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Page 1
Multimodal Imaging in Wagner Syndrome.
Thomas AS, Branham K, Van Gelder RN, Daiger SP, Sullivan LS, Bowne SJ, Heckenlively JR, Pennesi ME. Thomas AS, et al. Among authors: bowne sj. Ophthalmic Surg Lasers Imaging Retina. 2016 Jun 1;47(6):574-9. doi: 10.3928/23258160-20160601-10. Ophthalmic Surg Lasers Imaging Retina. 2016. PMID: 27327288 Free PMC article.
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: bowne sj. Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732. Nat Genet. 2000. PMID: 10615133 Free PMC article.
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Among authors: bowne sj. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR; RP1 Consortium. Daiger SP, et al. Among authors: bowne sj. Adv Exp Med Biol. 2003;533:1-11. doi: 10.1007/978-1-4615-0067-4_1. Adv Exp Med Biol. 2003. PMID: 15180241 Free PMC article. Review. No abstract available.
62 results