Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Lore Pottie

Ghent University Hospital

ORCID iD: 0000-0001-5102-975X

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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien Beyls (UGent) , Evi Duthoo (UGent) , Lynn Backers (UGent) , Karlien Claes (UGent) , [missing] RAPID clinicians, Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Victoria Bordon, Carolien Bonroy (UGent) , Simon Tavernier (UGent) , et al.

(2024) MEDRXIV.
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- Conference Paper
- C3
- open access
The clinical use of exome sequencing to diagnose PCD patients

Lore Pottie (UGent) , Sofie Symoens (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.385-385
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- Conference Paper
- C3
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Adelbert De Clercq (UGent) , Matthias Van Impe (UGent) , Delfien Syx (UGent) , Andy Willaert (UGent) , Lisa Caboor (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.
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- Conference Paper
- C3
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Maxim Verlee (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Adelbert De Clercq (UGent) , Lisa Caboor (UGent) , Matthias Van Impe (UGent) , Delfien Syx (UGent) , et al.

(2023) European Society for Human Genetics (ESHG) Conference 2023, Abstracts.
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- Conference Paper
- C3
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Maxim Verlee (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Adelbert De Clercq (UGent) , Lisa Caboor (UGent) , Matthias Van Impe (UGent) , Delfien Syx (UGent) , et al.

(2023) Gordon Research Conference (GRC) 2023 : Elastin, Elastic Fibers and Microfibrils, Abstracts.
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Lisa Caboor (UGent) , Adelbert De Clercq (UGent) , Matthias Van Impe (UGent) , Andy Willaert (UGent) , Patrick Sips (UGent) , et al.

(2022) IZFC 2022 : 17th International Zebrafish Conference, Abstracts.
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck (UGent) , Lore Pottie (UGent) , Annekatrien Boel (UGent) , Piyanoot Tapaneeyaphan (UGent) , Marta Guerreiro Santana Ramos Da Silva (UGent) , Adelbert De Clercq (UGent) , Lisa Caboor (UGent) , Matthias Van Impe (UGent) , Andy Willaert (UGent) , Patrick Sips (UGent) , et al.

(2022) RARE-MED Symposium 2022, Abstracts. p.14-14
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens (UGent) , Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(12). p.2230-2252
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- Conference Paper
- C3
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore Pottie (UGent) , Christin S. Adamo, Aude Beyens (UGent) , Steffen Luetke, Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Phil Salmon, Riet De Rycke (UGent) , Alper Gezdirici, Elif Yilmaz Gulec, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41
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- Book Chapter
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)

Aude Beyens (UGent) , Lore Pottie (UGent) , Patrick Sips (UGent) and Bert Callewaert (UGent)

(2021) Progress in Heritable Soft Connective Tissue Diseases. In Advances in Experimental Medicine and Biology (AEMB) 1348. p.C1-C1

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