, Eksandh L, et al. (2003) Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genetics. 24: 215-23 |
| Aguirre GD, Yashar BM, John SK, et al. (2002) Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Experimental Eye Research. 75: 431-43 |
| Breuer DK, Yashar BM, Filippova E, et al. (2002) A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. American Journal of Human Genetics. 70: 1545-54 |
| Yan D, Swain PK, Breuer D, et al. (1998) Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). The Journal of Biological Chemistry. 273: 19656-63 |