N. Ebenezer

发表

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

S. Bhattacharya, T. Aung, R. Hitchings, 2002, Human Genetics.

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

J. Reidy, H. Kuivaniemi, G. Tromp, 2008, American Journal of Medical Genetics. Part A.

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

J. Reidy, H. Kuivaniemi, G. Tromp, 2008, American journal of medical genetics. Part A.

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

H. Kuivaniemi, G. Tromp, M. Nickerson, 2007, Investigative ophthalmology & visual science.

Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

P. Deloukas, R. Gwilliam, E. Huckle, 2005, Investigative ophthalmology & visual science.

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

M. Salto‐Tellez, T. Aung, M. Srinivasan, 2006, Nature Genetics.

Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients.

R. Gwilliam, K. Jirsova, P. Lišková, 2007, Experimental eye research.

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

R. Ekong, A. Mungall, S. Povey, 2002, Investigative ophthalmology & visual science.

Identification of the gene for Nance-Horan syndrome (NHS)

A. Moore, O. Lehmann, S. Brooks, 2004, Journal of Medical Genetics.

A novel keratocan mutation causing autosomal recessive cornea plana.

P. Khaw, S. Bhattacharya, O. Lehmann, 2001, Investigative ophthalmology & visual science.

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2)

S. Tuft, S. Bhattacharya, T. Aung, 2007, Human mutation.

Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

S. Tuft, A. Hardcastle, G. Larkin, 2013, Eye.

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

C. Inglehearn, L. Ficker, S. Bhattacharya, 1995, Human molecular genetics.

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

L. Ficker, A. Hardcastle, S. Bhattacharya, 2004, Eye.

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

A. Wagner, S. Bhattacharya, I. Cree, 2003, Journal of medical genetics.

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

S. Tuft, J. Daniels, V. Plagnol, 2015, American journal of human genetics.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

P. Deloukas, R. Gwilliam, S. Tuft, 2007, Human mutation.

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

S. Tuft, S. Halford, S. Bhattacharya, 2002, Investigative ophthalmology & visual science.

Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies

A. Quantock, R. Young, B. Caterson, 2006, Histochemistry and Cell Biology.

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

S. Tuft, S. Bhattacharya, M. Cheetham, 2005, American journal of ophthalmology.

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

P. Deloukas, R. Gwilliam, S. Bhattacharya, 2012, PloS one.

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

S. Khaliq, S. Bhattacharya, A. Hameed, 1999, Investigative ophthalmology & visual science.

A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population

S. Bhattacharya, A. Hardcastle, N. Ebenezer, 2005, Ophthalmic Research.

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

S. Bhattacharya, I. Cree, D. Larkin, 2003 .

Molecular analysis of the VSX1 gene in familial keratoconus.

R. Gwilliam, S. Tuft, P. Hysi, 2007, Molecular vision.

Clinical and molecular characterization of a family with autosomal recessive cornea plana.

A. Hardcastle, S. Hariprasad, R. Allen, 2005, Archives of ophthalmology.

Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.

S. Tuft, S. Bhattacharya, P. Hysi, 2010, A M A Archives of Ophthalmology.

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation

S. Tuft, S. Bhattacharya, K. Jirsova, 2007, British Journal of Ophthalmology.

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Sue Povey, S. Povey, A. Webster, 2004, Human molecular genetics.

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

D. Hunt, A. Bird, S. Bhattacharya, 2001, Molecular cell.

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

P. Beighton, S. Bardien, C. Inglehearn, 1995, Human molecular genetics.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

A. Webster, M. Cheetham, D. Bamiou, 2003, Journal of medical genetics.

Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

D. Hunt, S. Bhattacharya, C. Inglehearn, 1994, Nature Genetics.

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

A. Stockman, G. Holder, M. Michaelides, 2005, Investigative ophthalmology & visual science.

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

M. Fox, S. Povey, P. Khaw, 2000, American journal of human genetics.

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.

S. Bhattacharya, J. Mcgill, N. Ebenezer, 1997, American journal of human genetics.

De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity

K. Gregory-Evans, C. Gregory‐Evans, P. Hykin, 2001, Journal of medical genetics.

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)

A. Moore, P. Francis, E. Maher, 2004, Ophthalmic genetics.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Caterina Ripamonti, Naheed Kanuga, Michel Michaelides, 2010, American journal of human genetics.

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

J. Weber, A. Child, G. Brice, 2007, Journal of Medical Genetics.

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

S. Bhattacharya, S. Bhattacharya, M. Gorin, 2000, Investigative ophthalmology & visual science.

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

S. Tuft, S. Bhattacharya, K. Jirsova, 2008, Ophthalmic Research.

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

A. Stockman, C. Ripamonti, G. Holder, 2012, Advances in experimental medicine and biology.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

F. Fitzke, A. Webster, M. Cheetham, 2004, British Journal of Ophthalmology.

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

T. Aung, R. Hitchings, S. Bhattacharya, 2003, Journal of medical genetics.

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population

D. Mackey, L. Kearns, J. Ruddle, 2009, British Journal of Ophthalmology.

Assignment1 of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids

C. Gregory‐Evans, N. Ebenezer, S. Halford, 2001, Cytogenetic and Genome Research.

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

M. Krawczak, S. Bhattacharya, T. Aung, 2001, Human Genetics.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.