(Q33908247)

29 July 2017

title

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

1 reference

29 July 2017

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Lin Li

1

1 reference

29 July 2017

Xueshan Xiao

2

1 reference

29 July 2017

Shiqiang Li

3

1 reference

29 July 2017

Xiaoyun Jia

4

1 reference

29 July 2017

Panfeng Wang

5

1 reference

29 July 2017

Xiangming Guo

6

1 reference

29 July 2017

Xiaodong Jiao

7

1 reference

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

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

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