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ARVO Annual Meeting Abstract May 2006

RP1L1 Is Required for Appropriate Outer Segment Formation

J. Zuo; J. Liu; T. Yamashita; R. Griffith; A. Romeo; S.J. Bowne; S.P. Daiger; L.S. Sullivan; M.E. C. Fitzgerald

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4749.

ARVO Annual Meeting Abstract May 2006

Characterizing Retinal IMPDH1 in Several Mammalian Species

C.J. Spellicy; S.J. Bowne; L.S. Sullivan; J. Zhu; Q. Liu; E.A. Pierce; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4901.

ARVO Annual Meeting Abstract May 2006

Identification of a Large Insertion/Deletion in the PRPF31 Gene in a Family with adRP

L.S. Sullivan; S.J. Bowne; C.R. Seaman; D.G. Birch; D.H. Wheaton; R.A. Lewis; S.H. Blanton; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1704.

ARVO Annual Meeting Abstract May 2006

Exonic Deletions in Autosomal Dominant Retinitis Pigmentosa Genes May Be a Frequent Cause of Retinal Disease

S.J. Bowne; S.P. Daiger; J.R. Heckenlively; D.G. Birch; D.H. Wheaton; L.S. Sullivan

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1705.

ARVO Annual Meeting Abstract May 2006

Clinical Characterization of RP11 in Five Families With Identified PRPF31 Mutations

D.G. Birch; D.H. Wheaton; K.G. Locke; S.J. Bowne; L.S. Sullivan; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1037.

ARVO Annual Meeting Abstract May 2005

Clinical Characterization of RP10 in a Large Family With an Identified (Asp226Asn) IMPDH1 Mutation

D.K. H. Wheaton; P. Kozma; G.E. Fish; K.G. Locke; S.J. Bowne; L.S. Sullivan; S.P. Daiger; D.G. Birch

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):512.

ARVO Annual Meeting Abstract May 2005

Linkage Mapping in Families With Autosomal Dominant Retinitis Pigmentosa (adRP)

L.S. Sullivan; S.J. Bowne; S.P. Shankar; S.H. Blanton; J.R. Heckenlively; D.G. Birch; D.H. Wheaton; M.Z. Pelias; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):2293.

ARVO Annual Meeting Abstract May 2005

Why do Mutations in a Widely Expressed Gene, IMPDH1, Cause Autosomal Dominant Retinitis Pigmentosa?

S.J. Bowne; L.S. Sullivan; J. Zhu; Q. Liu; E.A. Pierce; J.N. Ebright; C. Bowes Rickman; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3114.

ARVO Annual Meeting Abstract May 2005

A Potential Interaction Between the RP1 and IMPDH1 Proteins

Q. Liu; C. Cukras; S.J. Bowne; J. Zhu; L.S. Sullivan; S.P. Daiger; E.A. Pierce

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1710.

ARVO Annual Meeting Abstract May 2005

Mutations in IMPDH1 Are Associated With Leber Congenital Amaurosis

S.P. Daiger; L.S. Sullivan; S.E. Mortimer; L. Hedstrom; A.I. Gire; J. Zhu; J.R. Heckenlively; D.G. Birch; D.H. Wheaton; S.J. Bowne

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1815.

ARVO Annual Meeting Abstract May 2004

Analysis of protein haplotypes in trans as factors modifying phenotypic variation of retinal dystrophies caused by a splice site mutation in the peripherin/RDS gene

S.P. Shankar; P. Kozma; D.G. Birch; D. Hughbanks–Wheaton; K.G. Locke; R.S. Ruiz; L.S. Sullivan; S.J. Bowne; E.M. Stone; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):3719.

ARVO Annual Meeting Abstract May 2004

Autosomal dominant retinitis pigmentosa: exclusion of known and mapped genes in three families.

L.S. Sullivan; S.J. Bowne; S.P. Shankar; D.G. Birch; D. Hughbanks–Wheaton; J.R. Heckenlively; S.H. Blanton; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4747.

ARVO Annual Meeting Abstract May 2004

CLINICAL CHARACTERIZATION OF DISEASE SEVERITY AND PROGRESSION IN X–LINKED RETINITIS PIGMENTOSA (XLRP) ASSOCIATED WITH RPGR MUTATIONS:

D.K. H. Wheaton; D.G. Birch; K.G. Locke; A. Swaroop; B. Yashar; K. Haag Branham; S.J. Bowne; L.S. Sullivan; S.P. Daiger; D.R. Hoffman

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):5160.

ARVO Annual Meeting Abstract May 2004

Autosomal dominant retinitis pigmentosa: prevalence of disease–causing mutations in known genes.

S.J. Bowne; L.S. Sullivan; A.I. Gire; D.G. Birch; D. Hughbanks–Wheaton; J.R. Heckenlively; J. Zhu; C.J. RaySpellicy; E.M. Gutter; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2457.

ARVO Annual Meeting Abstract May 2003

Novel Mutations Identified in a Screen of Patients With Autosomal Dominant Retinitis Pigmentosa

L.S. Sullivan; S.J. Bowne; M.M. Hills; J.R. Heckenlively; D.G. Birch; D. Hughbanks-Wheaton; J.E. Liebelt; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2003; 44(13):2305.

ARVO Annual Meeting Abstract May 2003

Frequency and Spectrum of IMPDH1 Mutations Associated with Autosomal Dominant Retinitis Pigmentosa

S.J. Bowne; A. Gire; L.S. Sullivan; J.R. Heckenlively; D.G. Birch; D. Hughbanks-Wheaton; R.A. Lewis; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2003; 44(13):2307.

ARVO Annual Meeting Abstract May 2003

Mutations in X-Linked RPGR in Families With Apparent Autosomal Dominant Retinitis Pigmentosa (adRP)

A. Gire; S.J. Bowne; L.S. Sullivan; D.G. Birch; D. Hughbanks-Wheaton; J.R. Heckenlively; S.P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2003; 44(13):2313.

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