Novel mutations in MERTK associated with childhood onset rod-cone dystrophy (Q33728446)

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21 January 2020

title

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy (English)

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21 January 2020

2

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21 January 2020

Mohammed A Aldahmesh

9

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21 January 2020

Brian F Meyer

11

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21 January 2020

author name string

Donna S Mackay

1

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21 January 2020

Panagiotis I Sergouniotis

3

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21 January 2020

Zheng Li

4

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21 January 2020

Phillip Moradi

5

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21 January 2020

Graham E Holder

6

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21 January 2020

Naushin Waseem

7

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21 January 2020

Shomi S Bhattacharya

8

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21 January 2020

Andrew R Webster

12

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21 January 2020

Anthony T Moore

13

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21 January 2020

Fowzan S Alkuraya

10

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21 January 2020

publication date

9 March 2010

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21 January 2020

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21 January 2020

volume

16

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21 January 2020

page(s)

369-377

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Normative data for macular thickness by high-definition spectral-domain optical coherence tomography (spectralis).

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

ISCEV standard for clinical pattern electroretinography--2007 update

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Differential roles of CD36 and alphavbeta5 integrin in photoreceptor phagocytosis by the retinal pigment epithelium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Alu repeats and human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

The origin of interspersed repeats in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Automated splicing mutation analysis by information theory

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838735

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20300561

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

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21 January 2020

PubMed publication ID

20300561

1 reference