Ghent University Academic Bibliography

Your filters: cql: author="Devriendt, Koen" or (type any "bookEditor issueEditor" and editor="Devriendt, Koen")

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- Conference Paper
- C3
An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Karolien Aelbrecht (UGent) , Aude Beyens (UGent) , Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn (UGent) , Frank Kooy, Evelyn Meulewaeter, Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2024) 2nd World Congress on Rare Skin Diseases, Abstracts.
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy Kumps (UGent) , Erika D'haenens (UGent) , Sarah Vergult (UGent) , Jasmine Leus, Rudy Van Coster (UGent) , Anna Jansen, Koen Devriendt, Anna Oostra (UGent) and Olivier Vanakker (UGent)

(2021) CLINICAL GENETICS. 99(3). p.449-456
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- Journal Article
- A1
- open access
Enhanced MCP-1 release in early autosomal dominant polycystic kidney disease

Peter Janssens, Jean-Paul Decuypere, Stephanie De Rechter, Luc Breysem, Dorien Van Giel, Jaak Billen, An Hindryckx, Luc De Catte, Marcella Baldewijns, Kathleen Claes (UGent) , et al.

(2021) KIDNEY INTERNATIONAL REPORTS. 6(6). p.1687-1698
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- Journal Article
- A1
- open access
Metal mining and birth defects : a case-control study in Lubumbashi, Democratic Republic of the Congo

DAAN VAN BRUSSELEN, Tony Kayembe-Kitenge, Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Leon Kabamba Ngombe, Paul Musa Obadia, Daniel Kyanika wa Mukoma, Koen Van Herck (UGent) , Dirk Avonts (UGent) , Koen Devriendt, et al.

(2020) LANCET PLANETARY HEALTH. 4(4). p.E158-E167
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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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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Tim Van Damme (UGent) , Alain Colige, Delfien Syx (UGent) , Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, et al.

(2016) GENETICS IN MEDICINE. 18(9). p.882-891
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier Vanakker (UGent) , Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(4). p.151-156
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Haploinsufficiency of TAB2 causes congenital heart defects in humans

Bernard Thienpont, Litu Zhang, Alex V Postma, Jeroen Breckpot, Leon-Charles Tranchevent, Peter Van Loo, Kjedl Mollgard, Niels Tommerup, Iben Bache, Zeynep Tumer, et al.

(2010) AMERICAN JOURNAL OF HUMAN GENETICS. 86(6). p.839-849
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NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Catherine Dodé, Corinne Fouveaut, Geert Mortier (UGent) , Sandra Janssens (UGent) , Jérôme Bertherat, Jacques Mahoudeau, Marie-Laure Kottler, Christine Chabrolle, Antoine Gancel, Inge François, et al.

(2007) HUMAN MUTATION. 28(1). p.97-98
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Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features : a new syndrome?

Linde Goossens (UGent) , Sandra Janssens (UGent) , VALERIE MEERSSCHAUT (UGent) , Hilde Peeters, Hugo Devlieger and Koen Devriendt

(2006) CLINICAL DYSMORPHOLOGY. 15(2). p.71-74

Academic Bibliography

An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Enhanced MCP-1 release in early autosomal dominant polycystic kidney disease

Metal mining and birth defects : a case-control study in Lubumbashi, Democratic Republic of the Congo

Arterial tortuosity syndrome : 40 new families and literature review

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Haploinsufficiency of TAB2 causes congenital heart defects in humans

NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features : a new syndrome?

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