(Q24678278)

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Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

M Buraczynska

2

1 reference

Europe PubMed Central

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6 November 2019

L Gieser

3

1 reference

Europe PubMed Central

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6 November 2019

W Wu

4

1 reference

Europe PubMed Central

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6 November 2019

P Forsythe

5

1 reference

Europe PubMed Central

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6 November 2019

M Abrahamson

6

1 reference

Europe PubMed Central

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6 November 2019

S G Jacobson

7

1 reference

Europe PubMed Central

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6 November 2019

P A Sieving

8

1 reference

Europe PubMed Central

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6 November 2019

S Andréasson

9

1 reference

Europe PubMed Central

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6 November 2019

A Swaroop

10

1 reference

Europe PubMed Central

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6 November 2019

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publication date

1 September 1997

1 reference

Europe PubMed Central

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6 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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6 November 2019

61

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6 November 2019

3

1 reference

Europe PubMed Central

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6 November 2019

571-580

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

7 April 2017

Diagnostic issues with inherited retinal and macular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

The 5' and 3' splice sites come together via a three dimensional diffusion mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

28 September 2017

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

30 May 2018

Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715956

30 May 2018

RNA Splice Site Selection: Evidence for a 5′ → 3′ Scanning Model

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A two-step mechanism for 5' and 3' splice-site pairing

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blindness and the X

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1086%2F515523

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326322%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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