(Q54441066)

29 May 2018

title

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

1 reference

29 May 2018

1 reference

Mustafa Tekin

8

0 references

author name string

Willa Thorson

1

1 reference

29 May 2018

Oscar Diaz-Horta

2

1 reference

29 May 2018

Joseph Foster

3

1 reference

29 May 2018

Michail Spiliopoulos

4

1 reference

29 May 2018

Rubén Quintero

5

1 reference

29 May 2018

Amjad Farooq

6

1 reference

29 May 2018

Susan Blanton

7

1 reference

29 May 2018

publication date

13 December 2013

1 reference

29 May 2018

published in

Human Genetics

1 reference

29 May 2018

volume

133

1 reference

29 May 2018

issue

6

1 reference

29 May 2018

page(s)

737-742

1 reference

29 May 2018

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

cites work

1 reference

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

21 January 2018

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21 January 2018

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Fetal therapy for obstructive uropathy: past, present.future?

21 January 2018

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Involvement of CTGF in TGF-beta1-stimulation of myofibroblast differentiation and collagen matrix contraction in the presence of mechanical stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

Transforming growth factor beta stimulates fibroblast-collagen matrix contraction by different mechanisms in mechanically loaded and unloaded matrices.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

Comparative protein structure modeling of genes and genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

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

21 January 2018

1 reference

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The crystal structure of uncomplexed actin in the ADP state

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

Abnormalities of the fetal bladder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1406-0

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24337657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24337657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Megacystis microcolon intestinal hypoperistalsis syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24337657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-013-1406-0

1 reference

29 May 2018

1 reference

29 May 2018