User profiles for "author:Julie De Backer"
Julie De BackerVerified email at ugent.be Cited by 26479 |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
LY Sakai, DR Keene, M Renard, J De Backer - Gene, 2016 - Elsevier
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …
Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
Y Von Kodolitsch, J De Backer, H Schüler… - The Application of …, 2015 - Taylor & Francis
Three international nosologies have been proposed for the diagnosis of Marfan syndrome
(MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised …
(MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised …
2020 ESC Guidelines for the management of adult congenital heart disease: the Task Force for the management of adult congenital heart disease of the European …
H Baumgartner, J De Backer… - European heart …, 2021 - academic.oup.com
Force. The finalized document is approved by the CPG for publication in the European Heart
Journal. The Guidelines were developed after careful consideration of the scientific and …
Journal. The Guidelines were developed after careful consideration of the scientific and …
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
BL Loeys, J Chen, ER Neptune, DP Judge… - Nature …, 2005 - nature.com
We report heterozygous mutations in the genes encoding either type I or type II transforming
growth factor β receptor in ten families with a newly described human phenotype that …
growth factor β receptor in ten families with a newly described human phenotype that …
[HTML][HTML] Aneurysm syndromes caused by mutations in the TGF-β receptor
BL Loeys, U Schwarze, T Holm… - … England Journal of …, 2006 - Mass Medical Soc
Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-
aneurysm syndrome with widespread systemic involvement. The disease is characterized by …
aneurysm syndrome with widespread systemic involvement. The disease is characterized by …
The revised Ghent nosology for the Marfan syndrome
BL Loeys, HC Dietz, AC Braverman… - Journal of medical …, 2010 - jmg.bmj.com
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology),
outlined by international expert opinion to facilitate accurate recognition of this genetic …
outlined by international expert opinion to facilitate accurate recognition of this genetic …
The 2017 international classification of the Ehlers–Danlos syndromes
F Malfait, C Francomano, P Byers… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …
[PDF][PDF] Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international …
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …
[HTML][HTML] Atenolol versus losartan in children and young adults with Marfan's syndrome
RV Lacro, HC Dietz, LA Sleeper… - … England Journal of …, 2014 - Mass Medical Soc
Background Aortic-root dissection is the leading cause of death in Marfan's syndrome.
Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more …
Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more …