Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (Q60413330)

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scientific article published on 01 May 2007

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English	Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis	scientific article published on 01 May 2007

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

title

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

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

main subject

genotyping

1 reference

based on heuristic

inferred from title

Leber congenital amaurosis

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author

Gemma Marfany

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

Maria Brion

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

author name string

Esther Pomares

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

Roser Gonzàlez-Duarte

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

Angel Carracedo

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

publication date

1 May 2007

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

published in

Human Mutation

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

volume

28

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

page(s)

511-516

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

cites work

Haploview: analysis and visualization of LD and haplotype maps

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure of haplotype blocks in the human genome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinitis pigmentosa: genes, proteins and prospects

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Light in retinitis pigmentosa

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

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7 January 2021

based on heuristic

inferred from DOI database lookup

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

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7 January 2021

based on heuristic

inferred from DOI database lookup

Variation is the spice of life

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

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7 January 2021

based on heuristic

inferred from DOI database lookup

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

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7 January 2021

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A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Population genetics of three VNTR polymorphisms in two different Spanish populations

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.20479

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.20479

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

PubMed publication ID

17279538

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17279538

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17279538%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 December 2019

 

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