(Q45084264)

9 December 2017

title

Cardiovascular manifestations in men and women carrying a FBN1 mutation (English)

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9 December 2017

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5

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8

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17

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19

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9 December 2017

Gwenaëlle Collod-Béroud

Gwenaelle Collod-Beroud

3

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Christophe Beroud

Christophe Beroud

13

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Catherine Boileau

Catherine Boileau

23

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Mireille Claustres

Mireille Claustres

15

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9 December 2017

12

Dorothy Halliday

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9 December 2017

14

Claire Bonithon-Kopp

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9 December 2017

Delphine Détaint

1

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9 December 2017

Laurence Faivre

2

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9 December 2017

Anne H Child

4

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9 December 2017

Christine Binquet

6

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9 December 2017

Elodie Gautier

7

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9 December 2017

Karin Mayer

9

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9 December 2017

Mine Arslan-Kirchner

10

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9 December 2017

Chantal Stheneur

11

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9 December 2017

Henri Plauchu

16

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9 December 2017

Anatoli Kiotsekoglou

18

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9 December 2017

Lesley Adès

20

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9 December 2017

Uta Francke

21

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9 December 2017

Anne De Paepe

22

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9 December 2017

Guillaume Jondeau

24

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9 December 2017

publication date

13 August 2010

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9 December 2017

published in

European Heart Journal

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9 December 2017

volume

31

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9 December 2017

issue

18

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9 December 2017

page(s)

2223-2229

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

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Aortic root asymmetry in marfan patients; evaluation by magnetic resonance imaging and comparison with standard echocardiography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Determinants of echocardiographic aortic root size. The Framingham Heart Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Gender differences in rat aortic smooth muscle cell matrix metalloproteinase-9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Gender differences in experimental aortic aneurysm formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Mitral valve dimensions and motion in Marfan patients with and without mitral valve prolapse. Comparison to primary mitral valve prolapse and normal subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing procedures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Aortic valve preservation in patients with aortic root aneurysm: results of the reimplantation technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

International nosology of heritable disorders of connective tissue, Berlin, 1986

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHQ258

21 January 2018

Identifiers

DOI

10.1093/EURHEARTJ/EHQ258

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release_6mx7bnedbzfdllh5j22qjbrh7q

9 December 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6mx7bnedbzfdllh5j22qjbrh7q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference