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Scholar Results 1 - 10 of about 101 related to Chan: Rhodopsin mutations in Chinese patients with retinitis pigmentosa. (0.10 sec) 

Rhodopsin mutations in Chinese patients with retinitis pigmentosa

- nih.gov [PDF] 
WM Chan, KY Yeung, CP Pang, L Baum, TC … - British Journal of Ophthalmology, 2001 - bjo.bmj.com
AIM To determine the pattern of rhodopsin mutations in Chinese retinitis
pigmentosa (RP) patients. ... METHODS The rhodopsin gene was examined in 101 RP
patients and 190 controls from Hong Kong. ... RESULTS Three coding ...
Cited by 9 - Related articles - BL Direct - All 8 versions

Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype- …


C Capeans, MJ Blanco, MV Lareu, F Barros, A … - Clinical genetics, 1998 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
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degraded, the site should continue to be functional. We recommend using the ...
Cited by 6 - Related articles - BL Direct - All 3 versions

Molecular diagnostics for retinitis pigmentosa


KY Yeung, L Baum, WM Chan, DSC Lam, … - Clinica Chimica Acta, 2001 - Elsevier
Background: At least 1 million people worldwide have retinitis pigmentosa (RP),
making it relatively common among the inherited forms of blindness. Mutations in
many genes may cause RP. The most common known mutation, Pro347Leu in ...
Cited by 12 - Related articles - All 4 versions

RP 1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal …


L Baum, WM Chan, KY Yeung, DSC Lam, … - Human Mutation, 2001 - interscience.wiley.com
Heterozygous truncating mutations in the RP1 gene cause 7% of autosomal dominant
retinitis pigmentosa (RP) cases. To examine the role of RP1 mutations in RP, we
screened 101 unrelated Chinese RP patients (unselected for mode of ...
Cited by 12 - Related articles - BL Direct - All 3 versions

[CITATION] Identification of two novel mutations (E332X and c153delC) in the RPGR gene in two Chinese …


L Liu, L Jin, M Liu, Y Wei, X Wu, Y Liu… - Hum Mutat, 2000
Cited by 4 - Related articles

Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant …


M Kawamura, Y Wada, Y Noda, T Itabashi, SI … - American journal of ophthalmology, 2004 - Elsevier
To determine the frequency and kinds of mutations in the RP1 gene, and to
characterize the clinical features of a Japanese family with autosomal dominant
retinitis pigmentosa (ADRP) with a novel 2336 to 2337delCT mutation in the ...
Cited by 7 - Related articles - All 15 versions

[CITATION] Genotype-phenotype correlation in X-linked retinitis pigmentosa family with a novel …


MA Blasi, P Grammatico, R Rinaldi… - Invest Ophthalmol Vis Sci, 2001
Cited by 2 - Related articles

Molecular genetic analysis for Japanese patients with autosomal dominant retinitis …


Y Wada, M Tamai - Nippon Ganka Gakkai Zasshi, 2003 - ncbi.nlm.nih.gov
PURPOSE: To identify the common mutations in Japanese patients with autosomal
dominant retinitis pigmentosa(ADRP), and to show that the kind and frequency of
mutations depend on race. METHODS: Previously reported mutations for ADRP ...
Cited by 8 - Related articles - BL Direct - All 2 versions

[CITATION] Syndromic retinal dystrophy


RA Pagon - Retinitis pigmentosa: Present knowledge and outlook. …, 1993
Cited by 8 - Related articles

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin …


KT Oh, R Longmuir, DM Oh, EM Stone, K Kopp … - American journal of ophthalmology, 2003 - Elsevier
When all patients with mutations at codons 347 and 23 were compared, loss of
visual fields was significantly worse in patients with codon 347 changes (P =
.0003). Only rod responses of the electroretinograms were significantly ...
Cited by 15 - Related articles - All 10 versions


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