Ghent University Academic Bibliography

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Your filters: cql: author="Arbustini, Eloisa" or (type any "bookEditor issueEditor" and editor="Arbustini, Eloisa")

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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Infrid MBH van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, et al.

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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- Miscellaneous
Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Philippe Charron, Anne H Child, Gwenaelle Collod-Beroud, Julie De Backer (UGent) , Anne De Paepe (UGent) , Anna Dierking, Laurence Faivre, et al.

(2016) EUROPEAN JOURNAL OF HUMAN GENETICS. 24(1). p.146-150
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Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data : a report from the Marfan Treatment Trialists' Collaboration

Alex Pitcher, Jonathan Emberson, Ronald V Lacro, Lynn A Sleeper, Mario Stylianou, Lynn Mahony, Gail D Pearson, Maarten Groenink, Barbara J Mulder, Aeilko H Zwinderman, et al.

(2015) AMERICAN HEART JOURNAL. 169(5). p.605-612
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Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling

Reed Pyeritz, Guillaume Jondeau, Rocio Moran, Julie De Backer (UGent) , Eloisa Arbustini, Anne De Paepe (UGent) and Dianna Milewicz

(2014) GENETICS IN MEDICINE. 16(8). p.641-642
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Virgini Carmignac, Julien Thevenon, Lesly Adès, Bert Callewaert (UGent) , Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(5). p.950-957
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Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Chantal Stheneur, Laurence Faivre, Gwenaelle Collod-Beroud, Elodie Gautier, Christine Binquet, Claira-e Bonithon-Kopp, Mireille Claustres, Anne H Child, Eloisa Arbustini, Lesley C Ades, et al.

(2011) PEDIATRIC RESEARCH. 69(3). p.265-270
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- Miscellaneous
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Anne Child, Gwenaelle Collod-Beroud, Anne De Paepe (UGent) , Jörg Epplen, Guillaume Jondeau, Bart Loeys (UGent) and Laurence Faivre

(2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(9).
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Cardiovascular manifestations in men and women carrying a FBN1 mutation

Delphine Detaint, Laurence Faivre, Gwenaelle Collod-Beroud, Anne H Child, Bart Loeys (UGent) , Christine Binquet, Elodie Gautier, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, et al.

(2010) EUROPEAN HEART JOURNAL. 31(18). p.2223-2229
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, Bert Callewaert (UGent) , Anne H Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, et al.

(2009) PEDIATRICS. 123(1). p.391-398

Academic Bibliography

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data : a report from the Marfan Treatment Trialists' Collaboration

Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

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