Ghent University Academic Bibliography

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- Conference Paper
- C3
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Adrien Georges, Min-Lee Yang, Takiy-Eddine Berrandou, Mark Bakker, Ozan Dikilitas, Soto Romuald Kiando, Mengyao Yu, Lu Liu, Sergiy Kyryachenko, Ines Sayoud, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.46-47
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- Conference Paper
- C3
Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Marlies Colman (UGent) , Robin Vroman (UGent) , Tibbe Dhooge, Zoë Malfait (UGent) , Birute Burnyte, Sheela Nampoothiri, Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167
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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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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , Jo Van Dorpe (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45
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- Conference Paper
- C3
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Thao Tran Thao Tran, Rachel Keller, Brecht Guillemyn (UGent) , Melanie Pepin, Jane Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait (UGent) , Sofie Symoens (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169
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- Conference Paper
- C3
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80
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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Josephine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes (UGent) , Sofie Symoens (UGent) , Wim Coucke, Valerie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472
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Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner's Syndrome

Thomas Naert, Dieter Tulkens (UGent) , Tom Van Nieuwenhuysen (UGent) , Joanna Przybyl, Suzan Demuynck (UGent) , Mushriq Al-Jazrawe, Matt van de Rijn, Benjamin Alman, Kim De Leenheer, Paul Coucke (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1). p.71-72
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Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients

Matthias Van Gils (UGent) , Justin Depauw, Shana Verschuere (UGent) , Lukas Nollet (UGent) and Olivier Vanakker (UGent)

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1). p.176-177
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Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum

Lukas Nollet (UGent) , Matthias Van Gils (UGent) , Andy Willaert (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1). p.74-74

Academic Bibliography

Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner's Syndrome

Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients

Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum

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