Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis (Q24678616)

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Language	Label	Description	Also known as
English	Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis	scientific article

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instance of

scholarly article

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case report

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title

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

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main subject

congenital disorder

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Leber congenital amaurosis

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based on heuristic

inferred from title

author

Thomas Meitinger

series ordinal

9

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Han G. Brunner

series ordinal

10

object named as

Han G Brunner

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Robert Koenekoop

series ordinal

2

object named as

Robert K Koenekoop

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Frans P M Cremers

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14

object named as

Frans P M Cremers

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Anneke den Hollander

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1

object named as

Anneke I den Hollander

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Carel B Hoyng

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11

object named as

Carel B Hoyng

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L Ingeborgh van den Born

series ordinal

12

object named as

L Ingeborgh van den Born

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Marijke I Zonneveld

series ordinal

7

object named as

Marijke N Zonneveld

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Tim M Strom

series ordinal

8

object named as

Tim M Strom

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Maarten Arends

series ordinal

5

object named as

Maarten L Arends

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author name string

Suzanne Yzer

series ordinal

3

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Irma Lopez

series ordinal

4

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Krysta E J Voesenek

series ordinal

6

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Klaus Rohrschneider

series ordinal

13

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language of work or name

English

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publication date

September 2006

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published in

American Journal of Human Genetics

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volume

79

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issue

3

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page(s)

556-61

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cites work

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

stated in

PubMed Central

reference URL

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retrieved

7 April 2017

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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7 April 2017

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

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PubMed Central

reference URL

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7 April 2017

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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7 April 2017

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

1 reference

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PubMed Central

reference URL

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7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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7 April 2017

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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7 April 2017

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

1 reference

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PubMed Central

reference URL

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7 April 2017

Predictive identification of exonic splicing enhancers in human genes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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7 April 2017

Allegro, a new computer program for multipoint linkage analysis

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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7 April 2017

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

retrieved

28 September 2017

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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28 September 2017

Molecular genetics of Leber congenital amaurosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

retrieved

28 September 2017

Improved splice site detection in Genie

1 reference

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PubMed Central

reference URL

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30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559533

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28 November 2018

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16909394

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/507318

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

396536

OpenCitations bibliographic resource ID

396536

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

396536

PMC publication ID

1559533

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

396536

PubMed publication ID

16909394

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

396536

ResearchGate publication ID

6878926

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