Shiels A - Search Results

1

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. Mackay DS, et al. Among authors: shiels a. Am J Hum Genet. 2002 Nov;71(5):1216-21. doi: 10.1086/344212. Epub 2002 Oct 1. Am J Hum Genet. 2002. PMID: 12360425 Free PMC article.

2

A locus for autosomal dominant anterior polar cataract on chromosome 17p.

Berry V, Ionides AC, Moore AT, Plant C, Bhattacharya SS, Shiels A. Berry V, et al. Among authors: shiels a. Hum Mol Genet. 1996 Mar;5(3):415-9. doi: 10.1093/hmg/5.3.415. Hum Mol Genet. 1996. PMID: 8852669

3

A locus for autosomal dominant posterior polar cataract on chromosome 1p.

Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. Ionides AC, et al. Among authors: shiels a. Hum Mol Genet. 1997 Jan;6(1):47-51. doi: 10.1093/hmg/6.1.47. Hum Mol Genet. 1997. PMID: 9002669

4

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. Among authors: shiels a. Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468. Am J Hum Genet. 1997. PMID: 9199569 Free PMC article.

5

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.

6

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. Among authors: shiels a. Eye (Lond). 1998;12 ( Pt 2):224-6. doi: 10.1038/eye.1998.53. Eye (Lond). 1998. PMID: 9683943

7

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. Among authors: shiels a. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.

8

Molecular mechanism underlying a Cx50-linked congenital cataract.

Pal JD, Berthoud VM, Beyer EC, Mackay D, Shiels A, Ebihara L. Pal JD, et al. Among authors: shiels a. Am J Physiol. 1999 Jun;276(6):C1443-6. doi: 10.1152/ajpcell.1999.276.6.C1443. Am J Physiol. 1999. PMID: 10362609

Mutations in gap junctional channels have been linked to certain forms of inherited congenital cataract (D. Mackay, A. Ionides, V. Berry, A. Moore, S. Bhattacharya, and A. Shiels. Am. J. Hum. Genet. 60: 1474-1478, 1997; A. Shiels, D. Mack …

Mutations in gap junctional channels have been linked to certain forms of inherited congenital cataract (D. Mackay, A. Ionides, V. Be …

9

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. Among authors: shiels a. 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.

10

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.

Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, Mehdi SQ, Newbold RJ, Ionides A, Shiels A, Moore T, Bhattacharya SS. Berry V, et al. Among authors: shiels a. Hum Genet. 1999 Jul-Aug;105(1-2):168-70. doi: 10.1007/s004399900094. Hum Genet. 1999. PMID: 10480374

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