Hardcastle AJ - Search Results

1

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.

Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer ND, Hysi PG, Hardcastle AJ, Tuft SJ, Bhattacharya SS. Liskova P, et al. Among authors: hardcastle aj. Br J Ophthalmol. 2008 Feb;92(2):265-7. doi: 10.1136/bjo.2007.125252. Epub 2007 Oct 25. Br J Ophthalmol. 2008. PMID: 17962390

2

Better fingerprinting with PCR.

Bellamy R, Inglehearn C, Lester D, Hardcastle A, Bhattacharya S. Bellamy R, et al. Trends Genet. 1990 Feb;6(2):32. doi: 10.1016/0168-9525(90)90054-a. Trends Genet. 1990. PMID: 2336717 No abstract available.

3

FISH mapping of 22 novel X chromosome cosmids and the isolation of a novel microsatellite on proximal Xp.

Kamakari S, Thiselton D, Lindsay S, Hardcastle A, Bhattacharya S. Kamakari S, et al. Cytogenet Cell Genet. 1995;71(2):151-4. doi: 10.1159/000134096. Cytogenet Cell Genet. 1995. PMID: 7656586

4

Genetic and physical mapping of five novel microsatellite markers on human Xp21.1-p11.22.

Thiselton DL, Lindsay S, Kamakari S, Hardcastle AJ, Roustan P, Bhattacharya SS. Thiselton DL, et al. Among authors: hardcastle aj. Genomics. 1995 Jan 1;25(1):279-81. doi: 10.1016/0888-7543(95)80136-a. Genomics. 1995. PMID: 7774929

5

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

al-Maghtheh M, Kim RY, Hardcastle A, Inglehearn C, Bhattacharya SS. al-Maghtheh M, et al. Hum Mol Genet. 1994 Jan;3(1):205-6. doi: 10.1093/hmg/3.1.205. Hum Mol Genet. 1994. PMID: 8162031 No abstract available.

6

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S. al-Maghtheh M, et al. Hum Mutat. 1993;2(4):249-55. doi: 10.1002/humu.1380020403. Hum Mutat. 1993. PMID: 8401533 Review.

7

Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.

Hardcastle AJ, Thiselton DL, Nayudu M, Hampson RM, Bhattacharya SS. Hardcastle AJ, et al. Invest Ophthalmol Vis Sci. 1997 Aug;38(9):1893-6. Invest Ophthalmol Vis Sci. 1997. PMID: 9286280

8

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS. Hardcastle AJ, et al. Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5. Invest Ophthalmol Vis Sci. 1997. PMID: 9418727

9

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. Zito I, et al. Among authors: hardcastle aj. Hum Genet. 1999 Jul-Aug;105(1-2):57-62. doi: 10.1007/s004399900110. Hum Genet. 1999. PMID: 10480356

10

Novel mutations of the RPGR gene in RP3 families.

Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. Zito I, et al. Among authors: hardcastle aj. Hum Mutat. 2000 Apr;15(4):386. doi: 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10737996

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