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

62 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Among authors: lehmann oj. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
Fox's in development and disease.
Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS. Lehmann OJ, et al. Trends Genet. 2003 Jun;19(6):339-44. doi: 10.1016/S0168-9525(03)00111-2. Trends Genet. 2003. PMID: 12801727 Review.
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA; UK10K Consortium; Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A. Liu C, et al. Among authors: lehmann oj. Hum Mol Genet. 2016 Apr 1;25(7):1382-91. doi: 10.1093/hmg/ddw020. Epub 2016 Jan 24. Hum Mol Genet. 2016. PMID: 26908622 Free PMC article.
BMP3 is a novel locus involved in the causality of ocular coloboma.
Fox SC, Widen SA, Asai-Coakwell M, Havrylov S, Benson M, Prichard LB, Baddam P, Graf D, Lehmann OJ, Waskiewicz AJ. Fox SC, et al. Among authors: lehmann oj. Hum Genet. 2022 Aug;141(8):1385-1407. doi: 10.1007/s00439-022-02430-3. Epub 2022 Jan 28. Hum Genet. 2022. PMID: 35089417
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ. Ye M, et al. Among authors: lehmann oj. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28. Hum Mol Genet. 2010. PMID: 19864492
GDF6, a novel locus for a spectrum of ocular developmental anomalies.
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Among authors: lehmann oj. Am J Hum Genet. 2007 Feb;80(2):306-15. doi: 10.1086/511280. Epub 2006 Dec 29. Am J Hum Genet. 2007. PMID: 17236135 Free PMC article.
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Among authors: lehmann oj. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19129173 Free PMC article.
62 results