(Q49060891)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

The new Ghent criteria for Marfan syndrome: what do they change? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Bert Callewaert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Bart L Loeys

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Peter Robinson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Gwenaëlle Collod-Béroud

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Christophe Beroud

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Catherine Boileau

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

L Faivre

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

L Adès

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

A Child

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

C Binquet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

E Gautier

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

K Mayer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

M Arslan-Kirchner

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

M Grasso

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

D Hamroun

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

C Bonithon-Kopp

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

H Plauchu

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

J De Backer

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

P Coucke

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

U Francke

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

O Bouchot

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

J E Wolf

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

C Stheneur

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

N Hanna

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

D Detaint

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

A De Paepe

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

G Jondeau

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

publication date

2 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

page(s)

433-442

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21564093%20AND%20SRC:MED&resulttype=core&format=json

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

31 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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/10.1111%2FJ.1399-0004.2011.01703.X

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/10.1111%2FJ.1399-0004.2011.01703.X

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

The revised Ghent nosology for the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Heterozygous TGFBR2 mutations in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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/10.1111%2FJ.1399-0004.2011.01703.X

Aneurysm syndromes caused by mutations in the TGF-beta receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Cardiovascular manifestations in men and women carrying a FBN1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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/10.1111%2FJ.1399-0004.2011.01703.X

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01703.X