Ghent University Academic Bibliography

Journal Article
A1
open access

Genetic variants in ARHGEF6 cause congenital anomalies of the kidneys and urinary tract in humans, mice, and frogs

V. Klämbt, F. Buerger, C. Wang, Thomas Naert, K. Richter, T. Nauth, A. C. Weiss, T. Sieckmann, E. Lai, D. Connaughton, et al.

(2023) JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 34(2). p.273-290

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A1
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Proximity mapping of CCP6 reveals its association with centrosome organization and cilium assembly

Sergi Rodriguez-Calado, Petra Van Damme (UGent) , Francesc Xavier Avilés, Ana Paula Candiota, Sebastian Tanco (UGent) and Julia Lorenzo

(2023) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 24(2).

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A1
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HNF1B alters an evolutionarily conserved nephrogenic program of target genes

Kelli Grand, Martine Stoltz, Ludovica Rizzo, Ruth Roeck, Michael M. Kaminski, Gabriela Salinas, Maike Getwan, Thomas Naert, Roman Pichler and Soeren S. Lienkamp

(2023) JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 34(3). p.412-432

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Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

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

(2023) JOURNAL OF CLINICAL MEDICINE. 12(5).

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A1
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Neonatal lactic acidosis explained by LARS2 defect

Boel De Paepe (UGent) , Joél Smet (UGent) , Robert Kopajtich, Holger Prokisch, Rudy Van Coster (UGent) and Arnaud Vanlander (UGent)

(2023) PEDIATRIC RESEARCH. 93. p.740-743

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Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Kimberley Stee (UGent) , Mario Van Poucke (UGent) , Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie Bhatti (UGent) , Luc Peelman (UGent) and Ine Cornelis (UGent)

(2023) JOURNAL OF VETERINARY INTERNAL MEDICINE. 37(1). p.216-222

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A1
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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, et al.

(2023) ORPHANET JOURNAL OF RARE DISEASES. 18(1).

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Journal Article

Assisted oocyte activation does not overcome recurrent embryo developmental problems

Arantxa Cardona Barberán (UGent) , Davina Bonte, Annekatrien Boel (UGent) , Vanessa Thys (UGent) , Ruth Paredis, Femke Machtelinckx, Petra De Sutter (UGent) , Ilse De Croo (UGent) , Luc Leybaert (UGent) , Dominic Stoop (UGent) , et al.

(2023) HUMAN REPRODUCTION.

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valerie Benoit, Kailash P. Bhatia, et al.

(2022) CLINICAL GENETICS. 102(2). p.98-109

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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Linda A. J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter (UGent) , Kathleen Claes (UGent) , Gareth Evans, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(12).

Academic Bibliography

Genetic variants in ARHGEF6 cause congenital anomalies of the kidneys and urinary tract in humans, mice, and frogs

Proximity mapping of CCP6 reveals its association with centrosome organization and cilium assembly

HNF1B alters an evolutionarily conserved nephrogenic program of target genes

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Neonatal lactic acidosis explained by LARS2 defect

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Assisted oocyte activation does not overcome recurrent embryo developmental problems

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

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