Ghent University Academic Bibliography

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Marfan syndrome

Filip Vanhoenacker (UGent) , Annemiek Snoeckx and Bart Loeys

(2023) Musculoskeletal imaging. p.1-10
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A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation

Lotte Van Den Heuvel (UGent) , Silke Peeters, Josephina Meester, Melanie Perik, Paul Coucke and Bart Loeys (UGent)

(2023) STEM CELL RESEARCH. 67.
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HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN

Maryanne Caruana, Marieke J. Baars, Evy Bashiardes, Kalman Benke, Erik Björck, Andrei Codreanu, Elena de Moya Rubio, Julia Dumfarth, Arturo Evangelista, Maarten Groenink, et al.

(2023) EUROPEAN JOURNAL OF MEDICAL GENETICS. 66(1).
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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer (UGent) , Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait (UGent) , et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(9).
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Luminescent human iPSC-derived neurospheroids enable modeling of neurotoxicity after oxygen-glucose deprivation

Elise Van Breedam, Aleksandra Nijak, Tamariche Buyle-Huybrecht, Julia Di Stefano, Marlies Boeren, Jonas Govaerts, Alessandra Quarta, Tine Swartenbroekx, Eva Jacobs, Björn Menten (UGent) , et al.

(2022) NEUROTHERAPEUTICS. 19(2). p.550-569
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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Genetic counselling and testing in adults with congenital heart disease : a consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

Julie De Backer (UGent) , Antoine Bondue, Werner Budts, Arturo Evangelista, Pastora Gallego, Guillaume Jondeau, Bart Loeys, Maria L. Peña, Gisela Teixido-Tura, Ingrid van de Laar, et al.

(2020) EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. 27(13). p.1423-1435
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Compound heterozygous SCN5A mutations in severe sodium channelopathy with Brugada syndrome : a case report

Aleksandra Nijak, Alain J Labro (UGent) , Hans De Wilde (UGent) , Wendy Dewals, Steve Peigneur, Jan Tytgat, Dirk Snyders, Ewa Sieliwonczyk, Eline Simons, Emeline Van Craenenbroeck, et al.

(2020) FRONTIERS IN CARDIOVASCULAR MEDICINE. 7.
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Enrichment of rare variants in Loeys-Dietz syndrome genes in spontaneous coronary artery dissection but not in severe fibromuscular dysplasia

Aline Verstraeten, Melanie H.A.M. Perik, Anna A. Baranowska, Josephina A.N. Meester, Lotte Van Den Heuvel, Jarl Bastianen, Marlies Kempers, Ingrid P.C. Krapels, Angela Maas, Andrea Rideout, et al.

(2020) CIRCULATION. 142(10). p.1021-1024
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Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Aude Beyens (UGent) , Kyaran Van Meensel, Lore Pottie (UGent) , Riet De Rycke (UGent) , Michiel De Bruyne (UGent) , Femke Baeke (UGent) , Piet Hoebeke (UGent) , Frank Plasschaert (UGent) , Bart Loeys, Sofie De Schepper (UGent) , et al.

(2019) GENES. 10(7).

Academic Bibliography

Marfan syndrome

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation

HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Luminescent human iPSC-derived neurospheroids enable modeling of neurotoxicity after oxygen-glucose deprivation

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Genetic counselling and testing in adults with congenital heart disease : a consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

Compound heterozygous SCN5A mutations in severe sodium channelopathy with Brugada syndrome : a case report

Enrichment of rare variants in Loeys-Dietz syndrome genes in spontaneous coronary artery dissection but not in severe fibromuscular dysplasia

Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

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