Toomes C - Search Results

1

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Mc Clinton B, Corradi Z, McKibbin M, Panneman DM, Roosing S, Boonen EGM, Ali M, Watson CM, Steel DH, Cremers FPM, Inglehearn CF, Hitti-Malin RJ, Toomes C. Mc Clinton B, et al. Among authors: toomes c. Genes (Basel). 2023 Jan 11;14(1):191. doi: 10.3390/genes14010191. Genes (Basel). 2023. PMID: 36672932 Free PMC article.

2

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

Toomes C, Dixon MJ. Toomes C, et al. Genomics. 1998 Nov 1;53(3):308-14. doi: 10.1006/geno.1998.5512. Genomics. 1998. PMID: 9799597

3

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN, Malecaze F, Calvas P, Rosenberg T, Guggenheim JA, Young TL. Mackey DA, et al. Among authors: toomes c. Mol Vis. 2011;17:2118-28. Epub 2011 Aug 10. Mol Vis. 2011. PMID: 21850187 Free PMC article.

4

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA. Edwards TL, et al. Among authors: toomes c. Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19. Clin Exp Ophthalmol. 2012. PMID: 22574936

5

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

Pai RG, Yoganathan AP, Toomes C, Eberhardt C, Shah PM. Pai RG, et al. Among authors: toomes c. J Heart Valve Dis. 1998 Jul;7(4):438-44. J Heart Valve Dis. 1998. PMID: 9697068

6

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rüdiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N. Hewitt C, et al. Among authors: toomes c. Hum Mutat. 2004 Mar;23(3):222-8. doi: 10.1002/humu.10314. Hum Mutat. 2004. PMID: 14974080

7

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

Lawson CT, Toomes C, Fryer A, Carette MJ, Taylor GM, Fukushima Y, Dixon MJ. Lawson CT, et al. Among authors: toomes c. Hum Mol Genet. 1995 May;4(5):963-7. doi: 10.1093/hmg/4.5.963. Hum Mol Genet. 1995. PMID: 7633459

8

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.

9

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.

Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P. Hargrave M, et al. Among authors: toomes c. Hum Genet. 2000 Apr;106(4):432-9. doi: 10.1007/s004390000266. Hum Genet. 2000. PMID: 10830911

10

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Among authors: toomes c. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

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