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ARVO Annual Meeting Abstract May 2006

Identification of Mutations in IMPDH1 in a Cohort of 96 Recessive RP Patients

N.H. Waseem; A. Ortiz; C. Maubaret; A. Kennan; P. Humphries; S. Daiger; A. Webster; S. Jenkins; A.C. Bird; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5800.

ARVO Annual Meeting Abstract May 2006

The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early–Onset Retinal Dystrophy

A.R. Webster; N. Waseem; S.A. Jenkins; S.S. Bhattacharya; A.T. Moore; R.H. H. Henderson

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1689.

ARVO Annual Meeting Abstract May 2006

Genotype–Phenotype Study in Autosomal Dominant Retinitis Pigmentosa With PRPF31 Mutations (RP11): Incomplete Penetrance or Variable Expressivity?

V. Vaclavik; N.H. Waseem; R. Kirby; S.A. Jenkins; G.E. Holder; A.G. Robson; A.C. Bird; A.R. Webster; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1701.

ARVO Annual Meeting Abstract May 2006

Linkage of Chinese Families With Autosomal Recessive Retinitis Pigmentosa to the RP25 Locus

M.M. Abd El–Aziz; M.F. El–Ashry; L. Abu Safieh; W.–M. Chan; C.P. Pang; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3273.

ARVO Annual Meeting Abstract May 2006

A New Locus (RP31) for Autosomal Dominant Retinitis Pigmentosa Maps on Chromosome 9p

M.G. Papaioannou; C.F. Chakarova; Q.C. Prescott; I. Lopez; T. Theis; N. Waseem; R.K. Koenekoop; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3275.

ARVO Annual Meeting Abstract May 2006

Functional Characterisation of Two Mutations in the Splicing Factor Protein PRPF31 Linked to Autosomal Dominant Retinitis Pigmentosa

S.E. Wilkie; V. Vaclavik; H. Wu; M.J. Warren; S.S. Bhattacharya; D.M. Hunt

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3735.

ARVO Annual Meeting Abstract May 2006

Mutant Prpf3 Pre–mRNA Splicing Factor Aggregates Inside the Nucleus of Neuronal Cells

V. Marigo; A. Comitato; C.F. Chakarova; D. Sanges; K. Bujakowska; M. Karali; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1023.

ARVO Annual Meeting Abstract May 2006

Mutations Causing Retinitis Pigmentosa in Gypsy Families

C.F. Chakarova; S. Cherninkova; A. Jordanova; R. Kaneva; T. Colclough; G. Black; S. Ramsden; I. Tournev; I. Kremensky; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1040.

ARVO Annual Meeting Abstract May 2005

Detailed Clinical Characteristics of a Family Segregating a Novel Mutation in the Mertk Gene

M. Tschernutter; N.H. Waseem; A. Perkins; S.S. Bhattacharya; G.E. Holder; S.A. Jenkins; A.C. Bird; R.R. Ali; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):537.

ARVO Annual Meeting Abstract May 2005

Mutation Screening of CYP1B1 Gene in Egyptian and Saudi Arabian Patients With Primary Congenital Glaucoma: Identification of a Novel Mutation

M.F. El–Ashry; M.M. Abd El–Aziz; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1096.

ARVO Annual Meeting Abstract May 2005

Functional Studies of Mutations Found in PRPF3 Pre–MRNA Splicing Factor Causing RP18

V. Marigo; C. Spampanato; C.F. Chakarova; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):2294.

ARVO Annual Meeting Abstract May 2005

Identification of the Genetic Basis of Partial Penetrance Phenotype of RP11 Locus (PRPF31) on Chromosome 19q13.4

B. Ghosh; C. Charakova; E.N. Vithana; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3831.

ARVO Annual Meeting Abstract May 2005

Familial Keratoconus

P. Liskova; M.F. El–Ashry; N.D. Ebenezer; M. Filipec; S.S. Bhattacharya; S. Tuft

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):4940.

ARVO Annual Meeting Abstract May 2005

A Study of the Nuclear Trafficking of the Splicing Factor Protein PRPF31 Linked to Autosomal Dominant Retinitis Pigmentosa (ADRP)

S.E. Wilkie; K.J. Morris; S.S. Bhattacharya; M.J. Warren; D.M. Hunt

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):5167.

ARVO Annual Meeting Abstract May 2005

Significance of the Usherin Cys759Phe Substitution in Non–Syndromic Retinal Dystrophy in the UK

S. Jenkins; Z. Saihan; E. Haralambous; N. Waseem; S.S. Bhattacharya; A.T. Moore; M. Bitner–Glindzicz; A.R. Webster

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1804.

ARVO Annual Meeting Abstract May 2005

Prevalence of PRPF31 Mutations in ADRP Patients in UK Population

N.H. Waseem; A.C. Yau; B. Scott; A. Webster; S. Jenkins; A.C. Bird; E. Vithana; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1807.

ARVO Annual Meeting Abstract May 2005

Mutation Screening of Four Candidate Genes, KHDRBS2, PTP4A1, KIAA1411, and OGFRL1, in the Autosomal Recessive Retinitis Pigmentosa (RP25) Critical Interval

M.M. Abd El–Aziz; R.J. Patel; M.F. El–Ashry; I. Barragan; I. Marcos; G. Antinolo; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1808.

ARVO Annual Meeting Abstract May 2005

Bulgarian Roma (Gypsy) Pedigree With Severe X–Linked Retinitis Pigmentosa

C.F. Chakarova; I. Tournev; S. Cherninkova; R. Kaneva; A. Jordanova; B. Gill; M. Papaioannou; A. Hardcastle; I. Kremensky; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1822.

ARVO Annual Meeting Abstract May 2004

Phenotypic features of glaucoma patients with the Optineurin E50K mutation

T. Aung; K. Okada; T. Rezaie; A.C. Viswanathan; A.H. Child; G. Brice; O.J. Lehmann; S.S. Bhattacharya; M. Sarfarazi; R.A. Hitchings

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4626.

ARVO Annual Meeting Abstract May 2004

Mutation screening of genes from the RP17 interval in patients with autosomal dominant retinitis pigmentosa (adRP)

C.F. Chakarova; A.I. den Hollander; F.P. M. Cremers; B. Wissinger; E. Zrenner; S.S. Bhattacharya

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4741.

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