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) (Q87805859)

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scientific article published on 02 April 2014

Language	Label	Description	Also known as
English	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)	scientific article published on 02 April 2014

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scholarly article

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17 March 2020

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) (English)

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17 March 2020

Loeys-Dietz syndrome

1 reference

based on heuristic

inferred from title

Marfan syndrome

1 reference

based on heuristic

inferred from title

Saud H Aldubayan

2

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17 March 2020

author name string

Jordan P Lerner-Ellis

1

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17 March 2020

Amy Lovelette Hernandez

3

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17 March 2020

Melissa Allard Kelly

4

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17 March 2020

Aaron J Stuenkel

5

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17 March 2020

Jennifer Walsh

6

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17 March 2020

Victoria A Joshi

7

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publication date

2 April 2014

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17 March 2020

Molecular Genetics and Metabolism

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112

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17 March 2020

2

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17 March 2020

171-176

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17 March 2020

Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Aortic complications of Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

The revised Ghent nosology for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Familial aortic dissecting aneurysm

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

The new Ghent criteria for Marfan syndrome: what do they change?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

TGF beta signaling in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

The Loeys-Dietz syndrome: an update for the clinician

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.011

7 January 2021

Identifiers

10.1016/J.YMGME.2014.03.011

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793577%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24793577%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

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