(Q34544487)

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Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

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2 August 2017

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype (English)

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2 August 2017

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Alejandro Estrada Cuzcano

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Alejandro Estrada-Cuzcano

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Xia Wang

8

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Francesco Testa

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Francesco Testa

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Josseline Kaplan

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Josseline Kaplan

34

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Isabelle Perrault

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Isabelle Perrault

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Francesca Simonelli

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Francesca Simonelli

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Susanne Kohl

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Sandro Banfi

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Jean-michel Rozet

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Jean-Michel Rozet

35

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Robert Koenekoop

29

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Robert K Koenekoop

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Bernd Wissinger

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Bernd Wissinger

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2 August 2017

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Irma Lopez

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Shiqiang Li

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Renate Zekveld-Vroon

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Esther Pomares

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Jean Andorf

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Nisrine Aboussair

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Nathalie Delphin

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Anneke I den Hollander

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Catherine Edelson

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Ralph Florijn

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Marc Jean-Pierre

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Corinne Leowski

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2 August 2017

Andre Megarbane

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Cristina Villanueva

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2 August 2017

Blanca Flores

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Huanan Ren

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Ditta Zobor

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Arthur Bergen

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Rui Chen

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Frans P M Cremers

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Roser Gonzalez-Duarte

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Edwin Stone

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Qingjiong Zhang

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2 August 2017

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7 January 2013

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1

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2 August 2017

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Creative Commons Attribution 4.0 International

7 January 2013

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April 2022 Public Data File from Crossref

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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=3538699

7 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=3538699

7 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=3538699

7 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=3538699

7 July 2018

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy

1 reference

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7 July 2018

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

1 reference

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7 July 2018

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

1 reference

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7 July 2018

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

1 reference

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7 July 2018

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

1 reference

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7 July 2018

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

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7 July 2018

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions

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7 July 2018

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

1 reference

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7 July 2018

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

CG dinucleotide clustering is a species-specific property of the genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 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=3538699

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 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=3538699

7 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=3538699

7 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=3538699

7 July 2018

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 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=3538699

7 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=3538699

7 July 2018

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 July 2018

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538699

7 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=3538699

7 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=3538699

7 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=3538699

7 July 2018

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

1 reference

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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=3538699

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

1 reference

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7 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

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

1 reference

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Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

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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=3538699

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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Leber congenital amaurosis: from darkness to spotlight

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051622

21 January 2018

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051622

21 January 2018

IQCB1 mutations in patients with leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051622

21 January 2018

Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051622

21 January 2018

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051622

21 January 2018

First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation

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27 October 2018

Rod-cone dysplasia in the collie

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https://pubmed.ncbi.nlm.nih.gov/23308101

12 December 2020

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An inherited retinopathy in collies. A light and electron microscopic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23308101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New mouse primary retinal degeneration (rd-3)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23308101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PONE.0051622

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Europe PubMed Central

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2 August 2017

2013PLoSO...851622P

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24 November 2022

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2 August 2017

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