B
Bianca M. de Graaf
Researcher at Erasmus University Rotterdam
Publications - 25
Citations - 1939
Bianca M. de Graaf is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Morpholino & Zebrafish. The author has an hindex of 15, co-authored 22 publications receiving 1764 citations. Previous affiliations of Bianca M. de Graaf include Erasmus University Medical Center.
Papers
More filters
Journal ArticleDOI
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M.B.H. van de Laar,Rogier A. Oldenburg,Gerard Pals,Jolien W. Roos-Hesselink,Bianca M. de Graaf,Judith M.A. Verhagen,Yvonne M. Hoedemaekers,Rob Willemsen,Lies-Anne Severijnen,Hanka Venselaar,Gert Vriend,Peter M. T. Pattynama,Margriet Collée,Danielle Majoor-Krakauer,Don Poldermans,Ingrid M.E. Frohn-Mulder,Dimitra Micha,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Sita M A Bierma-Zeinstra,Patrick Willems,Johan M. Kros,Edwin H.G. Oei,Ben A. Oostra,Marja W. Wessels,Aida M. Bertoli-Avella +25 more
TL;DR: The TGF-β pathway is endorsed as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.
Journal ArticleDOI
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
John C. van Swieten,Esther Brusse,Bianca M. de Graaf,Elmar Krieger,Raoul van de Graaf,Inge de Koning,Anneke Maat-Kievit,Peter Leegwater,Dennis Dooijes,Ben A. Oostra,Peter Heutink +10 more
TL;DR: The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia, and a mutation in the fibroblast growth factor 14 gene on chromosome 13q34 is described.
Journal ArticleDOI
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
Ingrid M.B.H. van de Laar,Denise van der Linde,Edwin H.G. Oei,Pieter K. Bos,Johannes H.J.M. Bessems,Sita M A Bierma-Zeinstra,Belle L. van Meer,Gerard Pals,Rogier A. Oldenburg,Jos A. Bekkers,Adriaan Moelker,Bianca M. de Graaf,Gabor Matyas,Ingrid M.E. Frohn-Mulder,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Jan Maarten Cobben,Hennie T. Brüggenwirth,Lut Van Laer,Bart Loeys,Julie De Backer,Paul Coucke,Harry C. Dietz,Patrick Willems,Ben A. Oostra,Anne De Paepe,Jolien W. Roos-Hesselink,Aida M. Bertoli-Avella,Marja W. Wessels +28 more
TL;DR: In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought, and involved mainly aortic aneurysms and dissections.
Journal ArticleDOI
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Aida M. Bertoli-Avella,Elisabeth Gillis,Hiroko Morisaki,Judith M.A. Verhagen,Bianca M. de Graaf,Gerarda van de Beek,Elena M. Gallo,Boudewijn P.T. Kruithof,Hanka Venselaar,Loretha Myers,Steven Laga,Alexander J Doyle,Gretchen L. Oswald,Gert W. A. van Cappellen,Itaru Yamanaka,Robert van der Helm,Berna Beverloo,Annelies de Klein,Luba M. Pardo,Martin Lammens,Christina Evers,Koenraad Devriendt,Michiel Dumoulein,Janneke Timmermans,Hennie T. Brüggenwirth,Frans W. Verheijen,Inez Rodrigus,Gareth Baynam,Marlies Kempers,Johan Saenen,Emeline M. Van Craenenbroeck,Kenji Minatoya,Ritsu Matsukawa,Takuro Tsukube,Noriaki Kubo,Robert M.W. Hofstra,Marie J ose Goumans,Jos A. Bekkers,Jolien W. Roos-Hesselink,Ingrid M.B.H. van de Laar,Harry C. Dietz,Lut Van Laer,Takayuki Morisaki,Marja W. Wessels,Bart Loeys +44 more
TL;DR: In this article, aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture, and investigations of the pathogenic mechanisms invo...
Journal ArticleDOI
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
Sonia M. Rosso,Wouter Kamphorst,Bianca M. de Graaf,Rob Willemsen,Rivka Ravid,Martinus F. Niermeijer,Maria Grazia Spillantini,Peter Heutink,John C. van Swieten +8 more
TL;DR: Pathological examination of the brains of two affected family members showed non-specific neuronal degeneration with dense cytoplasmic ubiquitin-positive inclusions in neurones of the second layer of the frontotemporal cortex and dentate gyrus of the hippocampus, the first report of ubiquitIn-positive, tau-negativeInclusions in an FTD family with significant linkage to chromosome 17q21-22.