Bonshek RE - Search Results

1

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA. Stewart H, et al. Among authors: bonshek re. Ophthalmology. 1999 May;106(5):964-70. doi: 10.1016/S0161-6420(99)00539-4. Ophthalmology. 1999. PMID: 10328397

2

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC. Stewart HS, et al. Br J Ophthalmol. 2000 Apr;84(4):390-4. doi: 10.1136/bjo.84.4.390. Br J Ophthalmol. 2000. PMID: 10729296 Free PMC article.

3

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G. Stewart HS, et al. Hum Mutat. 1999;14(2):126-32. doi: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. Hum Mutat. 1999. PMID: 10425035

4

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

Ridgway AE, Akhtar S, Munier FL, Schorderet DF, Stewart H, Perveen R, Bonshek RE, Odenthal MT, Dixon M, Barraquer R, Escoto R, Black GC. Ridgway AE, et al. Among authors: bonshek re. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3286-92. Invest Ophthalmol Vis Sci. 2000. PMID: 11006215

5

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Black GC, et al. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

6

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488

7

Developmental changes in patterns of expression of tenascin-C variants in the human cornea.

Maseruka H, Ridgway A, Tullo A, Bonshek R. Maseruka H, et al. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4101-7. Invest Ophthalmol Vis Sci. 2000. PMID: 11095602

8

Cloudy corneas as an initial presentation of multiple myeloma.

Sharma P, Madi HA, Bonshek R, Morgan SJ. Sharma P, et al. Clin Ophthalmol. 2014 Apr 28;8:813-7. doi: 10.2147/OPTH.S49283. eCollection 2014. Clin Ophthalmol. 2014. PMID: 24812487 Free PMC article.

9

Lectin binding sites in normal, scarred, and lattice dystrophy corneas.

Bishop PN, Bonshek RE, Jones CJ, Ridgway AE, Stoddart RW. Bishop PN, et al. Among authors: bonshek re. Br J Ophthalmol. 1991 Jan;75(1):22-7. doi: 10.1136/bjo.75.1.22. Br J Ophthalmol. 1991. PMID: 1703789 Free PMC article.

10

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Burkitt Wright EMM, et al. Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Am J Hum Genet. 2011. PMID: 21664999 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

82 results

Search Page