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Page 1
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: daiger sp. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868. Invest Ophthalmol Vis Sci. 2006. PMID: 16384941 Free PMC article.
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Sullivan LS, et al. Among authors: daiger sp. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64. doi: 10.1167/iovs.05-1443. Invest Ophthalmol Vis Sci. 2006. PMID: 16799052 Free PMC article.
Genetic factors modifying clinical expression of autosomal dominant RP.
Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. Daiger SP, et al. Adv Exp Med Biol. 2006;572:3-8. doi: 10.1007/0-387-32442-9_1. Adv Exp Med Biol. 2006. PMID: 17249547 Free PMC article. Review. No abstract available.
170 results