- ►nih.gov - Free from Publisher SS Dandekar, ND Ebenezer, C Grayson, JP … - British Journal of Ophthalmology, 2004 - bjo.bmj.com Conclusion: The distinct phenotype in this family, caused by this frameshifting
mutation in RP2, broadens the phenotypic spectrum of X linked retinitis
pigmentosa. The absence of RP2 protein suggests that loss of protein ... Cited by 4 - Related articles - BL Direct - All 10 versions
FYK Demirci, AL Radak, BW Rigatti, TS Mah, … - American journal of ophthalmology, 2004 - Elsevier A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G>A,
last base of exon 2) predicted to cause a missense change (G52R) in the final
protein. This study was performed to determine whether this mutation ... Cited by 1 - Related articles - All 13 versions
Y Wada, H Sato, T Itabashi, M Kawamura, Y … - Investigative Ophtalmology and Visual Science, 2004 - ARVO Results: 16 causative mutations were found in 20 of the 96 patients with ADRP
(20%). The prevalence of the causative mutations in the 9 genes were: rodopsin,
2.5%; peripherin/RDS, 5.2%; RP1, 1%; NRL, 0%; FSCN2, 4%; PRPF31, 4%; PRPC8, ... Cited by 1 - Related articles
X Sheng, X Zhang, W Wu, W Zhuang, R Meng … - Canadian journal of ophthalmology. Journal canadien …, 2008 - ncbi.nlm.nih.gov BACKGROUND: The objective of this study was to determine the frequency and
characteristics of mutations in the RP1 gene and to characterize mutations with
the clinical features in the Chinese family with autosomal dominant ... Cited by 1 - Related articles - BL Direct - All 2 versions
[CITATION] Rio Frio T, et al. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression …
C Kannabiran - Expert Review of Ophthalmology, 2008 - ingentaconnect.com Retinitis pigmentosa is a clinically and genetically heterogeneous group of
primary retinal degenerations with autosomal, X-linked and mitochondrial modes
of inheritance. A total of 40 genes have been identified to date that, when ... Cited by 2 - Related articles - All 8 versions
MO Sweeney, TL McGee, EL Berson, TP … - Molecular vision, 2007 - ncbi.nlm.nih.gov PURPOSE: To determine the the prevalence of pathogenic mutations in the gene
encoding lecithin retinol acyltransferase (LRAT) in patients from North America
with either Leber congenital amaurosis (LCA) or autosomal recessive ... Cited by 2 - Related articles
- ►nih.gov SP Daiger, LS Sullivan, AI Gire, DG Birch, JR … - Advances in experimental medicine and biology, 2008 - Springer Inherited retinal diseases such as autosomal dominant retinitis pigmentosa
(adRP) are strikingly complex, with mutations in many different genes causing
the same disease, with many different mutations in each gene, and with ... Cited by 2 - Related articles - BL Direct - All 4 versions
XL Zhang, M Liu, XH Meng, WL Fu, ZQ Yin, … - Life Sciences, 2006 - Elsevier Retinitis pigmentosa is a very heterogeneous group of retinal degenerations,
with multiple genes identified in each mode of inheritance. For autosomal
dominant retinitis pigmentosa (ADRP), the most common gene is the rhodopsin ... Cited by 2 - Related articles - All 3 versions
