(Q35112278)

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Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

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Europe PubMed Central

PubMed publication ID

6 August 2017

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations (English)

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Europe PubMed Central

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6 August 2017

congenital disorder

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Leber congenital amaurosis

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based on heuristic

inferred from title

retinitis pigmentosa

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inferred from title

object named as

Lisa Roberts

35

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Irina Golovleva

object named as

Irina Golovleva

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Elfride De Baere

object named as

Elfride de Baere

23

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Donna S. Mackay

object named as

Donna S Mackay

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Robert Koenekoop

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object named as

Robert K Koenekoop

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6 August 2017

Anthony T Moore

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Anthony T Moore

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Bernd Wissinger

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Bernd Wissinger

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Jeroen Klevering

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object named as

B Jeroen Klevering

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L Ingeborgh van den Born

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object named as

L Ingeborgh van den Born

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Anneke den Hollander

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object named as

Anneke I den Hollander

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author name string

Arundhati Dev Borman

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Ruifang Sui

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Eliot L Berson

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Louise A Ocaka

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Alice E Davidson

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John R Heckenlively

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Kari Branham

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Huanan Ren

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Irma Lopez

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Maleeha Maria

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Maleeha Azam

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Arjen Henkes

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Ellen Blokland

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Raheel Qamar

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Andrew R Webster

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Frans P M Cremers

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6 August 2017

[LCA5 Study Group (see acknowledgements for Universities)

21

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Sten Andreasson

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Jean Bennett

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Gerald J Chader

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Wolfgang Berger

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Jacquie Greenberg

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Caroline C W Klaver

30

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6 August 2017

Birgit Lorenz

32

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Markus N Preising

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Raj Ramsear

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Ronald Roepman

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Klaus Rohrschneider

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6 August 2017

publication date

17 September 2013

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6 August 2017

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6 August 2017

34

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11

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6 August 2017

1537-1546

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6 August 2017

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

NMNAT1 mutations cause Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Retinal dysfunction and refractive errors: an electrophysiological study of children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

A novel locus for Leber congenital amaurosis maps to chromosome 6q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Classification of congenital and early onset retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

Retinal dystrophy and macular coloboma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4337959

9 July 2018

IQCB1 mutations in patients with leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

Retinal structure, function, and molecular pathologic features in gyrate atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

Outer retinal tubulation: a novel optical coherence tomography finding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22398

21 January 2018

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23946133

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23946133

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23946133

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22398

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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