(Q24657923)

1

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Hariyadarshi Pannu

2

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Van Tran-Fadulu

3

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Stacey A Carter

4

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Dianna M Milewicz

Nature Clinical Practice Cardiovascular Medicine

6

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language of work or name

English

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publication date

March 2007

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published in

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volume

4

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issue

3

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page(s)

167-71

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cites work

Treatment of aortic disease in patients with Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

Heterozygous TGFBR2 mutations in Marfan syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

Revised diagnostic criteria for the Marfan syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

New Marfanoid syndrome with craniosynostosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCPCARDIO0797

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561071

The question of heterogeneity in Marfan syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17330129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Revised diagnostic criteria for the Marfan syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCPCARDIO0797