Ghent University Academic Bibliography

Your filters: cql: author exact F573780C-F0ED-11E1-A9DE-61C894A0A6B4

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- Journal Article
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- open access
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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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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- Journal Article
- A1
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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

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

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