Thiselton DL - Search Results

1

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.

2

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Gränse L, Bergstrand I, Thiselton D, Ponjavic V, Heijl A, Votruba M, Andréasson S. Gränse L, et al. Ophthalmic Genet. 2003 Dec;24(4):233-45. doi: 10.1076/opge.24.4.233.17230. Ophthalmic Genet. 2003. PMID: 14566653

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

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Among authors: thiselton dl. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

5

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M. Thiselton DL, et al. Hum Genet. 2001 Nov;109(5):498-502. doi: 10.1007/s004390100600. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735024

6

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Votruba M, Thiselton D, Bhattacharya SS. Votruba M, et al. Br J Ophthalmol. 2003 Jan;87(1):48-53. doi: 10.1136/bjo.87.1.48. Br J Ophthalmol. 2003. PMID: 12488262 Free PMC article.

7

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ. Thiselton DL, et al. Hum Mutat. 2000 Jun;15(6):580. doi: 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3. Hum Mutat. 2000. PMID: 10862093

8

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

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

10

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, Alexander C, Votruba M, Brice G, Child AH, Francis PJ, Hitchings RA, Lehmann OJ, Bhattacharya SS. Aung T, et al. Among authors: thiselton dl. Hum Genet. 2002 Jan;110(1):52-6. doi: 10.1007/s00439-001-0645-7. Epub 2001 Nov 23. Hum Genet. 2002. PMID: 11810296

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