BELGIUM
Center for Medical Genetics
Ghent University
Hospital
De Pintelaan
185
Ghent
Belgium
9000
Prof. Anne De Paepe
anne.depaepe@ugent.be
Project title: Unravelling the molecular
-genetic basis of hereditary disorders of elastin (Cutis
Laxa)
Project title: Unravelling the molecular
-genetic basis of hereditary disorders of elastin
(Pseudoxanthoma Elasticum)
Project title: Integration of the clinical, ultrastructural, biochemical
and molecular-genetic findings in the Ehlers-Danlos syndrome
and related phenotypes
FRANCE
Dermatologic Diseases
Centre National de Génotypage
2
rue Gaston Crémieux
91057 Evry
France
Prof. Mark
Lathrop
Dr. Judith Fischer
fischer@cng.fr
Research activities on: Cutis laxa,
hereditary
Elastogenesis and metabolism
Institut de
Transgénose
3B rue de la Férollerie
F-45071
Orléans
Cedex 2
France
Dr. Marc Le Bert
Dr.
Ludovic Martin
lebert@cnrs-orleans.fr
Project title: Generation and phenotype
characterization of two putative models of PXE
Institute of Biology and Chemistry of Proteins
Centre
National de la Recherche Scientifique (CNRS) - University Lyon
1
7 passge du vercors
Lyon
France
69 230
Dr.
Pascal Sommer
p.sommer@ibcp.fr
Research activities on: Cutis laxa,
hereditary
GERMANY
Center for Human Genetics and Laboratory
Medicine
Lochhamer Str. 29
D-82152
Martinsried
Germany
Dr. Hanns-Georg Klein
Dr. Karin
Mayer
Karin.Mayer@medizinische-genetik.de
Project title: Improvement of the molecular
diagnostics in EDS Type I/II by screening further collagen and
collagen modifying genes
Project title: Improvement
of the molecular diagnostics in EDS Type III by biochemical
and molecular genetic testing of TenascinX and screening
further collagen and collagen modifying genes
Physiological Psychology
Bielefeld
University
Postfach 10 01 31
33501
Bielefeld
Germany
Prof. Hans J. Markowitsch
hans.markowitsch@uni-bielefeld.de
Project title: Emotion, cognition and functional
imaging in patients with Urbach-Wiethe disease (Lipoid
proteinosis)
HUNGARY
Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Antal Blazsek
blazsek@bor.sote.hu
Project title: Genotype-phenotype correlation
analysis in Hungarian cases of genodermatoses (Pseudoxanthoma
elasticum)
Project title: Improving methodics of mutation analysis
and prenatal diagnostics in genodermatoses (Pseudoxanthoma
elasticum)
ITALY
Department of Biomedical Sciences
University of Modena
and Reggio Emilia
Via Campi
287
Modena
Italy
41100
Prof. Ivonne Pasquali
Ronchetti
ronchetti.ivonne@unimore.it
Research activities on: pathogenesis of elastic
fiber calcification in PXE
Department of Biomedical Sciences and Biotechnology,
Division of Biology and Genetics
University of
Brescia
Via Europa 11
25123 Brescia
Italy
Prof.
Sergio Barlati
Prof. Marina Colombi
colombi@med.unibs.it
Project title: Identification of cellular
markers for arthrochalasic Ehlers-Danlos syndrome skin
fibroblasts
Project title: Identification of
cellular markers for classic Ehlers-Danlos syndrome skin
fibroblasts
Project title: Identification of
cellular markers for dermatosparaxis Ehlers-Danlos syndrome
skin fibroblasts
Project title: Identification of
cellular markers for hypermobile Ehlers-Danlos syndrome skin
fibroblasts
Project title: Identification of
cellular markers for kyphoscoliotic Ehlers-Danlos syndrome
skin fibroblasts
Project title: Identification of
cellular markers for unclassified variants of Ehlers-Danlos
syndrome skin fibroblasts
Project title: Identification of cellular markers for unclassified variants
of Ehlers-Danlos syndrome skin fibroblasts
Project
title: Clinical and molecular characterization of Italian
patients affected with vascular Ehlers-Danlos
syndrome
UNITED KINGDOM
Genetic Skin Disease Group
St John's Institute of
Dermatology - St Thomas' Hospital
Division of Genetics and
Molecular Medicine
Lambeth Palace Road
London SE1
7EH
England
Prof. John McGrath
john.mcgrath@kcl.ac.uk
Research activities on: Lipoid
proteinosis |
