prof. dr. Geert Mortier

Journal Article
A1
open access

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2025) JOURNAL OF EXPERIMENTAL MEDICINE. 222(5).

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Miscellaneous
open access

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2024) MEDRXIV.

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A novel in vivo model for Paget's disease of bone : the sqstm1tmΔUBA zebrafish line

Yentl Huybrechts, Raphael De Ridder, Bjorn De Samber, Eveline Boudin, Francesca Tonelli, Dries Knapen, Dorien Schepers, Jan De Beenhouwer (UGent) , Jan Sijbers, Dylan Bergen, et al.

(2023) JOURNAL OF BONE AND MINERAL RESEARCH. In Journal of Bone and Mineral Research 38(Supplement 1). p.279-279

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Une cause congénitale de douleur dans le dos et dans les jambes

Genoveva Aleksieva-Ivkova, Filip Vanhoenacker (UGent) , Geert Mortier (UGent) and Paul M Parizel

(2017) ORTHO RHUMATO (ED. FRANÇAISE). 15(5). p.38-40

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Aangeboren oorzaak van pijn in de rug en benen

Genoveva Aleksieva-Ivkova, Filip Vanhoenacker (UGent) , Geert Mortier (UGent) and Paul M Parizel

(2017) ORTHO RHUMATO (NEDERLANDSE ED.). 15(5). p.38-40

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Identification of a novel COL1A1 mutation associated with Caffey disease

Tibbe Dhooge, Delfien Syx (UGent) , Geert Mortier (UGent) , Dagmar Wieczorek, Sheila Unger, Andreas Zankl, Toni Hospach, Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2017) Collagen, Gordon research conference, Abstracts.

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Stickler syndrome: comprehensive clinical and molecular analysis

Frederic Acke (UGent) , Paul Coucke (UGent) , Olivier Vanakker (UGent) , Kristien Hoornaert (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Fransiska Malfait (UGent)

(2016) European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book.

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Book Chapter

Focal growth disturbances

Filip Vanhoenacker (UGent) and Geert Mortier (UGent)

(2015) Musculoskeletal imaging. p.1070-1073

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Miscellaneous

Implementatie van niet-invasieve prenatale genetische screening van trisomie 21 (Syndroom van Down) in de Belgische zorgpraktijk

Bert Aertgeerts, Hélène Antoine-Poirel, Bettina Blaumeiser, Jean-Jacques Cassiman, Caroline Daelemans, Luc De Catte, Petra De Sutter (UGent) , Leopold de Thibault de Boesinghe, Bruno Flamion, Vincent Haufroid [missing], et al.

(2014) In Adviezen van de Hoge Gezondheidsraad

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic Acke (UGent) , Fransiska Malfait (UGent) , Olivier Vanakker (UGent) , Wouter Steyaert (UGent) , Kim De Leeneer (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Paul Coucke (UGent)

(2014) MOLECULAR GENETICS AND METABOLISM. 113(3). p.230-235

Academic Bibliography

prof. dr. Geert Mortier

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

A novel in vivo model for Paget's disease of bone : the sqstm1tmΔUBA zebrafish line

Une cause congénitale de douleur dans le dos et dans les jambes

Aangeboren oorzaak van pijn in de rug en benen

Identification of a novel COL1A1 mutation associated with Caffey disease

Stickler syndrome: comprehensive clinical and molecular analysis

Focal growth disturbances

Implementatie van niet-invasieve prenatale genetische screening van trisomie 21 (Syndroom van Down) in de Belgische zorgpraktijk

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

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