Ebenezer ND - Search Results

1

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.

Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VH, Tuft SJ, Viswanathan D, El-Ashry MF, Liskova P, Tan DT, Bhattacharya SS, Kumaramanickavel G, Vithana EN. Ramprasad VL, et al. Among authors: ebenezer nd. Hum Mutat. 2007 May;28(5):522-3. doi: 10.1002/humu.9487. Hum Mutat. 2007. PMID: 17397048

2

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: ebenezer nd. Hum Mutat. 2007 Jun;28(6):638. doi: 10.1002/humu.9495. Hum Mutat. 2007. PMID: 17437275 Free PMC article.

3

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: ebenezer nd. Am J Ophthalmol. 2005 Jan;139(1):192-3. doi: 10.1016/j.ajo.2004.07.001. Am J Ophthalmol. 2005. PMID: 15652851

4

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T. Vithana EN, et al. Among authors: ebenezer nd. Nat Genet. 2006 Jul;38(7):755-7. doi: 10.1038/ng1824. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767101

5

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS. Toma NM, et al. Among authors: ebenezer nd. Hum Mol Genet. 1995 Dec;4(12):2395-8. doi: 10.1093/hmg/4.12.2395. Hum Mol Genet. 1995. PMID: 8634716

6

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

El-Ashry MF, Abd El-Aziz MM, Hardcastle AJ, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: ebenezer nd. Ophthalmic Res. 2005 Nov-Dec;37(6):310-7. doi: 10.1159/000087791. Epub 2005 Aug 23. Ophthalmic Res. 2005. PMID: 16118514

7

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: ebenezer nd. Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6. Ophthalmic Res. 2008. PMID: 18259096

8

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Among authors: ebenezer nd. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749309 Free PMC article.

9

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: ebenezer nd. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82. Invest Ophthalmol Vis Sci. 2002. PMID: 11818380

10

A novel keratocan mutation causing autosomal recessive cornea plana.

Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS. Lehmann OJ, et al. Among authors: ebenezer nd. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22. Invest Ophthalmol Vis Sci. 2001. PMID: 11726611

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