Ghent University Academic Bibliography

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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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- Journal Article
- A1
Health-related quality of life in children and young adults with Marfan syndrome

Jill C Handisides, Danielle Hollenbeck-Pringle, Karen Uzark, Felicia L Trachtenberg, Victoria L Pemberton, Teresa W Atz, Timothy J Bradley, Elizabeth Cappella, Sylvia De Nobele (UGent) , Georgeann Keh-Teng Groh, et al.

(2019) JOURNAL OF PEDIATRICS. 204. p.250-255
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- Conference Paper
- C3
Arterial tortuosity syndrome : 40 new families and literature review

Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Damien Bonnet, O Bostan, Odile Boute, T Busa, N Canham, Ergun Cil, et al.

(2017) European Society of Human Genetics, 50th Annual meeting, Abstracts.
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Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, CHRISTINE VAN HEMELRIJK (UGent) , Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R Huyghe, Ann Raes (UGent) , et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(1). p.174-187
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- Book Chapter
Marfan syndrome

Filip Vanhoenacker (UGent) , Annemie Snoeckx and Bart Loeys (UGent)

(2015) Musculoskeletal imaging. In Expert Radiology p.895-902
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- C3
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Joubert syndrome in three siblings

Martine KF Docx, Bart Loeys (UGent) , Heidi Hoeben, Mark Helbert and Johan Vande Walle (UGent)

(2015) Annual meeting BVN-SBN, Abstracts.
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- Conference Paper
- C3
Joubert syndrome in three siblings

Martine Docx, Bart Loeys (UGent) and Johan Vande Walle (UGent)

(2015) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS. In Tijdschrift van de Belgische kinderarts 17(1). p.93-93
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- Journal Article
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Atenolol versus losartan in children and young adults with Marfan's syndrome

RV Lacro, HC Dietz, LA Sleeper, AT Yetman, TJ Bradley, SD Colan, GD Pearson, ES Selamet Tierney, JC Levine, AM Atz, et al.

(2014) NEW ENGLAND JOURNAL OF MEDICINE. 371(22). p.2061-2071
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- Journal Article
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Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Paul Ramaekers, Bart Loeys (UGent) , Catharina von Lowtzow, Heiko Reutter, Yves Leroy, Cécile Colpaert, Bettina Blaumeiser, Katrien Janssens, Maxim Parizel and Yves Jacquemyn

(2014) BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY. 100(10). p.797-800
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- Journal Article
- A1
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Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Marjolijn Renard (UGent) , Bram Trachet (UGent) , Christophe Casteleyn (UGent) , Laurence Campens (UGent) , Pieter Cornillie (UGent) , Bert Callewaert (UGent) , Steven Deleye, Bert Vandeghinste (UGent) , Paula van Heijningen, Harry Dietz, et al.

(2014) PLOS ONE. 9(2).
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- Journal Article
- A2
Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE -/- mice

Bram Trachet (UGent) , Marjolijn Renard (UGent) , Carole Van der Donckt, Steven Deleye, Joris Bols (UGent) , Guido RY De Meyer, Steven Staelens (UGent) , Bart Loeys (UGent) and Patrick Segers (UGent)

(2014) ARTERY RESEARCH. 8(1). p.16-23
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- Journal Article
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Björn Menten (UGent) , Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, et al.

(2014) JOURNAL OF MEDICAL GENETICS. 51(1). p.21-27
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- Conference Paper
- C3
Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome

Ronald V Lacro, Harry C Dietz, Lynn A Sleeper, Anji T Yetman, Timothy J Bradley, Steven D Colan, Gail D Pearson, Elif S Selamet Tierney, Jami C Levine, Andrew M Atz, et al.

(2014) CIRCULATION. 130(23). p.2109-2109
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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn Renard (UGent) , Bert Callewaert (UGent) , Machteld Baetens (UGent) , Laurence Campens (UGent) , Kay MacDermot, Jean-Pierre Fryns, Marise Bonduelle, Harry C Dietz, Isabel Mendes Gaspar, Diogo Cavaco, et al.

(2013) INTERNATIONAL JOURNAL OF CARDIOLOGY. 165(2). p.314-321
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- Conference Paper
- C3
A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Arnaud Vanlander (UGent) , Claudia Willbrecht, Nikhita Ajit Bolar, Joél Smet (UGent) , Boel De Paepe (UGent) , Elien De Latter (UGent) , Lut Van Laer (UGent) , Bart Loeys (UGent) , Roland Lill and Rudy Van Coster (UGent)

(2013) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 17(suppl. 1). p.S5-S6
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- Journal Article
- A1
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Ronald V Lacro, Lin T Guey, Harry C Dietz, Gail D Pearson, Anji T Yetman, Bruce D Gelb, Bart Loeys (UGent) , D Woodrow Benson, Timothy J Bradley, Julie De Backer (UGent) , et al.

(2013) AMERICAN HEART JOURNAL. 165(5). p.828-835
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- Book Chapter
Aortic hemodynamics and their role in aneurysm location: can mice provide more insight?

Bram Trachet (UGent) , Stefaan Vandenberghe (UGent) , Bart Loeys (UGent) and Patrick Segers (UGent)

(2013) Aortic aneurysms : risk factors, diagnosis, surgery and repair. p.155-168
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- Journal Article
- A1
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene

L Vallaeys, Stephanie Van Biervliet (UGent) , G De Bruyn, Bart Loeys (UGent) , AS Moring, E Van Deynse and L Cornette

(2013) EUROPEAN JOURNAL OF PEDIATRICS. 172(3). p.409-411
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- Journal Article
- A1
Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Filomeen Haerynck (UGent) , JM Mahachie John, Kristel Van Steen (UGent) , Petra Schelstraete (UGent) , Sabine Van daele (UGent) , Bart Loeys (UGent) , Mira Van Thielen, I De Canck, Lieve Nuytinck (UGent) and Frans De Baets (UGent)

(2013) HUMAN IMMUNOLOGY. 74(12). p.1649-1655
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- Journal Article
- A1
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit Bolar, Arnaud Vanlander (UGent) , Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter (UGent) , et al.

(2013) HUMAN MOLECULAR GENETICS. 22(13). p.2590-2602

Academic Bibliography

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

Health-related quality of life in children and young adults with Marfan syndrome

Arterial tortuosity syndrome : 40 new families and literature review

Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

Marfan syndrome

Joubert syndrome in three siblings

Joubert syndrome in three siblings

Atenolol versus losartan in children and young adults with Marfan's syndrome

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE -/- mice

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Aortic hemodynamics and their role in aneurysm location: can mice provide more insight?

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

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