(Q37569558)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

0 references

1 reference

title

Missed threads. The impact of pre-mRNA splicing defects on clinical practice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Diana Baralle

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Anneke Lucassen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

Diana Baralle

1

1 reference

21 August 2017

Anneke Lucassen

2

1 reference

21 August 2017

1 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

810-816

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

Alternative splicing and disease

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Frame that gene. A tool for analysing and classifying the communication of genetics to the public

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Substances that can change alternative splice-site selection

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Splicing in disease: disruption of the splicing code and the decoding machinery

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Modulating the expression of disease genes with RNA-based therapy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Use of minigene systems to dissect alternative splicing elements

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Making antisense of splicing.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Splicing in action: assessing disease causing sequence changes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Influence of RNA secondary structure on the pre-mRNA splicing process

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Genomic variants in exons and introns: identifying the splicing spoilers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Mechanisms of alternative pre-messenger RNA splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Listening to silence and understanding nonsense: exonic mutations that affect splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Computational methods for RNA structure determination

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Expression of a human alpha-globin/fibronectin gene hybrid generates two mRNAs by alternative splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Rapid generation of splicing reporters with pSpliceExpress

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Analyzing mechanisms of alternative pre-mRNA splicing using in vitro splicing assays.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726684

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEMBOR.2009.170

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19648957

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

VARIATION, DATABASES, and DISEASE: new directions for human mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19648957

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EMBOR.2009.170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19648957%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference