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Scholar Results 1 - 10 of 11 citing Schuster: Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal.... (0.07 sec) 

Inactivating mutations of G protein-coupled receptors and diseases: structure-function …

- auburn.edu [PDF] 
YX Tao - Pharmacology and Therapeutics, 2006 - Elsevier
Since the discovery of the first rhodopsin mutation that causes retinitis
pigmentosa in 1990, significant progresses have been made in elucidating the
pathophysiology of diseases caused by inactivating mutations of G protein- ...
Cited by 32 - Related articles - All 7 versions

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with …


J Grondahl, R Riise, A Heiberg, T Leren, T … - Acta Ophthalmologica Scandinavica, 2007 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Cited by 2 - Related articles - BL Direct - All 3 versions

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation …


G Tanner, E Glaus, D Barthelmes, M Ader, J … - Hum Mutat, 2009 - interscience.wiley.com
Retinitis pigmentosa (RP) is a degenerative retinopathy leading to visual
impairment in more than 1.5 million patients worldwide. Splice site (SS)
mutations cause various diseases including RP. Most exonic donor ...
Cited by 2 - Related articles - All 5 versions

Defective development of photoreceptor membranes in a mouse model of recessive retinal …

- tmc.edu [PDF] 
AK Gross, G Decker, F Chan, IM Sandoval, … - Vision Research, 2006 - Elsevier
Retinal neurodegeneration occurs in several inherited diseases. Some of the most
severe disease alleles involve mutations at the C-terminus of rhodopsin, but in
no case is the pathogenic mechanism leading to cell death well understood. ...
Cited by 1 - Related articles - All 6 versions

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused …

- nih.gov
I Tsui, CL Chou, N Palmer, CS Lin, SH Tsang - Current eye research, 2008 - informahealthcare.com
Purpose: To phenotype a family with RHO (Asp190Asn or D190N) dominantly
inherited retinitis pigmentosa (RP) and to describe an approach to surveying
affected families. Methods: Four patients from a family with a history of ...
Related articles - All 6 versions

[PDF] GENETIC COUNSELLING IN VISUAL AND AUDITORY DISORDERS


GENLOSD EL ASESORAMIENTO, VY … - ARCH SOC ESP OFTALMOL, 2008 - oftalmo.com
Received: 12/3/07. Acceptedo: 24/10/08. Genetics Unit. La Fe University Hospital
and Genetics Dept. Valencia University and Biomedical Networked Research Center
for Rare Diseases (CIBERER). Valencia. Spain. 1 Ph.D in Biological ...
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Genetic counselling in visual and auditory disorders


JM Millán, E Aller, T Jaijo, E Grau, M Beneyto, … - Archivos de la Sociedad Española de Oftalmología, 2008 - SciELO Brasil
Related articles - Cached - All 3 versions

[PDF] El asesoramiento genético en los déficits visuales y auditivos


JM Millán, E Aller, T Jaijo, E Grau, M Beneyto, … - Archivos de la Sociedad Española de Oftalmología, 2008 - SciELO Espana
Recibido: 12/3/07. Aceptado: 24/10/08. Unidad de Genética. Hospital
Universitario La Fe y Departamento de Genética. Universidad de Valencia y
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). ...
Related articles - View as HTML - All 4 versions

El asesoramiento genético en los déficits visuales y auditivos Genetic counselling in visual …


L en Bioquímica - Arch Soc Esp Oftalmol, 2008 - SciELO Espana
Unidad de Genética. Hospital Universitario La Fe y Departamento de Genética.
Universidad de Valencia y Centro de Investigación Biomédica en Red de
Enfermedades Raras (CIBERER). Valencia. España. 1 Doctor en Ciencias ...
Related articles - Cached - All 2 versions

[PDF] VISUALES Y AUDITIVOS


GENLOSD EL ASESORAMIENTO - ARCH SOC ESP OFTALMOL, 2008 - SciELO Espana
Recibido: 12/3/07. Aceptado: 24/10/08. Unidad de Genética. Hospital
Universitario La Fe y Departamento de Genética. Universidad de Valencia y
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). ...
Related articles - View as HTML - All 2 versions


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