Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing. (Q41608906)

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scientific article published on 8 January 2015

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English	Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.	scientific article published on 8 January 2015

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Xiu-Feng Huang

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Juan Wu

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Ji-Neng Lv

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Xiao Zhang

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

0 references

publication date

8 January 2015

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

307-311

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

describes a project that uses

massive parallel sequencing

1 reference

based on heuristic

inferred from title

Retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Exome sequencing: the expert view

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

A novel RPGR mutation masquerading as Stargardt disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

New approaches to molecular diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.193

21 January 2018

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25569437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SLC7A14 linked to autosomal recessive retinitis pigmentosa.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25569437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25569437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2014.193

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25569437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

ResearchGate publication ID

0 references

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