Thiselton DL - Search Results

1

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS. Hardcastle AJ, et al. Among authors: thiselton dl. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6. Invest Ophthalmol Vis Sci. 2000. PMID: 10892847

2

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: thiselton dl. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.

3

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. Among authors: thiselton dl. Invest Ophthalmol Vis Sci. 1997 Aug;38(9):1893-6. Invest Ophthalmol Vis Sci. 1997. PMID: 9286280

4

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: thiselton dl. Hum Genet. 1999 Jul-Aug;105(1-2):57-62. doi: 10.1007/s004399900110. Hum Genet. 1999. PMID: 10480356

5

Sequence variation within the RPGR gene: evidence for a founder complex allele.

Zito I, Morris A, Tyson P, Winship I, Sharp D, Gilbert D, Thiselton DL, Bhattacharya SS, Hardcastle AJ. Zito I, et al. Among authors: thiselton dl. Hum Mutat. 2000 Sep;16(3):273-4. doi: 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10980543

6

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. Thiselton DL, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24. Invest Ophthalmol Vis Sci. 2002. PMID: 12036970 Free article.

7

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Thiselton DL, McDowall J, Brandau O, Ramser J, d'Esposito F, Bhattacharya SS, Ross MT, Hardcastle AJ, Meindl A. Thiselton DL, et al. Genomics. 2002 Apr;79(4):560-72. doi: 10.1006/geno.2002.6733. Genomics. 2002. PMID: 11944989

8

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. Genomics. 1995 Jan 1;25(1):279-81. doi: 10.1016/0888-7543(95)80136-a. Genomics. 1995. PMID: 7774929

9

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

Thiselton DL, Hampson RM, Nayudu M, Van Maldergem L, Wolf ML, Saha BK, Bhattacharya SS, Hardcastle AJ. Thiselton DL, et al. Genome Res. 1996 Nov;6(11):1093-102. doi: 10.1101/gr.6.11.1093. Genome Res. 1996. PMID: 8938433 Free article.

10

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.

Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC. Flaxel CJ, et al. Among authors: thiselton dl. Br J Ophthalmol. 1999 Oct;83(10):1144-8. doi: 10.1136/bjo.83.10.1144. Br J Ophthalmol. 1999. PMID: 10502575 Free PMC article.

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