European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

by Claire L. Shovlin, Elisabetta Buscarini, Anette D. Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod
Published 2018-08-01

Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT)...

by Marga J. Bouma, Valeria Orlova, Francijna E. van den Hil, Hans-Jurgen Mager, Frank Baas, Peter de Knijff, Christine L. Mummery, Harald Mikkers, Christian Freund
Published 2020-07-01

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

by Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod, Claire L. Shovlin, on behalf of VASCERN-HHT
Published 2019-02-01

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

by Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager, Guido Manfredi, Troels H. Nielsen, Fabio Pagella, Marco C. Post, Catherine Rennie, Carlo Sabbà, Patrizia Suppressa, Pernille M. Toerring, Sara Ugolini, Elisabetta Buscarini, Sophie Dupuis-Girod, Claire L. Shovlin
Published 2020-06-01