Ghent University Academic Bibliography

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- 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
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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
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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
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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
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- Miscellaneous
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)

SP ROBERTSON, ZA JENKINS, T MORGAN, L ADES, S AFTIMOS, O BOUTE, T FISKERSTRAND, S GARCIA-MINAUR, A GRIX, A GREEN, et al.

(2006) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 140A(24). p.2840-2840
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Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

A COLIGE, Lieve Nuytinck (UGent) , I HAUSSER, AJ VAN ESSEN, M THIRY, C HERENS, LC ADES, Fransiska Malfait (UGent) , Anne De Paepe (UGent) , P FRANCK, et al.

(2004) JOURNAL OF INVESTIGATIVE DERMATOLOGY. 123(4). p.656-663
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- 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
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- Journal Article
- A1
- open access
Marfan database (third edition) : new mutations and new routines for the software

Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Ades, Cheryl Black, Maureen Boxer, David JH Brocks, Katherine J Holman, Anne De Paepe (UGent) , Uta Francke, Ulrich Grau, et al.

(1998) NUCLEIC ACIDS RESEARCH. 26(1). p.229-233

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Academic Bibliography

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

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

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

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

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

Marfan database (third edition) : new mutations and new routines for the software

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