(Q33715060)

28 July 2017

title

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus (English)

1 reference

28 July 2017

Ali R Keramati

1

1 reference

28 July 2017

Anita Sadeghpour

2

1 reference

28 July 2017

Maryam M Farahani

3

1 reference

28 July 2017

Gurangad Chandok

4

1 reference

28 July 2017

Arya Mani

5

1 reference

28 July 2017

publication date

11 October 2010

1 reference

28 July 2017

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28 July 2017

volume

11

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28 July 2017

page(s)

143

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-143

28 July 2017

exact match

0 references

cites work

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

Aneurysm syndromes caused by mutations in the TGF-beta receptor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

Familial patterns of thoracic aortic aneurysms.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2958900

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.

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-143

Epidemiology and clinicopathology of aortic dissection

21 January 2018

1 reference

12 December 2020

Life Expectancy and Causes of Death in the Marfan Syndrome

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial thoracic aortic dilatations and dissections: a case control study

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-11-143

1 reference

Dimensions Publication ID

28 July 2017

0 references

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28 July 2017

1 reference