Ghent University Academic Bibliography

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.

Add to list

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.

Add to list

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

Add to list

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

Add to list

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

Add to list

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

Add to list

Vascular aspects of the Ehlers-Danlos syndromes

Fransiska Malfait (UGent)

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

Add to list

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

Add to list

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie Symoens (UGent) , Wouter Steyaert (UGent) , Lynn Demuynck (UGent) , Anne De Paepe (UGent) , Karin EM Diderich, Fransiska Malfait (UGent) and Paul Coucke (UGent)

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(4). p.1047-1050

Add to list

BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta : results of a randomized phase 2a trial

Francis H Glorieux, Jean-Pierre Devogelaer, Michaela Durigova, Stefan Goemaere (UGent) , Sarah Hemsley, Franz Jakob, Uwe Junker, Jon Ruckle, Lothar Seefried and Peter J Winkle

(2017) JOURNAL OF BONE AND MINERAL RESEARCH. 32(7). p.1496-1504

Academic Bibliography

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

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

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

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

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Vascular aspects of the Ehlers-Danlos syndromes

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

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta : results of a randomized phase 2a trial

Contents

Support

Contact