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

10

Han G Brunner

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Robert Koenekoop

2

Robert K Koenekoop

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Frans P M Cremers

14

Frans P M Cremers

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Anneke den Hollander

1

Anneke I den Hollander

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author name string

Suzanne Yzer

3

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Irma Lopez

4

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Maarten L Arends

5

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Krysta E J Voesenek

6

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Marijke N Zonneveld

7

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Tim M Strom

8

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Carel B Hoyng

11

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L Ingeborgh van den Born

12

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Klaus Rohrschneider

American Journal of Human Genetics

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

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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

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

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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Predictive identification of exonic splicing enhancers in human genes

7 April 2017

1 reference

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Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

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

7 April 2017

1 reference

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

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

28 September 2017

1 reference

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

Molecular genetics of Leber congenital amaurosis

28 September 2017

1 reference

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Improved splice site detection in Genie

28 September 2017

1 reference

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

30 May 2018

1 reference

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

Mutational analysis and clinical correlation in Leber congenital amaurosis

28 November 2018

1 reference

PubMed

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/507318

1 reference

1 reference

1 reference

PubMed publication ID

16909394

1 reference