A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description. (Q36120587)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Joakim Klar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Adam Ameur

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Bengt Johansson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

author name string

Eva-Lena Stattin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Karen Sörensen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Bo Carlberg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

publication date

1 September 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

page(s)

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

22 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Observational study of regional aortic size referenced to body size: production of a cardiovascular magnetic resonance nomogram

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

An integrated map of genetic variation from 1,092 human genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Mutations in myosin light chain kinase cause familial aortic dissections

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Design and validation of Segment--freely available software for cardiovascular image analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Primer3Plus, an enhanced web interface to Primer3

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Fibulin-5/DANCE is essential for elastogenesis in vivo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Familial patterns of thoracic aortic aneurysms.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

A formula to estimate the approximate surface area if height and weight be known. 1916.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

The genetics and genomics of thoracic aortic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Assessment of arterial stiffness in hypertension: comparison of oscillometric (Arteriograph), piezoelectronic (Complior) and tonometric (SphygmoCor) techniques.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

MutationTaster2: mutation prediction for the deep-sequencing age.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Effects of aging and body size on proximal and ascending aorta and aortic arch: inner edge-to-inner edge reference values in a large adult population by two-dimensional transthoracic echocardiography.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Mortality in acute type A aortic dissection: validation of the Penn classification

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Contemporary results of surgery in acute type A aortic dissection: The International Registry of Acute Aortic Dissection experience.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5008005

23 September 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-016-0326-Y

Invasive validation of a new oscillometric device (Arteriograph) for measuring augmentation index, central blood pressure and aortic pulse wave velocity

21 January 2018

1 reference

12 December 2020

How does the ascending aorta geometry change when it dissects?

1 reference

12 December 2020

A new oscillometric method for assessment of arterial stiffness: comparison with tonometric and piezo-electronic methods

1 reference

12 December 2020

Comparison of aortic pulse wave velocity measured by three techniques: Complior, SphygmoCor and Arteriograph

1 reference

12 December 2020

1 reference

12 December 2020

10.1186/S12881-016-0326-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27586135%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

PubMed publication ID

27586135

1 reference