Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis (Q33908247)

29 July 2017

title

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis (English)

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29 July 2017

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Lin Li

1

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29 July 2017

Xueshan Xiao

2

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29 July 2017

Shiqiang Li

3

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29 July 2017

Xiaoyun Jia

4

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29 July 2017

Panfeng Wang

5

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29 July 2017

Xiangming Guo

6

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29 July 2017

Xiaodong Jiao

7

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29 July 2017

Qingjiong Zhang

8

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29 July 2017

J Fielding Hejtmancik

9

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29 July 2017

language of work or name

English

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publication date

13 May 2011

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29 July 2017

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29 July 2017

volume

6

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29 July 2017

issue

5

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29 July 2017

page(s)

e19458

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Creative Commons CC0 License

29 July 2017

copyright license

start time

13 May 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

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cites work

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutation survey of known LCA genes and loci in the Saudi Arabian population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Molecular characterization of Leber congenital amaurosis in Koreans.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Leber congenital amaurosis: genes, proteins and disease mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

CRB1 mutation spectrum in inherited retinal dystrophies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Molecular genetics of Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Prediction of deleterious human alleles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Mutations in RPE65 cause Leber's congenital amaurosis

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0019458

Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094346

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21602930

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0019458

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference