R01 EY007142-12A2/EY/NEI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1999	3
2000	2
2001	4
2002	2
2003	4
2004	1
2005	2
2006	5
2007	1
2008	1
2024	0

1

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Sullivan LS, Gire AI, Birch DG, Heckenlively JR, Bowne SJ. Daiger SP, et al. Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23. Adv Exp Med Biol. 2008. PMID: 18188946 Free PMC article. No abstract available.

2

Perspective on genes and mutations causing retinitis pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Arch Ophthalmol. 2007 Feb;125(2):151-8. doi: 10.1001/archopht.125.2.151. Arch Ophthalmol. 2007. PMID: 17296890 Free PMC article. Review.

3

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.

4

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Sullivan LS, et al. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440. Invest Ophthalmol Vis Sci. 2006. PMID: 17003455 Free PMC article.

5

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

Bowne SJ, Liu Q, Sullivan LS, Zhu J, Spellicy CJ, Rickman CB, Pierce EA, Daiger SP. Bowne SJ, et al. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3754-65. doi: 10.1167/iovs.06-0207. Invest Ophthalmol Vis Sci. 2006. PMID: 16936083 Free PMC article.

6

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. 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.

7

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. 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.

8

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Kozma P, Hughbanks-Wheaton DK, Locke KG, Fish GE, Gire AI, Spellicy CJ, Sullivan LS, Bowne SJ, Daiger SP, Birch DG. Kozma P, et al. Am J Ophthalmol. 2005 Nov;140(5):858-867. doi: 10.1016/j.ajo.2005.05.027. Epub 2005 Oct 7. Am J Ophthalmol. 2005. PMID: 16214101 Free PMC article.

9

Genetics. Was the Human Genome Project worth the effort?

Daiger SP. Daiger SP. Science. 2005 Apr 15;308(5720):362-4. doi: 10.1126/science.1111655. Epub 2005 Mar 15. Science. 2005. PMID: 15769856 Free PMC article. No abstract available.

10

On the role of IMPDH1 in retinal degeneration.

Kennan A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF, Humphries P. Kennan A, et al. Adv Exp Med Biol. 2003;533:13-8. doi: 10.1007/978-1-4615-0067-4_2. Adv Exp Med Biol. 2003. PMID: 15180242 Free PMC article. No abstract available.

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