Rencontres internationales

sur le Syndrome de Williams et Beuren

Organisées par l’association Autour des Williams

du vendredi 4 avril au dimanche 6 avril 2008

Disneyland® Resort Paris – Marne La Vallée


« Recherches sur le syndrome de Williams :


Avancées récentes et perspectives »





Les Actes –  Proceedings


Version électronique disponible ici :

Electronic version available here:









Le Programme et les documents des présentations orales du vendredi 4 avril



“Genetics of Williams Syndrome – advance in narrowing down the causative genes”
Dr. May Tassabehji – St Mary’s Hospital, Manchester – UK

“Molecular mechanisms of mutations at the Williams syndrome locus and the risk of hypertension”
Prof. Luis A. Perez Jurado – Hospital Universitari Vall d’Hebron, Barcelona – Spain


“The influence of structural rearrangement on gene expression”
Prof. Alexandre Reymond – University of Lausanne – Switzerland


“Identification of a gene causing Infantile Spasms in individuals with Williams-Beuren syndrome and large deletions”
Dr Lucy Osborne – University of Toronto – Canada

Documents disponible ici :




“Phénotype cardiovasculaire du syndrome de Williams”
Dr. Yves Dulac – Hôpital des Enfants Toulouse – France

“Is it possible to control the elastin synthesis in the arterial wall?”
Dr. Marie-Paule Jacob – Hôpital Bichat-Claude Bernard Paris – France

“An animal model for the treatment of the cardiovascular features of Williams syndrome: Eln+/- mice”
Prof. Gilles Faury – Université Joseph Fourier-Grenoble 1 / INSERM U882 / CEA-Grenoble

“Therapeutical approaches of cardiovascular abnormalities of WS”
Dr. Giampiero Bricca – Université Claude Bernard Lyon 1 – France

“Aspects of the Cognitive and Social Profile of Williams Syndrome”
Prof. Ursula Bellugi, National Academy of Sciences, Director of the Laboratory for Cognitive
Neuroscience, La Jolla, USA


“The importance of cross-syndrome studies for understanding Williams syndrome”
Prof. Annette Karmiloff-Smith – School of Psychology, Birkbeck, University of London, UK

Documents disponible ici :

Karmiloff en francais



“Finding your way ; How can we help individuals with Williams syndrome to learn a route ?”
Dr. Emily Farran – University of Reading, UK

Document disponible ici : 



“An in silico model of the role of elastin on geometry and biomechanical properties of artery in Williams Beuren Syndrome”
Dr. Lu Hua – Inserm, CIC201, EPICIM, Lyon – France

Document disponible ici :  



“A “mirror pattern” of structural brain abnormalities in autism and Williams Syndrome”
Dr. Arnaud Cachia – Inserm-CEA-Univ. Paris Sud  Orsay – France


“The development of facial emotion recognition in Williams syndrome : delayed and interrupted”
Dr. Jean-Yves Baudouin – Université de Bourgogne – University of Burgundy, Dijon, France

Documents disponible ici : 

Baudouin présentation





“MRI findings in Williams Syndrome”
Dr. Adriana Sampaio – University of Minho, Braga – Portugal