(Q35800472)

10 August 2017

CRB1 mutations in inherited retinal dystrophies (English)

1 reference

10 August 2017

1

Kinga Bujakowska

1 reference

10 August 2017

Christine Lonjou

10

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Christina Zeitz

object named as

Christina Zeitz

14

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José-Alain Sahel

object named as

José-Alain Sahel

12

0 references

Marie-Elise Lancelot

4

object named as

Marie-Elise Lancelot

1 reference

10 August 2017

7

Thierry Léveillard

1 reference

10 August 2017

6

Aurore Germain

1 reference

10 August 2017

3

Saddek Mohand-Saïd

1 reference

10 August 2017

8

Mélanie Letexier

1 reference

10 August 2017

5

Aline Antonio

1 reference

10 August 2017

2

Isabelle Audo

1 reference

10 August 2017

Jean-Paul Saraiva

9

1 reference

10 August 2017

Wassila Carpentier

11

1 reference

10 August 2017

Shomi S Bhattacharya

13

1 reference

10 August 2017

27 December 2011

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10 August 2017

1 reference

10 August 2017

33

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10 August 2017

2

1 reference

10 August 2017

306-315

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

A method and server for predicting damaging missense mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

EYS is a major gene for rod-cone dystrophies in France.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

HomozygosityMapper--an interactive approach to homozygosity mapping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Molecular characterization of Leber congenital amaurosis in Koreans.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Leber congenital amaurosis: genes, proteins and disease mechanisms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Composition and function of the Crumbs protein complex in the mammalian retina

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

The nonsense-mediated decay RNA surveillance pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

CRB1 mutation spectrum in inherited retinal dystrophies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

SIFT: Predicting amino acid changes that affect protein function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Mutation screening of Pakistani families with congenital eye disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Mutations in the CRB1 gene cause Leber congenital amaurosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

11 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

Evaluation of genotype-phenotype associations in leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

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/10.1002%2FHUMU.21653

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3293109

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

25 September 2018

1 reference

12 December 2020

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis

1 reference

12 December 2020

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

1 reference

12 December 2020

Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis

1 reference

12 December 2020

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Ueber Retinitis pigmentosa und angeborene Amaurose

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21653

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.21653

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22065545

1 reference