Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (Q34328447)

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English	Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.	scientific article

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19584904%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19584904%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

congenital disorder

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7

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2 February 2020

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Esther Pomares

1

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2 February 2020

Marina Riera

2

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2 February 2020

Jon Permanyer

3

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2 February 2020

Pilar Méndez

4

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2 February 2020

Joaquín Castro-Navarro

5

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2 February 2020

Angeles Andrés-Gutiérrez

6

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2 February 2020

Roser Gonzàlez-Duarte

8

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2 February 2020

publication date

1 January 2010

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2 February 2020

European Journal of Human Genetics

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2 February 2020

18

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2 February 2020

1

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2 February 2020

118-124

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2 February 2020

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Retinitis pigmentosa: genes, proteins and prospects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987167

6 July 2018

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19584904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/19584904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recommended standards for electroretinograms and visual evoked potentials. Report of an IFCN committee

1 reference

https://pubmed.ncbi.nlm.nih.gov/19584904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19584904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2009.114

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19584904%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19584904%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19584904%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

ResearchGate publication ID

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