(Q35078201)

English

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

6 August 2017

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients (English)

1 reference

Europe PubMed Central

6 August 2017

0 references

6

object named as

Anne De Paepe

0 references

Julie De Backer

object named as

Julie De Backer

8

0 references

Bert Callewaert

object named as

Bert Callewaert

2

0 references

author name string

Laurence Campens

1

1 reference

Europe PubMed Central

6 August 2017

Laura Muiño Mosquera

3

1 reference

Europe PubMed Central

6 August 2017

Marjolijn Renard

4

1 reference

Europe PubMed Central

6 August 2017

Sofie Symoens

5

1 reference

Europe PubMed Central

6 August 2017

Paul Coucke

7

1 reference

Europe PubMed Central

6 August 2017

publication date

3 February 2015

1 reference

Europe PubMed Central

6 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

6 August 2017

10

1 reference

Europe PubMed Central

6 August 2017

9

1 reference

Europe PubMed Central

6 August 2017

copyright license

Creative Commons Attribution 4.0 International

1 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s13023-014-0221-6

0 references

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Heritable thoracic aortic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Correlates of delayed recognition and treatment of acute type A aortic dissection: the International Registry of Acute Aortic Dissection (IRAD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

The revised Ghent nosology for the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Thoracic aortic aneurysm and dissection: increasing prevalence and improved outcomes reported in a nationwide population-based study of more than 14,000 cases from 1987 to 2002.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Cardiovascular diseases in women: a statement from the policy conference of the European Society of Cardiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Deaths: final data for 1999.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

Gender differences in abdominal aortic aneurysm prevalence, treatment, and outcome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

8 July 2018

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the Eur

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326194

27 September 2018

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0221-6

21 January 2018

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0221-6

21 January 2018

Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25644172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-014-0221-6

1 reference

Europe PubMed Central

6 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35078201&oldid=1971853769"