Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Neil D, Ebenezer"'
Autor:
Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45495 (2012)
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on ch
Externí odkaz:
https://doaj.org/article/3db6f0fbd97f483eadb7b26a06a19a39
Autor:
William J. Dupps, Walter Lisch, Gerard Tromp, Peter White, Chaesik Kim, Neil D. Ebenezer, Christopher J. Rapuano, Helena Kuivaniemi, Jayaprakash Karkera, Fung-Rong Hu, Jayne S. Weiss, James J. Reidy, Da Wen Lu, Michael L. Nickerson, R. Scott Winters, Howard S. Kruth, Sunil Mahurkar, John E. Sutphin
Publikováno v:
American Journal of Medical Genetics Part A. :952-964
Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Recently, six different mutations on the UBIAD1
Autor:
Gordon K. Klintworth, Brandy L. Bowling, Martin Filipec, Shomi S. Bhattacharya, Katerina Jirsova, Stephen J. Tuft, Petra Liskova, Neil D. Ebenezer, Alison J. Hardcastle
Publikováno v:
Ophthalmic Research. 40:105-108
Aims: To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individual
Autor:
Bruce Caterson, Robert D. Young, Briedgeen Kerr, Tomoya O. Akama, Neil D. Ebenezer, Michiko N. Fukuda, Petra Liskova, Andrew J. Quantock, Bruce D. Allan
Publikováno v:
Histochemistry and Cell Biology. 127:115-120
Keratan sulphate (KS) proteoglycans (PGs) are key molecules in the corneal stroma for tissue organisation and transparency. Macular corneal dystrophy (MCD) is a rare, autosomal recessive disease characterised by disturbances in KS expression. MCD is
Autor:
Naheed A. Rana, Neil D. Ebenezer, D. B. Whitehouse, Andrés Ruiz Linares, Andrew R. Webster, Alison J. Hardcastle, Sue Povey
Publikováno v:
Human Molecular Genetics. 13:3089-3102
The distribution of linkage disequilibrium (LD) in the human genome has important consequences for the design of experiments that infer susceptibility genes for complex disease using association studies. Recent studies have shown a non-random distrib
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
Autor:
D E Bamiou, Neil D. Ebenezer, Susan M. Downes, Andrew R. Webster, G E Holder, Alison J. Hardcastle, I Zito, Sharon Jenkins, Shomi S. Bhattacharya, A C Bird, Reshma Patel, Michael E. Cheetham
Publikováno v:
Scopus-Elsevier
Retinitis pigmentosa (RP) is a progressive retinal degeneration that affects about 1 in 4000 of the population.1 Approximately 15–30% of patients with RP have X linked retinitis pigmentosa (XLRP), which is the most severe form of RP consistently ma
Autor:
Shomi S. Bhattacharya, M. F. El-Ashry, Daniel F P Larkin, Ian A. Cree, Alison J. Hardcastle, Neil D. Ebenezer, M. M. Abd El-Aziz, B Clarke
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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4 páginas, 5 figuras.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.
[AIMS]: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). [
[AIMS]: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). [
Autor:
Stephanie Halford, Neil D. Ebenezer, David M. Hunt, Rhian Gwilliam, Pauline Spencer, Moin D. Mohamed, Suzanne L. Inglis
Publikováno v:
Experimental Eye Research. 75:619-623
Autor:
Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya
Publikováno v:
The American Journal of Human Genetics. 67:1129-1135
Autor:
Neil D. Ebenezer, Alison J. Hardcastle, Petra Liskova, Katerina Jirsova, Stephen J. Tuft, Ales Neuwirth, Martin Filipec, Pirro G. Hysi, Brotati Veraitch, Shomi S. Bhattacharya
Publikováno v:
British Journal of Ophthalmology. 92:265-267
Aims: To characterise the role of the carbohydrate sulfotransferase gene ( CHST6 ) in macular corneal dystrophy (MCD) in Czech patients. Methods: The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members fr