Toomes C - Search Results

1

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

Abdelhamed ZA, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ. Abdelhamed ZA, et al. Among authors: toomes c. Dis Model Mech. 2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7. Dis Model Mech. 2015. PMID: 26035863 Free PMC article.

2

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.

Murton NJ, French L, Toomes C, Joseph SS, Rehman I, Hopkins BL, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: toomes c. Cytogenet Cell Genet. 2001;92(1-2):97-102. doi: 10.1159/000056876. Cytogenet Cell Genet. 2001. PMID: 11306804

3

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989

4

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF. Marchbank NJ, et al. Among authors: toomes c. J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47. J Med Genet. 2002. PMID: 12161614 Free PMC article. No abstract available.

5

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Powell BL, Toomes C, Scott S, Yeung A, Marchbank NJ, Spry PG, Lumb R, Inglehearn CF, Churchill AJ. Powell BL, et al. Among authors: toomes c. Mol Vis. 2003 Sep 22;9:460-4. Mol Vis. 2003. PMID: 14551537 Free article.

6

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF. Toomes C, et al. Br J Ophthalmol. 2005 Feb;89(2):194-7. doi: 10.1136/bjo.2004.042507. Br J Ophthalmol. 2005. PMID: 15665352 Free PMC article.

7

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C. Downey LM, et al. Among authors: toomes c. Br J Ophthalmol. 2006 Sep;90(9):1163-7. doi: 10.1136/bjo.2006.092114. Br J Ophthalmol. 2006. PMID: 16929062 Free PMC article.

8

The natural history of OPA1-related autosomal dominant optic atrophy.

Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA. Cohn AC, et al. Among authors: toomes c. Br J Ophthalmol. 2008 Oct;92(10):1333-6. doi: 10.1136/bjo.2007.134726. Epub 2008 Jul 24. Br J Ophthalmol. 2008. PMID: 18653586

9

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Parry DA, et al. Among authors: toomes c. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409519 Free PMC article.

10

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M. Khan K, et al. Among authors: toomes c. Invest Ophthalmol Vis Sci. 2011 Jun 16;52(7):4294-9. doi: 10.1167/iovs.10-6776. Invest Ophthalmol Vis Sci. 2011. PMID: 21474777 Free PMC article.

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