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Scholar Results 1 - 10 of about 101 related to Dietrich: A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant.... (0.09 sec) 

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis …

- nih.gov
K Dietrich, FK Jacobi, S Tippmann, R Schmid, … - British Journal of Ophthalmology, 2002 - bjo.bmj.com
Background: Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in
autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been
recently identified. Initial reports suggest that mutations in the RP1 gene ...
Cited by 6 - Related articles - BL Direct - All 7 versions

IDENTIFICATION OF THE RP1 AND RP10 (IMPDH1) GENES CAUSING AUTOSOMAL …


SP Daiger, LS Sullivan, SJ Bowne, A Kennan, … - Advances in experimental medicine and biology, 2003 - pubmedcentral.nih.gov
In a project begun more than 15 years ago we used linkage mapping and positional
candidate gene cloning to identify two genes causing autosomal dominant
retinitis pigmentosa (adRP). The genes are RP1, which maps to chromosome ...
Related articles - BL Direct - All 2 versions

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q

- bmj.com
CF INGLEHEARN, J McHALE, TJ KEEN, H … - British Medical Journal, 1999 - jmg.bmj.com
The RP1 locus on 8q was first identified by linkage analysis in a large pedigree
known as UCLA-RP01, originating in the Appalachian mountains of Kentucky in
eastern USA. 11 The phenotype in UCLA-RP01 is described as type 2 or R type ...
Cited by 7 - Related articles - BL Direct - All 6 versions

RP1 protein truncating mutations predominate at the RP1 adRP locus

- iovs.org
A Payne, E Vithana, S Khaliq, A Hameed, J … - Investigative ophthalmology & visual science, 2000 - ARVO
PURPOSE. Recent reports have shown that the autosomal dominant retinitis
pigmentosa (adRP) phenotype linked to the pericentric region of chromosome 8 is
associated with mutations in a gene designated RP1. Screening of the whole ...
Cited by 19 - Related articles - BL Direct - All 3 versions

The correlation between retinal circulation and function in branch retinal artery occlusion


K Ishikawa, I Kimura, K Shinoda, H Ohde, S … - Nippon Ganka Gakkai zasshi, 2002 - ncbi.nlm.nih.gov
PURPOSE: To investigate retinal circulation and function in eyes with branch
retinal artery occlusion(BRAO) using a scanning laser Doppler flow-meter (SLDF)
and multifocal electroretinogram (mERG). METHODS: In juxtapapillary and ...
Cited by 1 - Related articles - BL Direct - All 3 versions

Retinal Evaluation of Patients on Chronic Amiodarone Therapy


S Shaikh, N Shaikh, SH Chun, JM Spin, MS … - Retina, 2003 - journals.lww.com
Cited Here...: Eleven patients ranging in age from 52 to 67 years were recruited
from the Stanford University Medical Center Department of Cardiology for
ophthalmologic examination. Patients had received amiodarone at various ...
Cited by 1 - Related articles - BL Direct - All 3 versions

The value of multifocal ERG in diagnosis of discrete macular dystrophies


M Zaninetti, AB Safran - Klinische Monatsblätter für Augenheilkunde, 2004 - ncbi.nlm.nih.gov
BACKGROUND: Multifocal ERG is being extensively applied to numerous retinal
disorders. It has gained particular clinical value in retinal disorders
developing without morphological alterations. PATIENTS AND METHODS: We ...
Cited by 1 - Related articles

Multifocal electroretinography in acquired macular dysfunction


U Kretschmann, T Schlote, N Stübiger, K … - Klinische Monatsblätter für Augenheilkunde, 1998 - ncbi.nlm.nih.gov
BACKGROUND: Multifocal electroretinography allows physiological mapping of the
central retina. The purpose of this study was to describe the spatial
distribution of ERG-activity in patients with impairment of macular ...
Cited by 1 - Related articles

A differentiated study of the retinal function in segmental retinitis pigmentosa by multifocal …


AM Palmowski, R Allgayer, B Heinemann- … - Der Ophthalmologe: Zeitschrift der Deutschen …, 2001 - ncbi.nlm.nih.gov
PURPOSE: Generalized retinal degenerations such as retinitis pigmentosa may
manifest with focal retinal dysfunctions. These may be detected objectively by
new electrophysiological techniques, such as multifocal electroretinography ...
Cited by 1 - Related articles

The influence of experimental scotoma on multifocal electroretinogram


G Luo, MF Marmor, C Aimee - Yan ke xue bao= Eye science/" Yan ke xue bao" bian ji …, 2000 - ncbi.nlm.nih.gov
PURPOSE: To detect the sensitivity and the repeatability of multifocal
electroretinogram (mfERG). METHOD: The effects of experimental absolute and
relative scotomas on mfERG with 103 hexagons were observed on 8 normal ...
Cited by 1 - Related articles - BL Direct


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