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ARVO Annual Meeting Abstract May 2006

The Gly252arg Myocilin Mutation Confers Glaucoma of Intermediate Severity

S.L. Bennett; A.W. Hewitt; J.E. Richards; A.P. Booth; C. Inglehearn; R. Anwar; L.S. Kearns; E.M. Stone; J.E. Craig; D.A. Mackey

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):187.

ARVO Annual Meeting Abstract May 2006

Identification Of Regulatory Elements In The Mammalian Eye

T. Scheetz; K.–Y. Kim; R. Swiderski; T.A. Braun; J. Huang; T.L. Casavant; V.C. Sheffield; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5412.

ARVO Annual Meeting Abstract May 2006

The Optic Disc in Myocilin Glaucoma

A.W. Hewitt; S.L. Bennett; J.L. Poulsen; J.H. Fingert; P.M. McCartney; E.M. Stone; J.E. Craig; D.A. Mackey

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5445.

ARVO Annual Meeting Abstract May 2006

Variants in the WDR36 Gene Are Not Associated With Open Angle Glaucoma in a Large Cohort of Patients From Iowa

J.H. Fingert; W.L. M. Alward; Y.H. Kwon; S.P. Shankar; P.A. Moore; B.R. Roos; V.C. Sheffield; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5450.

ARVO Annual Meeting Abstract May 2006

ENU–Induced nob4 Mutant Mouse Available to the Vision Research Community

L.H. Pinto; M.H. Vitaterna; K. Shimomura; B. Young; S.M. Siepka; V.C. Sheffield; E.M. Stone; R.F. Mullins; M.T. Pletcher; J.S. Takahashi

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5769.

ARVO Annual Meeting Abstract May 2006

Retinal Characterization of a Mouse Homozygous for the Mutation That is the Most Common Cause of Bardet–Biedl Syndrome in Man: Met390Arg in BBS1

A.R. Philp; R.F. Mullins; C. Searby; D.Y. Nishimura; M.A. Ehlinger; J.S. East; R.M. Johnston; B. Yang; E.M. Stone; V.C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5777.

ARVO Annual Meeting Abstract May 2006

Macular Pigment in ABCA4–Associated Retinal Degenerations: Response to Lutein Supplementation

T.S. Aleman; A.V. Cideciyan; E.A. M. Windsor; S.B. Schwartz; L.M. Gardner; J.M. Emmons; K.G. Duncan; J.D. Steinberg; E.M. Stone; S.G. Jacobson

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5810.

ARVO Annual Meeting Abstract May 2006

Analysis of Correlated Gene Expression in a Large Cohort of Rats Assists the Discovery of Two New Genes Involved in Bardet Biedl Syndrome (BBS)

E.M. Stone; A.P. Chiang; T. Scheetz; K.A. Kim; R.E. Swiderski; D.Y. Nishimura; L.M. Affatigato; J. Huang; T.L. Casavant; V.C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):5919.

ARVO Annual Meeting Abstract May 2006

Clinical Phenotypes and Vitamin A Treatment for Sorsby’s Fundus Dystrophy

J.A. Galvin; G.A. Fishman; A.O. Edwards; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1422.

ARVO Annual Meeting Abstract May 2006

Retinal Disease Expression in Bardet–Biedl Syndrome 1 (BBS1) Is a Spectrum From Maculopathy to Retina–Wide Degeneration

A.A. Azari; T.S. Aleman; A.V. Cideciyan; S.B. Schwartz; E.A. M. Windsor; A.Y. Cheung; A. Sumaroka; E.M. Stone; V.C. Sheffield; S.G. Jacobson

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1425.

ARVO Annual Meeting Abstract May 2006

ABCA4 Sequence Variations in Somali and North American Populations

S.P. Shankar; A.M. Shire; J.J. S. Laffin; L.M. Streb; C.M. Taylor; H.L. Haines; J.C. Janutka; M.D. Megonigal; V.C. Sheffield; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1699.

ARVO Annual Meeting Abstract May 2006

Novel Retinal Gene (PRCD) Causes Progressive Rod–Cone Degeneration in Canines and Humans

B. Zangerl; O. Goldstein; S.J. P. Lindauer; S.E. Pearce–Kelling; A.R. Philp; A. Antosh; J.S. Felix; E.M. Stone; G.M. Acland; G.D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):2972.

ARVO Annual Meeting Abstract May 2006

Parapapillary Retina Is Spared Retinal Degeneration in Human ABCA4 Disease

A.V. Cideciyan; M. Swider; T.S. Aleman; A. Sumaroka; S.B. Schwartz; M.I. Roman; A.H. Milam; J. Bennett; E.M. Stone; S.G. Jacobson

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):2976.

ARVO Annual Meeting Abstract May 2006

Ethnic and Phenotypic Frequencies of Complement Factor H Polymorphism Y402H

M.A. Grassi; J.H. Fingert; J.C. Folk; T.E. Scheetz; A.M. Shire; R. Ritch; S.K. West; K. Kawase; R.F. Mullins; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4164.

ARVO Annual Meeting Abstract May 2005

Clinically Detectable Drusen Substructure in Fibulin 5 Associated Age–Related Macular Degeneration

C.B. Patel; E.M. Stone; P.G. Duffel; S.R. Russell

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):221.

ARVO Annual Meeting Abstract May 2005

Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON)

S.P. Shankar; V. Carelli; T.M. King; C.M. Taylor; H. Abdulkawy; T.A. Braun; S.P. Daiger; S.R. Salomao; A.A. Sadun; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):663.

ARVO Annual Meeting Abstract May 2005

Genome–Wide Genetic Analysis of Gene Expression Variation in the Mammalian Eye

E.M. Stone; R.E. Swiderski; K.Y. Kim; A.R. Philp; K.L. Knudtson; G. DiBona; J. Huang; V.C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):2390.

ARVO Annual Meeting Abstract May 2005

Gene Discovery in the Human Visual System

T. Scheetz; T.A. Braun; G. Hageman; T.L. Casavant; V.C. Sheffield; M.B. Soares; E.M. Stone

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3100.

ARVO Annual Meeting Abstract May 2005

Molecular Cloning of the Noerg–1 Mutation in Mouse Shows Mutagenesis Can Generate Valid Disease Models

L.H. Pinto; M.H. Vitaterna; K. Shimomura; S.M. Siepka; V.C. Sheffield; E.M. Stone; R.F. Mullins; J.S. Takahashi

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3189.

ARVO Annual Meeting Abstract May 2005

Gene Expression Analysis of Photoreceptor Cell Loss in a Mouse Model of Bardet Biedl Syndrome 4 (Bbs4)

R.E. Swiderski; D.Y. Nishimura; R.F. Mullins; M. Andrews; E.M. Stone; V.C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):5248.

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