Tuft SJ - Search Results

1

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: tuft sj. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.

2

Acute corneal hydrops in keratoconus.

Tuft SJ, Gregory WM, Buckley RJ. Tuft SJ, et al. Ophthalmology. 1994 Oct;101(10):1738-44. doi: 10.1016/s0161-6420(94)31110-9. Ophthalmology. 1994. PMID: 7936572

3

Corneal infiltration after recurrent corneal epithelial erosion.

Ionides AC, Tuft SJ, Ferguson VM, Matheson MM, Hykin PG. Ionides AC, et al. Among authors: tuft sj. Br J Ophthalmol. 1997 Jul;81(7):537-40. doi: 10.1136/bjo.81.7.537. Br J Ophthalmol. 1997. PMID: 9290363 Free PMC article.

4

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: tuft sj. Am J Ophthalmol. 2005 Jan;139(1):192-3. doi: 10.1016/j.ajo.2004.07.001. Am J Ophthalmol. 2005. PMID: 15652851

5

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, Prescott Q, Martincova R, Pretorius M, Sinclair N, Boase DL, Jeffrey MJ, Deloukas P, Hardcastle AJ, Filipec M, Bhattacharya SS. Liskova P, et al. Among authors: tuft sj. Hum Mutat. 2007 Jun;28(6):638. doi: 10.1002/humu.9495. Hum Mutat. 2007. PMID: 17437275 Free PMC article.

6

Study of p.N247S KERA mutation in a British family with cornea plana.

Liskova P, Hysi PG, Williams D, Ainsworth JR, Shah S, de la Chapelle A, Tuft SJ, Bhattacharya SS. Liskova P, et al. Among authors: tuft sj. Mol Vis. 2007 Jul 27;13:1339-47. Mol Vis. 2007. PMID: 17679937

7

Molecular analysis of the VSX1 gene in familial keratoconus.

Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS. Liskova P, et al. Among authors: tuft sj. Mol Vis. 2007 Oct 4;13:1887-91. Mol Vis. 2007. PMID: 17960127 Free PMC article.

8

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: tuft sj. 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

9

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ. Liskova P, et al. Among authors: tuft sj. Br J Ophthalmol. 2007 Dec;91(12):1717-8. doi: 10.1136/bjo.2007.115154. Br J Ophthalmol. 2007. PMID: 18024822 Free PMC article. No abstract available.

10

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Liskova P, Klintworth GK, Bowling BL, Filipec M, Jirsova K, Tuft SJ, Bhattacharya SS, Hardcastle AJ, Ebenezer ND. Liskova P, et al. Among authors: tuft sj. Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6. Ophthalmic Res. 2008. PMID: 18259096

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