Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients (Q35007950)

5 August 2017

title

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients (English)

1 reference

5 August 2017

11

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Christina Zeitz

Christina Zeitz

13

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Isabelle Audo

Isabelle Audo

1

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Marie-Elise Lancelot

5

Marie-Elise Lancelot

1 reference

Veselina Moskova-Doumanova

5 August 2017

7

Veselina Moskova-Doumanova

1 reference

5 August 2017

3

Saddek Mohand-Saïd

1 reference

5 August 2017

6

Aline Antonio

1 reference

5 August 2017

Gaël Manes

2

1 reference

5 August 2017

Anne Friedrich

4

1 reference

5 August 2017

Oliver Poch

8

1 reference

5 August 2017

Xavier Zanlonghi

9

1 reference

5 August 2017

Christian P Hamel

10

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5 August 2017

Shomi S Bhattacharya

12

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5 August 2017

language of work or name

English

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publication date

17 February 2010

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Investigative Ophthalmology Visual Science

5 August 2017

published in

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5 August 2017

volume

51

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5 August 2017

issue

7

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5 August 2017

page(s)

3687-3700

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Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

5 August 2017

cites work

1 reference

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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

8 July 2018

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8 July 2018

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Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

8 July 2018

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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

8 July 2018

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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

8 July 2018

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Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa

8 July 2018

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Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.

8 July 2018

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Rhodopsin mutations in Chinese patients with retinitis pigmentosa

8 July 2018

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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

8 July 2018

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Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.

8 July 2018

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Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1

8 July 2018

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Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

8 July 2018

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A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity

8 July 2018

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Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations

8 July 2018

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Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene

8 July 2018

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Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin

8 July 2018

1 reference

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Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa

8 July 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

8 July 2018

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Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe

8 July 2018

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

8 July 2018

1 reference

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Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

8 July 2018

1 reference

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Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102265

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102265

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102265

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102265

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102265

ISCEV Standard for full-field clinical electroretinography (2008 update).

8 July 2018

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Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

26 October 2018

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Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

26 October 2018

1 reference

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Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)

26 October 2018

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Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

26 October 2018

1 reference

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A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.

26 October 2018

1 reference

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Analysis of rhodopsin gene in patients with retinitis pigmentosa using allele-specific polymerase chain reaction

26 October 2018

1 reference

12 December 2020

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin

1 reference

12 December 2020

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

1 reference

12 December 2020

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

1 reference

12 December 2020

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4

1 reference

12 December 2020

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.09-4766

1 reference

5 August 2017

1 reference

5 August 2017

1 reference