(Q30421160)

16 August 2017

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus (English)

1 reference

16 August 2017

patent ductus arteriosus

1 reference

17

0 references

Edwin Cuppen

18

0 references

Xavier Jeunemaitre

16

object named as

Xavier Jeunemaitre

1 reference

16 August 2017

Isaac J Nijman

6

0 references

Gerard Pals

object named as

Gerard Pals

14

0 references

author name string

Magdalena Harakalova

1

1 reference

16 August 2017

Jasper van der Smagt

2

1 reference

16 August 2017

Carolien G F de Kovel

3

1 reference

16 August 2017

Ruben Van't Slot

4

1 reference

16 August 2017

Martin Poot

5

1 reference

16 August 2017

Jelena Medic

7

1 reference

16 August 2017

Irene Joziasse

8

1 reference

16 August 2017

Jaap Deckers

9

1 reference

16 August 2017

Jolien W Roos-Hesselink

10

1 reference

16 August 2017

Marja W Wessels

11

1 reference

16 August 2017

Hubert F Baars

12

1 reference

16 August 2017

Marjan M Weiss

13

1 reference

16 August 2017

Lisa Golmard

15

1 reference

16 August 2017

Annette F Baas

19

1 reference

16 August 2017

12 September 2012

1 reference

European Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

21

1 reference

16 August 2017

5

1 reference

16 August 2017

487-493

1 reference

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Lessons on the pathogenesis of aneurysm from heritable conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Mutations in myosin light chain kinase cause familial aortic dissections

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Cellular and molecular mechanisms of thoracic aortic aneurysms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Etiology, pathogenesis and management of thoracic aortic aneurysm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Guidelines for molecular karyotyping in constitutional genetic diagnosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Pathogenesis of thoracic and abdominal aortic aneurysms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Diagnosis and treatment of diseases of the aorta

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Echocardiographic assessment of aortic root dimensions in normal children based on measurement of a new ratio of aortic size independent of growth

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641382

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.206

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.206

Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Patent ductus arteriosus in patients more than 50 years old

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.206

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

22968129

1 reference