Publications by authors named "Neil D Ebenezer"

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Alice E Davidson, Petra Liskova, Cerys J Evans, Lubica Dudakova, Lenka Nosková, Neil D Ebenezer

Am J Hum Genet· January 2016

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High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Neil D Ebenezer

PLoS One· April 2013

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A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Jessica C Gardner, Tom R Webb, Naheed Kanuga, Anthony G Robson, Graham E Holder, Neil D Ebenezer

Adv Exp Med Biol· April 2012

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Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.
Petra Liskova, Pirro G Hysi, Naushin Waseem, Neil D Ebenezer, Shomi S Bhattacharya

Arch Ophthalmol· September 2010

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X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Jessica C Gardner, Tom R Webb, Naheed Kanuga, Anthony G Robson, Graham E Holder, Neil D Ebenezer

Am J Hum Genet· July 2010

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Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
Petra Liskova, Gordon K Klintworth, Brandy L Bowling, Martin Filipec, Katerina Jirsova, Neil D Ebenezer

Ophthalmic Res· March 2008

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Molecular analysis of the VSX1 gene in familial keratoconus.
Petra Liskova, Neil D Ebenezer, Pirro G Hysi, Rhian Gwilliam, Mohamed F El-Ashry

Mol Vis· October 2007

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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Petra Liskova, Stephen J Tuft, Rhian Gwilliam, Neil D Ebenezer, Katerina Jirsova

Hum Mutat· June 2007

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Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Vedam L Ramprasad, Neil D Ebenezer, Tin Aung, Rama Rajagopal, Victor H K Yong

Hum Mutat· May 2007

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Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients.
Katerina Jirsova, Stanislava Merjava, Radka Martincova, Rhian Gwilliam, Neil D Ebenezer

Exp Eye Res· April 2007

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Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies.
Robert D Young, Tomoya O Akama, Petra Liskova, Neil D Ebenezer, Bruce Allan

Histochem Cell Biol· January 2007

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Eranga N Vithana, Patricio Morgan, Periasamy Sundaresan, Neil D Ebenezer, Donald T H Tan

Nat Genet· July 2006

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A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
Mohamed Farouk El-Ashry, Mai Mohamed Abd El-Aziz, Alison J Hardcastle, Shomi S Bhattacharya, Neil D Ebenezer

Ophthalmic Res· December 2005

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Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
Rhian Gwilliam, Petra Liskova, Martin Filipec, Stanislav Kmoch, Katerina Jirsova, Neil D Ebenezer

Invest Ophthalmol Vis Sci· December 2005

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Clinical and molecular characterization of a family with autosomal recessive cornea plana.
Neil D Ebenezer, Chetankumar B Patel, Seenu M Hariprasad, Li L Chen, Reshma J Patel

Arch Ophthalmol· September 2005

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Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Neil D Ebenezer, Michel Michaelides, Sharon A Jenkins, Isabelle Audo, Andrew R Webster

Invest Ophthalmol Vis Sci· June 2005

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Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
Mohamed F El-Ashry, Mai M Abd El-Aziz, Osama Shalaby, Simon Wilkins, Subathra Poopalasundaram, Neil D Ebenezer

Am J Ophthalmol· January 2005

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Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
Naheed A Rana, Neil D Ebenezer, Andrew R Webster, Andres R Linares, David B Whitehouse

Hum Mol Genet· December 2004

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Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.
Stephanie Halford, Suzanne Inglis, Rhian Gwilliam, Pauline Spencer, Moin Mohamed, Neil D Ebenezer

Exp Eye Res· November 2002

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Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
Ordan J Lehmann, Neil D Ebenezer, Rosemary Ekong, Louise Ocaka, Andrew J Mungall

Invest Ophthalmol Vis Sci· June 2002

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Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
Tin Aung, Louise Ocaka, Neil D Ebenezer, Alex G Morris, Glen Brice

Hum Genet· May 2002

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Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
Mohamed F El-Ashry, Mai M Abd El-Aziz, Simon Wilkins, Michael E Cheetham, Susan E Wilkie, Neil D Ebenezer

Invest Ophthalmol Vis Sci· February 2002

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A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Tin Aung, Louise Ocaka, Neil D Ebenezer, Alex G Morris, Michael Krawczak

Hum Genet· January 2002

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