Mackay D - Search Results

1

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: mackay d. Eye (Lond). 1998;12 ( Pt 2):224-6. doi: 10.1038/eye.1998.53. Eye (Lond). 1998. PMID: 9683943

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. Among authors: mackay d. 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

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.

5

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: mackay d. 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.

6

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: mackay d. Hum Genet. 1999 Jul-Aug;105(1-2):168-70. doi: 10.1007/s004399900094. Hum Genet. 1999. PMID: 10480374

7

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: mackay ds. Hum Mol Genet. 1997 Jan;6(1):47-51. doi: 10.1093/hmg/6.1.47. Hum Mol Genet. 1997. PMID: 9002669

8

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. 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.

9

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

Mackay DS, Andley UP, Shiels A. Mackay DS, et al. Eur J Hum Genet. 2003 Oct;11(10):784-93. doi: 10.1038/sj.ejhg.5201046. Eur J Hum Genet. 2003. PMID: 14512969

10

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

Mackay DS, Andley UP, Shiels A. Mackay DS, et al. Mol Vis. 2004 Mar 17;10:155-62. Mol Vis. 2004. PMID: 15041957 Free article.

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