Search Results - "Ebenezer, Neil D."

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) by Vithana, Eranga N, Morgan, Patricio, Sundaresan, Periasamy, Ebenezer, Neil D, Tan, Donald T H, Mohamed, Moin D, Anand, Seema, Khine, Khin O, Venkataraman, Divya, Yong, Victor H K, Salto-Tellez, Manuel, Venkatraman, Anandalakshmi, Guo, Ke, Hemadevi, Boomiraj, Srinivasan, Muthiah, Prajna, Venkatesh, Khine, Myint, Casey, Joseph R, Inglehearn, Chris F, Aung, Tin

“…Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We…”
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High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation by Liskova, Petra, Gwilliam, Rhian, Filipec, Martin, Jirsova, Katerina, Reinstein Merjava, Stanislava, Deloukas, Panos, Webb, Tom R, Bhattacharya, Shomi S, Ebenezer, Neil D, Morris, Alex G, Hardcastle, Alison J

“…Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113…”
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Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients by Jirsova, Katerina, Merjava, Stanislava, Martincova, Radka, Gwilliam, Rhian, Ebenezer, Neil D., Liskova, Petra, Filipec, Martin

“…Posterior polymorphous corneal dystrophy (PPCD) is a hereditary bilateral disorder affecting Descemet's membrane and the endothelium. The aim of the present…”
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Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma by TIN AUNG, OCAKA, Louise, EBENEZER, Neil D, MORRIS, Alex G, BRICE, Glen, CHILD, Anne H, HITCHINGS, Roger A, LEHMANN, Ordan J, BHATTACHARYA, Shomi S

“…OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for glaucoma, as there are similarities in the clinical…”
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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy by Liskova, Petra, Tuft, Stephen J., Gwilliam, Rhian, Ebenezer, Neil D., Jirsova, Katerina, Prescott, Quincy, Martincova, Radka, Pretorius, Marike, Sinclair, Neil, Boase, David L., Jeffrey, Margaret J., Deloukas, Panos, Hardcastle, Alison J., Filipec, Martin, Bhattacharya, Shomi S.

“…We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a…”
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A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 ( RP11) by Vithana, Eranga N., Abu-Safieh, Leen, Allen, Maxine J., Carey, Alisoun, Papaioannou, Myrto, Chakarova, Christina, Al-Maghtheh, Mai, Ebenezer, Neil D., Willis, Catherine, Moore, Anthony T., Bird, Alan C., Hunt, David M., Bhattacharya, Shomi S.

“…We report mutations in a gene ( PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis…”
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Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online by Ramprasad, Vedam L, Ebenezer, Neil D, Aung, Tin, Rajagopal, Rama, Yong, Victor H K, Tuft, Stephen J, Viswanathan, Deepa, El-Ashry, Mohamed F, Liskova, Petra, Tan, Donald T H, Bhattacharya, Shomi S, Kumaramanickavel, Govindasamy, Vithana, Eranga N

“…Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter,…”
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Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families by Ebenezer, Neil D, Michaelides, Michel, Jenkins, Sharon A, Audo, Isabelle, Webster, Andrew R, Cheetham, Michael E, Stockman, Andrew, Maher, Eamonn R, Ainsworth, John R, Yates, John R, Bradshaw, Keith, Holder, Graham E, Moore, Anthony T, Hardcastle, Alison J

“…To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone…”
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Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes the VSX1 Gene by Gwilliam, Rhian, Liskova, Petra, Filipec, Martin, Kmoch, Stanislav, Jirsova, Katerina, Huckle, Elizabeth J, Stables, Catherine L, Bhattacharya, Shomi S, Hardcastle, Alison J, Deloukas, Panos, Ebenezer, Neil D

“…Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet's membrane. In the Czech…”
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Molecular analysis of the VSX1 gene in familial keratoconus by Liskova, Petra, Ebenezer, Neil D, Hysi, Pirro G, Gwilliam, Rhian, El-Ashry, Mohamed F, Moodaley, Lalitha C, Hau, Scott, Twa, Michael, Tuft, Stephen J, Bhatacharya, Shomi S

“…To evaluate the role of the visual system homeobox gene 1 (VSX1) in the pathogenesis of familial keratoconus. Families with two or more individuals with…”
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Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma by Lehmann, Ordan J., Ebenezer, Neil D., Jordan, Tim, Fox, Margaret, Ocaka, Louise, Payne, Annette, Leroy, Bart P., Clark, Brian J., Hitchings, Roger A., Povey, Sue, Khaw, Peng T., Bhattacharya, Shomi S.

