Thiselton DL - Search Results

1

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

2

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

3

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.

4

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.

5

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

6

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

7

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

8

Two dinucleotide repeat polymorphisms at the DXS571 locus.

Curtis AR, Roustan P, Kamakari S, Thiselton D, Lindsay S, Bhattacharya SS. Curtis AR, et al. Hum Mol Genet. 1992 Dec;1(9):776. doi: 10.1093/hmg/1.9.776. Hum Mol Genet. 1992. PMID: 1302618 No abstract available.

9

Dinucleotide repeat polymorphism at the DXS977 locus.

Yan D, Wong D, Zheng K, Thiselton D, Fujita R, Sieving PA, Bhattacharya SS, Yang-Feng TL, Richards JE, Swaroop A. Yan D, et al. Hum Mol Genet. 1994 Jun;3(6):1030. doi: 10.1093/hmg/3.6.1030. Hum Mol Genet. 1994. PMID: 7951222 No abstract available.

10

Dinucleotide repeat polymorphism at the DXS573 locus.

Roustan P, Curtis AR, Kamakari S, Thiselton D, Lindsay S, Bhattacharya SS. Roustan P, et al. Hum Mol Genet. 1993 Jan;2(1):92. doi: 10.1093/hmg/2.1.92-a. Hum Mol Genet. 1993. PMID: 8490635 No abstract available.

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