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Sena A. Gocuk et al.
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CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES A Long-Term Follow-up Study
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RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2019)
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Anna Skorczyk-Werner et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa
Julia-Sophia Bellingrath et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe
Aneta Sciezynska et al.
EXPERIMENTAL EYE RESEARCH (2016)
RPGR mutations might cause reduced orientation of respiratory cilia
Zuzanna Bukowy-Bieryllo et al.
PEDIATRIC PULMONOLOGY (2013)
Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
Jennifer D. Churchill et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease
Kari Branham et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model
Wei Chieh Huang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Retinitis Pigmentosa: Genes and Disease Mechanisms
Stefano Ferrari et al.
CURRENT GENOMICS (2011)
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling
Valerie Pelletier et al.
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A Frameshift mutation in RPGR Exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa
WA Beltran et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
DH Hong et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
X-linked retinitis pigmentosa:: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of Exon ORF15
I Bader et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
D Sharon et al.
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A comprehensive mutation analysis of RP2 and RPGR in a north American cohort of families with x-linked retinitis pigmentosa
DK Breuer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
Q Zhang et al.
HUMAN MOLECULAR GENETICS (2002)
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
R Vervoort et al.
NATURE GENETICS (2000)
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
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HUMAN MOLECULAR GENETICS (2000)
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