Lehmann OJ - Search Results

1

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. Aldinger KA, et al. Among authors: lehmann oj. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668217 Free PMC article.

2

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. Chanda B, et al. Among authors: lehmann oj. Hum Mol Genet. 2008 Nov 15;17(22):3446-58. doi: 10.1093/hmg/ddn238. Epub 2008 Aug 11. Hum Mol Genet. 2008. PMID: 18694899 Free PMC article.

3

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC. Maclean K, et al. Among authors: lehmann oj. Am J Med Genet A. 2005 Feb 1;132A(4):381-5. doi: 10.1002/ajmg.a.30274. Am J Med Genet A. 2005. PMID: 15654696 Review.

4

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.

French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ. French CR, et al. Among authors: lehmann oj. J Clin Invest. 2014 Nov;124(11):4877-81. doi: 10.1172/JCI75109. Epub 2014 Sep 24. J Clin Invest. 2014. PMID: 25250569 Free PMC article.

5

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS. Lehmann OJ, et al. Am J Hum Genet. 2000 Nov;67(5):1129-35. doi: 10.1016/S0002-9297(07)62943-7. Epub 2000 Sep 27. Am J Hum Genet. 2000. PMID: 11007653 Free PMC article.

6

Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth.

Seo S, Singh HP, Lacal PM, Sasman A, Fatima A, Liu T, Schultz KM, Losordo DW, Lehmann OJ, Kume T. Seo S, et al. Among authors: lehmann oj. Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):2015-20. doi: 10.1073/pnas.1109540109. Epub 2011 Dec 14. Proc Natl Acad Sci U S A. 2012. PMID: 22171010 Free PMC article.

7

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T. Lehmann OJ, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9. Invest Ophthalmol Vis Sci. 2002. PMID: 12036988

8

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.

9

The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.

Chrystal PW, French CR, Jean F, Havrylov S, van Baarle S, Peturson AM, Xu P, Crump JG, Pilgrim DB, Lehmann OJ, Waskiewicz AJ. Chrystal PW, et al. Among authors: lehmann oj. Genes (Basel). 2021 Jan 26;12(2):170. doi: 10.3390/genes12020170. Genes (Basel). 2021. PMID: 33530637 Free PMC article.

10

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.

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