(Q36482104)

English

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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Stargardt disease

1 reference

based on heuristic

inferred from title

author name string

Rosa Riveiro-Alvarez

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Elena Vallespin

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Robert Wilke

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Blanca Garcia-Sandoval

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Diego Cantalapiedra

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Jana Aguirre-Lamban

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Almudena Avila-Fernandez

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Ascension Gimenez

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Maria-Jose Trujillo-Tiebas

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Carmen Ayuso

10

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

publication date

4 February 2008

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Molecular Vision

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

14

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

262-267

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

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=2258218

30 September 2017

Mutations in the CRB1 gene 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=2258218

30 September 2017

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2258218

21 September 2018

Stargardt's disease and retinitis pigmentosa: different phenotypic presentations in the same family

1 reference

https://pubmed.ncbi.nlm.nih.gov/18334942

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18334942

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/18334942

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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