J
Julie De Backer
Researcher at Ghent University Hospital
Publications - 187
Citations - 14107
Julie De Backer is an academic researcher from Ghent University Hospital. The author has contributed to research in topics: Marfan syndrome & Aortic aneurysm. The author has an hindex of 45, co-authored 170 publications receiving 11173 citations. Previous affiliations of Julie De Backer include Ghent University & Johns Hopkins University School of Medicine.
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Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
TL;DR: A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
Journal ArticleDOI
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart Loeys,Junji Chen,Enid Neptune,Daniel P. Judge,Megan Podowski,Tammy M. Holm,Jennifer Meyers,Carmen C. Leitch,Nicholas Katsanis,Neda A. Sharifi,F Lauren Xu,Loretha Myers,Philip J. Spevak,Duke E. Cameron,Julie De Backer,Jan Hellemans,Yan Chen,Elaine C. Davis,Catherine L. Webb,Wolfram Kress,Paul Coucke,Daniel B. Rifkin,Anne De Paepe,Harry C. Dietz +23 more
TL;DR: These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
Journal ArticleDOI
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart Loeys,Bart Loeys,Ulrike Schwarze,Tammy M. Holm,Bert Callewaert,George H. Thomas,George H. Thomas,Hariyadarshi Pannu,Julie De Backer,Gretchen L. Oswald,Sofie Symoens,Sylvie Manouvrier,Amy E. Roberts,Francesca Faravelli,M. Alba Greco,Reed E. Pyeritz,Dianna M. Milewicz,Paul Coucke,Duke E. Cameron,Alan C. Braverman,Peter H. Byers,Anne De Paepe,Harry C. Dietz,Harry C. Dietz +23 more
TL;DR: An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.
Journal ArticleDOI
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait,Clair A. Francomano,Peter H. Byers,John W. Belmont,Britta Berglund,James H. Black,Lara Bloom,Jessica M Bowen,Angela F. Brady,Nigel Burrows,Marco Castori,Helen Cohen,Marina Colombi,Serwet Demirdas,Julie De Backer,Anne De Paepe,Sylvie Fournel-Gigleux,Michael Frank,Neeti Ghali,Cecilia Giunta,Rodney Grahame,Alan Hakim,Xavier Jeunemaitre,Diana Johnson,Birgit Juul-Kristensen,Ines Kapferer-Seebacher,Hanadi Kazkaz,Tomoki Kosho,Mark E. Lavallee,Howard P. Levy,Roberto Mendoza-Londono,Melanie Pepin,F. Michael Pope,Eyal Reinstein,Leema Robert,Marianne Rohrbach,Lynn Sanders,Glenda Sobey,Tim Van Damme,Anthony Vandersteen,Caroline van Mourik,Nicol C. Voermans,Nigel Wheeldon,Johannes Zschocke,Brad T. Tinkle +44 more
TL;DR: The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
Journal ArticleDOI
2020 ESC Guidelines for the management of adult congenital heart disease.
Helmut Baumgartner,Julie De Backer,Sonya V. Babu-Narayan,Werner Budts,Massimo Chessa,Gerhard-Paul Diller,Bernard Lung,Jolanda Kluin,Irene M. Lang,Folkert J. Meijboom,Philip Moons,Barbara J.M. Mulder,Erwin Oechslin,Jolien W. Roos-Hesselink,Markus Schwerzmann,Lars Søndergaard,Katja Zeppenfeld,Sabine Ernst,Magalie Ladouceur,Victor Aboyans,David Alexander,Ruxandra Christodorescu,Domenico Corrado,Michele D'Alto,Natasja M.S. de Groot,Victoria Delgado,Giovanni Di Salvo,Laura Dos Subira,Andreas Eicken,Donna Fitzsimons,Alexandra Frogoudaki,Michael A. Gatzoulis,Stephane Heymans,Jürgen Hörer,Lucile Houyel,Guillaume Jondeau,Hugo A. Katus,Ulf Landmesser,Basil S. Lewis,Alexander R. Lyon,Christian Mueller,Darren Mylotte,Steffen E. Petersen,Anna Sonia Petronio,Marco Roffi,Raphael Rosenhek,Evgeny Shlyakhto,Iain A. Simpson,Miguel Sousa-Uva,Christian Torp-Pedersen,Rhian M. Touyz,Alexander Van De Bruaene,Bernard Iung +52 more
TL;DR: Praha f Interní kardiologická klinika, Fakultní nemocnice Brno a Centrum komplexní péče o vrozené srdeční vady v dospělosti, Brno