(Q84331711)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20513143%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome (English)

1 reference

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4 February 2020

main subject

nasal epithelial cell

1 reference

1 reference

2

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4 February 2020

David Baux

4

1 reference

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4 February 2020

author name string

Christel Vaché

1

1 reference

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4 February 2020

Catherine Blanchet

3

1 reference

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4 February 2020

Lise Larrieu

5

1 reference

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4 February 2020

Valérie Faugère

6

1 reference

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4 February 2020

Michel Mondain

7

1 reference

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4 February 2020

Christian Hamel

8

1 reference

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4 February 2020

Sue Malcolm

9

1 reference

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4 February 2020

Mireille Claustres

10

1 reference

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4 February 2020

Anne-Françoise Roux

11

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4 February 2020

publication date

1 June 2010

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4 February 2020

1 reference

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4 February 2020

volume

31

1 reference

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4 February 2020

issue

6

1 reference

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4 February 2020

page(s)

734-741

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Interactions in the network of Usher syndrome type 1 proteins

4 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Splicing in action: assessing disease causing sequence changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

The changing face of Usher syndrome: clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Use of minigene systems to dissect alternative splicing elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

The challenge of documenting mutation across the genome: the human genome variation society approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Update on Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21255

7 January 2021

Identifiers

DOI

10.1002/HUMU.21255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20513143%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference