Moore AT - Search Results

1

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M. Berry V, et al. Among authors: moore at. Ophthalmic Genet. 2018 Apr;39(2):236-241. doi: 10.1080/13816810.2017.1381977. Epub 2017 Oct 17. Ophthalmic Genet. 2018. PMID: 29039721

2

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A. Mackay D, et al. Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468. Am J Hum Genet. 1997. PMID: 9199569 Free PMC article.

3

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. Shiels A, et al. Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762. Am J Hum Genet. 1998. PMID: 9497259 Free PMC article.

4

Anterior polar cataract: clinical spectrum and genetic linkage in a single family.

Ionides A, Berry V, Mackay D, Shiels A, Bhattacharya S, Moore A. Ionides A, et al. Eye (Lond). 1998;12 ( Pt 2):224-6. doi: 10.1038/eye.1998.53. Eye (Lond). 1998. PMID: 9683943

5

Connexin46 mutations in autosomal dominant congenital cataract.

Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.

6

Clinical and genetic heterogeneity in autosomal dominant cataract.

Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Ionides A, et al. Br J Ophthalmol. 1999 Jul;83(7):802-8. doi: 10.1136/bjo.83.7.802. Br J Ophthalmol. 1999. PMID: 10381667 Free PMC article.

7

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Berry V, et al. Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538. Nat Genet. 2000. PMID: 10802646

8

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Francis P, et al. Hum Mol Genet. 2000 Sep 22;9(15):2329-34. doi: 10.1093/oxfordjournals.hmg.a018925. Hum Mol Genet. 2000. PMID: 11001937

9

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Francis P, Berry V, Bhattacharya S, Moore A. Francis P, et al. Br J Ophthalmol. 2000 Dec;84(12):1376-9. doi: 10.1136/bjo.84.12.1376. Br J Ophthalmol. 2000. PMID: 11090476 Free PMC article.

10

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA. Berry V, et al. Am J Hum Genet. 2001 Nov;69(5):1141-5. doi: 10.1086/324158. Epub 2001 Sep 27. Am J Hum Genet. 2001. PMID: 11577372 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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

502 results

Search Page

Filters