(Q35959734)

11 August 2017

0 references

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome (English)

1 reference

11 August 2017

1 reference

11

Guy A Rouleau

0 references

Julie Gauthier

1

object named as

Julie Gauthier

1 reference

11 August 2017

12

Jacques L Michaud

1 reference

11 August 2017

10

Grant A Mitchell

1 reference

11 August 2017

8

Reda Ouazzani

1 reference

11 August 2017

7

Isabelle Thiffault

1 reference

Bouchra Ouled Amar Bencheikh

11 August 2017

2

object named as

Bouchra Ouled Amar Bencheikh

1 reference

11 August 2017

Fadi F Hamdan

3

1 reference

11 August 2017

Steven M Harrison

4

1 reference

11 August 2017

Linda A Baker

5

1 reference

11 August 2017

Françoise Couture

6

1 reference

11 August 2017

Mark E Samuels

9

1 reference

11 August 2017

Jean-François Soucy

13

1 reference

11 August 2017

language of work or name

1 reference

19 November 2014

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

23

1 reference

11 August 2017

9

1 reference

11 August 2017

1266-1268

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.256

11 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Myosins: tails (and heads) of functional diversity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Smooth-muscle contraction without smooth-muscle myosin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Three-dimensional structure of myosin subfragment-1: a molecular motor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538215

Megacystis-microcolon-intestinal hypoperistalsis syndrome

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25407000

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.256

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

1 reference