(Q56988733)

English

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

scientific article published on 01 May 2009

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scholarly article

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25 January 2020

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 (English)

1 reference

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25 January 2020

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Marfan syndrome

1 reference

based on heuristic

inferred from title

Gwenaëlle Collod-Béroud

2

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25 January 2020

Bert Callewaert

3

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25 January 2020

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25 January 2020

Eloisa Arbustini

8

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25 January 2020

Christophe Beroud

14

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25 January 2020

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25 January 2020

Catherine Boileau

26

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25 January 2020

author name string

L Faivre

1

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25 January 2020

A Child

4

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25 January 2020

C Binquet

6

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E Gautier

7

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K Mayer

9

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25 January 2020

M Arslan-Kirchner

10

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25 January 2020

A Kiotsekoglou

11

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P Comeglio

12

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M Grasso

13

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25 January 2020

C Bonithon-Kopp

15

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25 January 2020

M Claustres

16

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C Stheneur

17

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25 January 2020

O Bouchot

18

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25 January 2020

J E Wolf

19

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25 January 2020

L Adès

21

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25 January 2020

J De Backer

22

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P Coucke

23

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U Francke

24

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A De Paepe

25

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G Jondeau

27

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1 May 2009

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25 January 2020

American Journal of Medical Genetics

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25 January 2020

149A

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25 January 2020

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854-860

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25 January 2020

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32809

21 January 2018

A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32809

21 January 2018

Identifiers

10.1002/AJMG.A.32809

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25 January 2020

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25 January 2020

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