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Genetics October 2013

IQCB1 and PDE6B Mutations Cause Similar Early Onset Retinal Degenerations in Two Closely Related Terrier Dog Breeds

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Orly Goldstein; Jason G. Mezey; Peter A. Schweitzer; Adam R. Boyko; Chuan Gao; Carlos D. Bustamante; Julie Ann Jordan; Gustavo D. Aguirre; Gregory M. Acland
TAGS: dog, domestic, mutation, retinal degeneration, retinitis pigmentosa, homozygote, single nucleotide polymorphism, heterozygote, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2013; 54(10):7005-7019. doi: https://doi.org/10.1167/iovs.13-12915

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Achromatopsia Caused by Genomic CNGB3 Deletion Identical by Descent in Multiple Canine Breeds

Connie Y. Yeh; Orly Goldstein; Debbie Holley; Heather J. Huson; Amy M. Knollinger; Sue E. Pearce-Kelling; Gregory M. Acland; Andras M. Komaromy

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4550. doi:

Biochemistry and Molecular Biology May 2011

Structural Organization and Expression Pattern of the Canine RPGRIP1 Isoforms in Retinal Tissue

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Tatyana Kuznetsova; Barbara Zangerl; Orly Goldstein; Gregory M. Acland; Gustavo D. Aguirre
TAGS: body tissue, dog, domestic, exons, protein isoforms, genes, retina, dna, complementary
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):2989-2998. doi: https://doi.org/10.1167/iovs.10-6094

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

Adult Onset Autosomal Recessive Hereditary Retinal Degeneration in Italian Greyhound Dogs

Orly Goldstein; Susan E. Pearce-Kelling; Gustavo D. Aguirre; Gregory M. Acland

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4351. doi:

ARVO Annual Meeting Abstract April 2010

Whole-Genome Association Study Identifies the Canine Cone-Rod Dystrophy 2 Locus

G. M. Acland; J. G. Mezey; A. R. Boyko; C. Gao; W. Wang; C. D. Bustamante; G. D. Aguirre; O. Goldstein

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4046. doi:

ARVO Annual Meeting Abstract April 2010

Cone- Rod Dystrophy 3 Whole- Genome Association Study Identifies a Locus on Canine Chromosome 16

O. Goldstein; J. G. Mezey; A. R. Boyko; C. Gao; W. Wang; C. D. Bustamante; G. D. Aguirre; G. M. Acland

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):1657. doi:

ARVO Annual Meeting Abstract April 2010

Photoreceptor Cell Death and Proliferation in the STK38L Mutant Dog Retina Precedes Development of Hybrid Rod/S-Cone Photoreceptors

G. D. Aguirre; Á. I. Berta; O. Goldstein; A. Szel; P. J. O'Brien; G. M. Acland; K. Boesze-Battaglia; W. A. Beltran

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):5204. doi:

ARVO Annual Meeting Abstract April 2009

The CNGB3 Deletion in Canine Achromatopsia Extends Over 400 Kb and 3 Genes

O. Goldstein; A. V. Kukekova; A. M. Komaromy; G. D. Aguirre; G. M. Acland

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):1941. doi:

ARVO Annual Meeting Abstract April 2009

Characterization of Canine RPGRIP1 cDNA and Identification of Two Alternatively Spliced Isoforms in Dog Retina

T. N. Kuznetsova; B. Zangerl; O. Goldstein; G. M. Acland; G. D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):489. doi:

ARVO Annual Meeting Abstract April 2009

Genetic and Phenotypic Heterogeneity in Canine Colobomatous Syndromes

G. M. Acland; O. Goldstein; A. V. Kukekova; G. D. Aguirre; S. E. Pearce-Kelling

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4147. doi:

ARVO Annual Meeting Abstract April 2009

Canine Multifocal Chorioretinopathy in Borzoi Dogs Is Not Associated With the Choroideremia Gene

A. V. Kukekova; L. Chevallier; O. Goldstein; G. M. Acland

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4170. doi:

ARVO Annual Meeting Abstract April 2009

Bimodal Cell Death Kinetics in the STK 38L (erd) Mutant Dog Retina

A. I. Berta; W. A. Beltran; O. Goldstein; A. Szel; G. M. Acland; G. D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4511. doi:

ARVO Annual Meeting Abstract May 2008

Canine Rod Cone Dysplasia Type 2 (rcd2) Is the Canine Ortholog of Human and Murine RD3

A. V. Kukekova; O. Goldstein; J. L. Johnson; A. Swaroop; J. S. Friedman; G. D. Aguirre; G. M. Acland

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1702. doi:

ARVO Annual Meeting Abstract May 2008

Canine Oculoskeletal Dysplasia Models of Human Autosomal Recessive Stickler Syndrome

G. M. Acland; R. Guyon; A. V. Kukekova; T. Kouznetsova; J. L. Johnson; G. D. Aguirre; O. Goldstein

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1703. doi:

ARVO Annual Meeting Abstract May 2008

The Mutant Gene Causing Canine Early Retinal Degeneration Identifies a Novel Pathway Critical for Photoreceptor Development

O. Goldstein; A. V. Kukekova; G. D. Aguirre; E. M. Stone; D. C. Slusarski; L. Baye; A. R. Philp; G. M. Acland

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1704. doi:

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. doi:

ARVO Annual Meeting Abstract May 2006

Differentiating prcd and Non–prcd Forms of Canine Adult Onset Autosomal Recessive Hereditary Retinal Degenerations

O. Goldstein; S. Pearce–Kelling; B. Zengerl; G.M. Acland; G.D. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):3285. doi:

ARVO Annual Meeting Abstract May 2005

Candidate Gene Analyses in 3 Canine Cone–rod Dystrophies

O. Goldstein; G.D. Aguirre; G.M. Acland

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):3191. doi:

ARVO Annual Meeting Abstract May 2004

A Linkage Disequilibrium Map of the Progressive Rod Cone Degeneration Interval

O. Goldstein; J. Nelson; J. Kijas; D. Sidjanin; G. Acland; G. Aguirre

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4756. doi:

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IQCB1 and PDE6B Mutations Cause Similar Early Onset Retinal Degenerations in Two Closely Related Terrier Dog Breeds

Achromatopsia Caused by Genomic CNGB3 Deletion Identical by Descent in Multiple Canine Breeds

Structural Organization and Expression Pattern of the Canine RPGRIP1 Isoforms in Retinal Tissue

Adult Onset Autosomal Recessive Hereditary Retinal Degeneration in Italian Greyhound Dogs

Whole-Genome Association Study Identifies the Canine Cone-Rod Dystrophy 2 Locus

Cone- Rod Dystrophy 3 Whole- Genome Association Study Identifies a Locus on Canine Chromosome 16

Photoreceptor Cell Death and Proliferation in the STK38L Mutant Dog Retina Precedes Development of Hybrid Rod/S-Cone Photoreceptors

The CNGB3 Deletion in Canine Achromatopsia Extends Over 400 Kb and 3 Genes

Characterization of Canine RPGRIP1 cDNA and Identification of Two Alternatively Spliced Isoforms in Dog Retina

Genetic and Phenotypic Heterogeneity in Canine Colobomatous Syndromes

Canine Multifocal Chorioretinopathy in Borzoi Dogs Is Not Associated With the Choroideremia Gene

Bimodal Cell Death Kinetics in the STK 38L (erd) Mutant Dog Retina

Canine Rod Cone Dysplasia Type 2 (rcd2) Is the Canine Ortholog of Human and Murine RD3

Canine Oculoskeletal Dysplasia Models of Human Autosomal Recessive Stickler Syndrome

The Mutant Gene Causing Canine Early Retinal Degeneration Identifies a Novel Pathway Critical for Photoreceptor Development

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

Differentiating prcd and Non–prcd Forms of Canine Adult Onset Autosomal Recessive Hereditary Retinal Degenerations

Candidate Gene Analyses in 3 Canine Cone–rod Dystrophies

A Linkage Disequilibrium Map of the Progressive Rod Cone Degeneration Interval

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