Ghent University Academic Bibliography

Journal Article
A1
open access

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens (UGent) , Louise Tofts, Craig Munns and Verity Pacey

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).

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Journal Article
A2
open access

Loss of TANGO1 leads to absence of bone mineralization

Brecht Guillemyn (UGent) , Sheela Nampoothiri, Delfien Syx (UGent) , Fransiska Malfait (UGent) and Sofie Symoens (UGent)

(2021) JBMR PLUS. 5(3).

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Journal Article
A1
open access

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

Francesca Tonelli, Jan Willem Bek (UGent) , Roberta Besio, Adelbert De Clercq (UGent) , Laura Leoni, Phil Salmon, Paul Coucke (UGent) , Andy Willaert (UGent) and Antonella Forlino

(2020) FRONTIERS IN ENDOCRINOLOGY. 11.

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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, et al.

(2020) CLINICAL GENETICS. 97(3). p.396-406

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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Sheela Nampoothiri, Brecht Guillemyn (UGent) , Nursel Elcioglu, Sujatha Jagadeesh, Dhanya Yesodharan, Beena Suresh, Serap Turan, Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 179(6). p.908-914

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Journal Article
A1
open access

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta : a follow-up study

Sarie Martens (UGent) , Ingeborg Dhooge (UGent) and Freya Swinnen (UGent)

(2018) JOURNAL OF LARYNGOLOGY AND OTOLOGY. 132(8). p.703-710

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Journal Article
A1
open access

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte Gistelinck (UGent) , Ronald Y Kwon, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips (UGent) , Brecht Guillemyn (UGent) , et al.

(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046

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Vascular aspects of the Ehlers-Danlos syndromes

Fransiska Malfait (UGent)

(2018) MATRIX BIOLOGY. 71-72(SI). p.380-395

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Journal Article
A1
open access

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama Essawi (UGent) , Sofie Symoens (UGent) , Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert (UGent) , Tamer Essawi, Bert Callewaert (UGent) , Anne De Paepe (UGent) , Fransiska Malfait (UGent) , et al.

(2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(1). p.15-26

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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, et al.

(2017) HUMAN MOLECULAR GENETICS. 26(12). p.2207-2217

Academic Bibliography

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Loss of TANGO1 leads to absence of bone mineralization

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta : a follow-up study

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Vascular aspects of the Ehlers-Danlos syndromes

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

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