“…The forkhead transcription factor gene FOXC1 (formerly FKHL7) is responsible for a number of glaucoma phenotypes in families in which the disease maps to 6p25,…”
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A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene by AUNG, Tin, OCAKA, Louise, FRANCIS, Peter J, HITCHINGS, Roger A, LEHMANN, Ordan J, BHATTACHARYA, Shomi S, EBENEZER, Neil D, MORRIS, Alex G, KRAWCZAK, Michael, THISELTON, Dawn L, ALEXANDER, Christiane, VOTRUBA, Marcela, BRICE, Glen, CHILD, Anne H

“…Normal tension glaucoma (NTG) is a major form of glaucoma, associated with intraocular pressures that are within the statistically normal range of the…”
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X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins by Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.

“…X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogeneous group of progressive disorders that solely or primarily affect cone…”
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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 by Young, Robert D, Akama, Tomoya O, Liskova, Petra, Ebenezer, Neil D, Allan, Bruce, Kerr, Briedgeen, Caterson, Bruce, Fukuda, Michiko N, Quantock, Andrew J

“…Keratan sulphate (KS) proteoglycans (PGs) are key molecules in the corneal stroma for tissue organisation and transparency. Macular corneal dystrophy (MCD) is…”
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Ocular Developmental Abnormalities and Glaucoma Associated with Interstitial 6p25 Duplications and Deletions by Lehmann, Ordan J, Ebenezer, Neil D, Ekong, Rosemary, Ocaka, Louise, Mungall, Andrew J, Fraser, Scott, McGill, James I, Hitchings, Roger A, Khaw, Peng T, Sowden, Jane C, Povey, Sue, Walter, Michael A, Bhattacharya, Shomi S, Jordan, Tim

“…Mutations in the forkhead transcription factor gene FOXC1 on 6p25 cause a range of ocular developmental abnormalities, with associated glaucoma. However, FOXC1…”
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Identification of Novel Mutations in the Carbohydrate Sulfotransferase Gene (CHST6) Causing Macular Corneal Dystrophy by El-Ashry, Mohamed F, El-Aziz, Mai M. Abd, Wilkins, Simon, Cheetham, Michael E, Wilkie, Susan E, Hardcastle, Alison J, Halford, Stephanie, Bayoumi, Ahmed Y, Ficker, Linda A, Tuft, Stephen, Bhattacharya, Shomi S, Ebenezer, Neil D

“…Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet's membrane,…”
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Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31 by Rana, Naheed A., Ebenezer, Neil D., Webster, Andrew R., Linares, Andres R., Whitehouse, David B., Povey, Sue, Hardcastle, Alison J.

“…The distribution of linkage disequilibrium (LD) in the human genome has important consequences for the design of experiments that infer susceptibility genes…”
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A Novel Locus for Leber Congenital Amaurosis (LCA4) with Anterior Keratoconus Mapping to Chromosome 17p13 by Hameed, Abdul, Khaliq, Shagufta, Ismail, Muhammed, Anwar, Khalid, Ebenezer, Neil D, Jordan, Tim, Mehdi, S. Qasim, Payne, Annette M, Bhattacharya, Shomi S

“…A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All…”
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Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers by Liskova, Petra, Hysi, Pirro G, Waseem, Naushin, Ebenezer, Neil D, Bhattacharya, Shomi S, Tuft, Stephen J

“…To search for genetic factors that could increase susceptibility to keratoconus. A single-nucleotide polymorphism chip method was used to generate whole-genome…”
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Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families by Liskova, Petra, Klintworth, Gordon K, Bowling, Brandy L, Filipec, Martin, Jirsova, Katerina, Tuft, Stephen J, Bhattacharya, Shomi S, Hardcastle, Alison J, Ebenezer, Neil D

“…To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. The…”
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