A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection (Q26744537)

21 June 2017

1 reference

20 February 2023

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection. (English)

1 reference

21 June 2017

thoracic aortic aneurysm

1 reference

19 November 2020

1 reference

19 November 2020

1 reference

1 reference

Rosina De Cario

4

0 references

Elena Sticchi

Elena Sticchi

3

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Stefano Nistri

Stefano Nistri

2

0 references

Betti Giusti

Betti Giusti

1

0 references

Gian Franco Gensini

6

Gian Franco Gensini

1 reference

21 June 2017

Rosanna Abbate

5

1 reference

21 June 2017

Guglielmina Pepe

7

1 reference

21 June 2017

language of work or name

English

0 references

publication date

25 May 2016

11 references

BioMed Research International

21 June 2017

13 March 2019

14 March 2019

22 March 2019

17 June 2019

22 July 2019

19 September 2019

19 November 2020

29 July 2022

19 February 2023

20 February 2023

11 references

21 June 2017

13 March 2019

14 March 2019

22 March 2019

17 June 2019

22 July 2019

19 September 2019

19 November 2020

29 July 2022

19 February 2023

20 February 2023

2016

1 reference

21 June 2017

9579654

1 reference

Creative Commons Attribution 4.0 International

21 June 2017

10 references

13 March 2019

14 March 2019

22 March 2019

17 June 2019

22 July 2019

19 September 2019

19 November 2020

29 July 2022

19 February 2023

on focus list of Wikimedia project

20 February 2023

copyright status

copyrighted

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ScienceSource

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cites work

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The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

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Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome

28 September 2017

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Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

28 September 2017

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Atenolol versus losartan in children and young adults with Marfan's syndrome

28 September 2017

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Canadian Cardiovascular Society position statement on the management of thoracic aortic disease

28 September 2017

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28 September 2017

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The next-generation sequencing revolution and its impact on genomics

28 September 2017

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Practical genetics of thoracic aortic aneurysm

28 September 2017

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

28 September 2017

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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

28 September 2017

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Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism

28 September 2017

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The clinical spectrum of complete FBN1 allele deletions

28 September 2017

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

28 September 2017

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28 September 2017

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Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial

28 September 2017

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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 September 2017

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28 September 2017

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28 September 2017

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31 May 2018

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Family history, comorbidity and risk of thoracic aortic disease: a population-based case-control study

31 May 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome

21 January 2018

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Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial

21 January 2018

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21 January 2018

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Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

21 January 2018

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Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

21 January 2018

1 reference

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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.

21 January 2018

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Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

21 January 2018

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Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism.

21 January 2018

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Femoral and Carotid Subclinical Atherosclerosis Association With Risk Factors and Coronary Calcium: The AWHS Study.

21 January 2018

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

21 January 2018

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Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

21 January 2018

1 reference

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Aortic dilatation in patients with bicuspid aortic valve

21 January 2018

1 reference

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NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

21 January 2018

1 reference

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Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

21 January 2018

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12 December 2020

Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives

1 reference

12 December 2020

Chronic beta-blocker therapy improves outcome and reduces treatment costs in chronic type B aortic dissection

1 reference

12 December 2020

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

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12 December 2020

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

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12 December 2020

Statins are associated with decreased mortality in abdominal, but not in thoracic aortic aneurysm patients undergoing endovascular repair: propensity score-adjusted analysis

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12 December 2020

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

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12 December 2020

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

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12 December 2020

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

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12 December 2020

Efficacy of losartan vs. atenolol for the prevention of aortic dilation in Marfan syndrome: a randomized clinical trial

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12 December 2020

Aortic root measurement by cardiovascular magnetic resonance: specification of planes and lines of measurement and corresponding normal values

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12 December 2020

Identifiers

DOI

10.1155/2016/9579654

1 reference

OpenCitations bibliographic resource ID

21 June 2017

1363980

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference