First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm (Q35829553)

10 August 2017

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm (English)

1 reference

10 August 2017

Koen M van de Luijtgaarden

1

1 reference

10 August 2017

Daphne Heijsman

2

1 reference

10 August 2017

Alessandra Maugeri

3

1 reference

10 August 2017

Marjan M Weiss

4

1 reference

10 August 2017

Hence J M Verhagen

5

1 reference

10 August 2017

Arne IJpma

6

1 reference

10 August 2017

Hennie T Brüggenwirth

7

1 reference

10 August 2017

Danielle Majoor-Krakauer

8

1 reference

10 August 2017

language of work or name

1 reference

28 May 2015

1 reference

10 August 2017

1 reference

10 August 2017

134

1 reference

10 August 2017

8

1 reference

10 August 2017

881-893

1 reference

Creative Commons Attribution 4.0 International

10 August 2017

start time

28 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

11 July 2018

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Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

11 July 2018

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Guidelines for investigating causality of sequence variants in human disease

11 July 2018

1 reference

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The genetics and genomics of thoracic aortic disease

11 July 2018

1 reference

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A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

11 July 2018

1 reference

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Hyperhomocysteinemia during aortic aneurysm, a plausible role of epigenetics

11 July 2018

1 reference

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Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

11 July 2018

1 reference

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

11 July 2018

1 reference

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

11 July 2018

1 reference

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Rare, Nonsynonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11 , R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells

11 July 2018

1 reference

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Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

11 July 2018

1 reference

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

11 July 2018

1 reference

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Management of abdominal aortic aneurysms clinical practice guidelines of the European society for vascular surgery.

11 July 2018

1 reference

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Mutations in myosin light chain kinase cause familial aortic dissections

11 July 2018

1 reference

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Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

11 July 2018

1 reference

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Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

11 July 2018

1 reference

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

11 July 2018

1 reference

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ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm

11 July 2018

1 reference

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

11 July 2018

1 reference

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Candidate gene association studies in abdominal aortic aneurysm disease: a review and meta-analysis.

11 July 2018

1 reference

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Extracellular control of TGFbeta signalling in vascular development and disease

11 July 2018

1 reference

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

11 July 2018

1 reference

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Aneurysm syndromes caused by mutations in the TGF-beta receptor

11 July 2018

1 reference

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Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

11 July 2018

1 reference

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11 July 2018

1 reference

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

11 July 2018

1 reference

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

11 July 2018

1 reference

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The family history method using diagnostic criteria. Reliability and validity

11 July 2018

1 reference

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The Marfan Syndrome: Diagnosis and Management

11 July 2018

1 reference

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

11 July 2018

1 reference

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Lower atherosclerotic burden in familial abdominal aortic aneurysm

27 July 2018

1 reference

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Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

24 September 2018

1 reference

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

24 September 2018

1 reference

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Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

24 September 2018

1 reference

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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

24 September 2018

1 reference

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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495250

The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495250

Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495250

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-015-1567-0

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-015-1567-0

Familial abdominal aortic aneurysms in the Otago region of New Zealand

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-015-1567-0

Methylenetetrahydrofolate reductase mutation in subjects with abdominal aortic aneurysm subdivided for age

21 January 2018

1 reference

12 December 2020

High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm

1 reference

12 December 2020

High levels of homocysteine, lipoprotein (a) and plasminogen activator inhibitor-1 are present in patients with abdominal aortic aneurysm

1 reference

12 December 2020

Familial occurrence of abdominal aortic aneurysm

1 reference

12 December 2020

Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link

1 reference

12 December 2020

Arterial elongation and tortuosity leads to detection of a de novo TGFBR2 mutation in a young patient with complex aortic pathology

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-015-1567-0

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

26017485

1 reference