This thesis is dedicated to my grandparents

5/ O.M. Vanakker, L. Martin, D. Gheduzzi, B.P. Leroy, B. Loeys, P.J. Coucke, I. Pasquali-
Ronchetti, A. De Paepe. Pseudoxanthoma elasticum-like disorder with generalized cutis laxa and
clotting deficiency represents a novel genetic entity. Annual meeting of the European Society of
Human Genetics, Amsterdam, the Netherlands, May 6-9 th 2006
6/ B. Callewaert, B. Albrecht, B. Loeys, G. Gillessen-Kaesbach, I. Hausser, O. Vanakker, P.J.
Coucke, Z. Urban, A. De Paepe. Two novel mutations in the ELN gene in patients with autosomal
dominant cutis laxa and systemic manifestations. Annual meeting of the European Society of
Human Genetics, Amsterdam, the Netherlands, May 6-9 th 2006
7/ B. Callewaert, B. Albrecht, B. Loeys, G. Gillessen-Kaesbach, I. Hausser, O. Vanakker, P.J.
Coucke, Z. Urban, A. De Paepe. Two novel mutations in the ELN gene in patients with autosomal
dominant cutis laxa and systemic manifestations. 34 th annual meeting of the Belgian Society of
Paediatrics, Brugge, March 17-18 th 2006
8/ O.M. Vanakker, L. Martin, D. Gheduzzi, B.P. Leroy, B. Loeys, P.J. Coucke, I. Pasquali-
Ronchetti, A. De Paepe. Pseudoxanthoma elasticum-like disorder with generalized cutis laxa and
clotting deficiency represents a novel genetic entity. Annual meeting of the Department of Internal
Medicine, Ghent University Hospital, Ghent, March 30 th 2006
9/ I.S. Audo, O.M. Vanakker, B.P. Leroy, A.G. Robson, P.J. Coucke, A.C. Bird, A. De Paepe,
G.E. Holder, A.R. Webster. Pseudoxanthoma elasticum with generalized retinal dysfunction: a
common finding? Annual meeting of the Association for Reserach in Vision and Ophthalmology
(ARVO), May 4 th 2006
10/ O.M. Vanakker, L. Martin, D. Gheduzzi, B.P. Leroy, B. Loeys, P.J. Coucke, I. Pasquali-
Ronchetti, A. De Paepe. Pseudoxanthoma elasticum-like disorder with generalized cutis laxa and
clotting deficiency represents a novel genetic entity. Elastin Meeting 2006, Grenoble, France, July
9-12 th 2006
11/ Gheduzzi D, Annovi G, Vanakker OM, Martin L, Leroy BP, Loeys B, Matthys D, Coucke PJ,
Schurgers L, de Paepe A, Pasquali-Ronchetti I. Elastic fiber calcification and pseudoxanthoma
elasticulm-like phenotype in patients with vitamin K-dependent deficiency of coagulation factors.
Elastin Meeting 2006, Grenoble, France, July 9-12 th 2006
12/ O.M. Vanakker, L. Martin, D. Gheduzzi, B.P. Leroy, B. Loeys, P.J. Coucke, S.F. Terry,L.J.
Schurgers, C. Vermeer, I. Pasquali-Ronchetti, A. De Paepe. Mutations in the gamma-carboxylase
gene GGCX cause a novel pseudoxanthoma elasticum-like disorder. Annual meeting of the
Department of Internal Medicine, Ghent University Hospital, Ghent, March 14 th 2007
13/ O.M. Vanakker, L. Martin, D. Gheduzzi, B.P. Leroy, B. Loeys, P.J. Coucke, S.F. Terry,L.J.
Schurgers, C. Vermeer, I. Pasquali-Ronchetti, A. De Paepe. Mutations in the gamma-carboxylase
gene GGCX cause a novel pseudoxanthoma elasticum-like disorder. Annual meeting of the
European Society of Human Genetics, Vienna, Austria, June 16-19 th 2007
218