Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

293 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Among authors: birch dg. 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: birch dg. Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732. Nat Genet. 2000. PMID: 10615133 Free PMC article.
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: birch dg. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396
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: birch dg. 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.
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.
293 results