Fox's in development and diseaseOrdan J Lehmann
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK
Trends Genet 19:339-44. 2003
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Investigation of beta defensin gene expression in the ocular anterior segment by semiquantitative RT-PCRO J Lehmann
Moorfields Eye Hospital, London, UK
Br J Ophthalmol 84:523-6. 2000
..To determine if beta defensins are expressed in the anterior segment of the eye and to determine the temporal pattern of expression using a real time semiquantitative reverse transcription polymerase chain reaction (RT-PCR)...
- Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function
Ordan J Lehmann
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 44:2627-33. 2003
..This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes...
- Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions
Ordan J Lehmann
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 43:1843-9. 2002
..However, FOXC1 mutations have not been found in all similarly affected pedigrees mapping to this interval. This study was undertaken to investigate the potential role of 6p25 rearrangements in causing such phenotypes...
- Risk factors for development of post-trabeculectomy endophthalmitis
O J Lehmann
Glaucoma Service, Moorfields Eye Hospital, London, UK
Br J Ophthalmol 84:1349-53. 2000
..In view of these structural changes, which have been suggested to predispose to bleb infection, the relative importance of potential risk factors in the development of post-trabeculectomy endophthalmitis was investigated...
- Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
O J Lehmann
Department of Molecular Genetics, Institute of Ophthalmology, London, England EC1V 9EL
Am J Hum Genet 67:1129-35. 2000
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- Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing
T Aung
Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
J Med Genet 40:e101. 2003
- Identification of the gene for Nance-Horan syndrome (NHS)
S P Brooks
Division of Molecular Genetics, Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, UK
J Med Genet 41:768-71. 2004
..The disease intervals for Nance-Horan syndrome (NHS [MIM 302350]) and X linked congenital cataract (CXN) overlap on Xp22...
- A novel keratocan mutation causing autosomal recessive cornea plana
O J Lehmann
Department of Molecular Genetics, Institute of Ophthalmology, Bath Street, London, UK EC1V 9EL
Invest Ophthalmol Vis Sci 42:3118-22. 2001
..A consanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and direct sequencing...
- The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms
T Aung
Moorfields Eye Hospital, London, UK
Br J Ophthalmol 87:149-52. 2003
..The aim of this study was to determine whether OPA1 polymorphisms affect the phenotype of NTG patients...
- Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma
Tin Aung
Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
Hum Genet 110:513-4. 2002
..5 (95% CI 0.5-4.9)]. These results indicate that unlike NTG, the OPA1 genotype IVS8+4 C/T,+32T/C is not significantly associated with high-tension primary open angle glaucoma, and suggest genetic heterogeneity between the conditions...
- Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene
Tin Aung
Moorfields Eye Hospital, London, United Kingdom
Invest Ophthalmol Vis Sci 46:2816-22. 2005
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- Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype
Mika Asai-Coakwell
Department of Ophthalmology, University of Alberta, 829 Medical Sciences Building, Edmonton T6G 2H7, Alberta, Canada
Invest Ophthalmol Vis Sci 47:4905-9. 2006
..In view of PITX2's contribution to corneal development and the altered CCT in some FOXC1-related cases, this study was undertaken to investigate whether a related phenotype is associated with the PITX2/Pitx2 mutation...
- Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
Kenneth Maclean
Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, New South Wales, Australia
Am J Med Genet A 132:381-5. 2005
..CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal...
- A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene
Tin Aung
Singapore National Eye Centre, Singapore
Hum Genet 110:52-6. 2002
..04, P=0.00001 after correcting for testing four genotypes). These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease...
- A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation
Bhaskar Chanda
Departments of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
Hum Mol Genet 17:3446-58. 2008
..These findings highlight the benefits of undertaking the extensive studies necessary to characterize structural variants at the base pair level...
