Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="CHILD, A" or (type exact bookEditor and editor="CHILD, A")

Add to list
The new Ghent criteria for Marfan syndrome: what do they change ?

L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, Bert Callewaert (UGent) , Bart Loeys (UGent) , C Binquet, E Gautier, K Mayer, et al.

(2012) CLINICAL GENETICS. 81(5). p.433-442
Add to list
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

L Faivre, G Collod-Beroud, Bert Callewaert (UGent) , A Child, Bart Loeys (UGent) , C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, et al.

(2009) American Journal of Medical Genetics Part A. 149A(5). p.854-860
Add to list
- Journal Article
- A1
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Laurence Faivre, G Collod-Beroud, Bert Callewaert (UGent) , A Child, C Binquet, E Gautier, Bart Loeys (UGent) , E Arbustini, K Mayer, M Arslan-Kirchner, et al.

(2009) European Journal of Human Genetics. 17(4). p.491-501
Add to list
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

L Faivre, G Collod-Beroud, A Child, Bert Callewaert (UGent) , Bart Loeys (UGent) , C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, et al.

(2008) JOURNAL OF MEDICAL GENETICS. 45(6). p.384-390
Add to list
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

L Faivre, G Collod-Beroud, Bart Loeys (UGent) , A Child, C Binquet, E Gautier, Bert Callewaert (UGent) , E Arbustini, K Mayer, M Arslan-Kirchner, et al.

(2007) AMERICAN JOURNAL OF HUMAN GENETICS. 81(3). p.454-466
Add to list
- Journal Article
- A1
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database

G COLLOD-BEROUD, S LE BOURDELLES, L ADES, L ALA-KOKKO, P BOOMS, M BOXER, A CHILD, P COMEGLIO, Anne De Paepe (UGent) , JC HYLAND, et al.

(2003) HUMAN MUTATION. 22(3). p.199-208

Academic Bibliography

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

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

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

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

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

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

Contents

Support

Contact