(Q24531671)

English

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

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scholarly article

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

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congenital disorder

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Leber congenital amaurosis

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author name string

A I den Hollander

1

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J R Heckenlively

2

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L I van den Born

3

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Y J de Kok

4

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S D van der Velde-Visser

5

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U Kellner

6

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B Jurklies

7

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M J van Schooneveld

8

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A Blankenagel

9

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K Rohrschneider

10

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B Wissinger

11

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J R Cruysberg

12

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A F Deutman

13

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H G Brunner

14

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E Apfelstedt-Sylla

15

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C B Hoyng

16

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F P Cremers

17

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language of work or name

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publication date

July 2001

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American Journal of Human Genetics

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69

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198-203

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1

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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=1226034

24 March 2017

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=1226034

24 March 2017

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

24 March 2017

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=1226034

24 March 2017

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=1226034

24 March 2017

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

24 March 2017

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

24 March 2017

Mutation analysis of 3 genes 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=1226034

24 March 2017

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=1226034

24 March 2017

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=1226034

24 March 2017

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=1226034

24 March 2017

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=1226034

24 March 2017

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

27 September 2017

Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

27 September 2017

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=1226034

27 September 2017

Coats'-type retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

27 September 2017

Spectrum of retGC1 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=1226034

30 May 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=1226034

30 May 2018

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226034

29 November 2018

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389483

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/11389483

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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