Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G.

Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6.

PMID:
14638698
2.
3.

A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.

Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T.

Invest Ophthalmol Vis Sci. 2002 Oct;43(10):3160-4.

PMID:
12356819
4.

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Mar;41(3):629-33.

PMID:
10711674
5.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
6.

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H.

Genet Med. 2005 Jul-Aug;7(6):397-405.

PMID:
16024971
7.

A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.

Khaliq S, Hameed A, Ismail M, Anwar K, Mehdi SQ.

Invest Ophthalmol Vis Sci. 2002 Jul;43(7):2083-7.

PMID:
12091400
8.

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.

Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K.

Am J Hum Genet. 2001 Feb;68(2):509-14. Epub 2000 Dec 21.

9.

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.

Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J, Walter N, Moreira AT, Clancy K, Spence MA.

Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3278-85.

PMID:
11006214
10.

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

Berry V, Ionides AC, Moore AT, Plant C, Bhattacharya SS, Shiels A.

Hum Mol Genet. 1996 Mar;5(3):415-9.

11.

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.

Am J Ophthalmol. 2000 Feb;129(2):159-65.

PMID:
10682967
12.

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.

Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.

Mol Vis. 2007 Aug 1;13:1357-62.

PMID:
17768382
13.

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

Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A.

Hum Mol Genet. 1997 Jan;6(1):47-51.

14.

A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.

Bateman JB, Richter L, Flodman P, Burch D, Brown S, Penrose P, Paul O, Geyer DD, Brooks DG, Spence MA.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3441-9. Erratum in: Invest Ophthalmol Vis Sci. 2006 Sep;47(9):4179-80.

PMID:
16877414
15.

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

Pras E, Mahler O, Kumar V, Frydman M, Gefen N, Pras E, Hejtmancik JF.

J Med Genet. 2006 Oct;43(10):e50.

16.

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

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A.

Am J Hum Genet. 1997 Jun;60(6):1474-8.

17.

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.

McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.

Br J Ophthalmol. 2005 Jul;89(7):831-4.

18.

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

Am J Med Genet A. 2006 Mar 15;140(6):558-66.

PMID:
16470690
19.

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

Sabir N, Riazuddin SA, Kaul H, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Dec 30;16:2911-5.

20.

An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23.

Li N, Yang Y, Bu J, Zhao C, Lu S, Zhao J, Yan L, Cui L, Zheng R, Li J, Tang J, Zhao K.

Mol Vis. 2006 Dec 5;12:1506-10.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk