(Q36695738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Doroteya Raykova

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Adam Ameur

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Elisabet Gustafson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Iveta Tóthová

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Alkwin Wanders

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Niklas Dahl

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

18 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

1679-1683

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.49

3 March 2020

exact match

0 references

cites work

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1 reference

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome

30 September 2017

1 reference

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Presenting your structures: the CCP4mg molecular-graphics software

30 September 2017

1 reference

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30 September 2017

1 reference

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Diagnosis and management of intestinal motility disorders

30 September 2017

1 reference

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Chronic intestinal pseudo-obstruction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Primer3 on the WWW for general users and for biologist programmers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Pathology of neuromuscular disorders of the small intestine and colon

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Familial visceral myopathy: a family with at least six involved members

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

A case of familial visceral myopathy with atrophy and fibrosis of the longitudinal muscle layer of the entire small bowel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Improved splice site detection in Genie

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Patterns and mutational signatures of tandem base substitutions causing human inherited disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

Unusual variations of gastrointestinal smooth muscle abnormalities associated with chronic intestinal pseudo-obstruction

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795199

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.49

A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.49

Familial hollow visceral myopathy with varying urological manifestations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Iris flocculi and familial aortic dissection

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782675%20AND%20SRC:MED&resulttype=core&format=json