Ghent University Academic Bibliography

Journal Article
A1
open access

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al.

(2021) GENOME MEDICINE. 13(1).

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Journal Article
A1
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Lore Pottie (UGent) , Wouter Van Gool (UGent) , Michiel Vanhooydonck (UGent) , Franz-Georg Hanisch, Geert Goeminne (UGent) , Andreja Rajkovic (UGent) , Paul Coucke (UGent) , Patrick Sips (UGent) and Bert Callewaert (UGent)

(2021) PLOS GENETICS. 17(6).

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A1
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, et al.

(2018) GENETICS IN MEDICINE. 20(9). p.965-975

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A1
open access

Zeb2 regulates cell fate at the exit from epiblast state in mouse embryonic stem cells

Agata Stryjewska, Ruben Dries, Tim Pieters (UGent) , Griet Verstappen, Andrea Conidi, Kathleen Coddens, Annick Francis, Lieve Umans, Wilfred FJ van IJcken, Geert Berx (UGent) , et al.

(2017) STEM CELLS. 35(3). p.611-625

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Journal Article
A1
open access

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, et al.

(2017) GENETICS IN MEDICINE. 19(6). p.691-700

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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Ilse M. van der Werf, Anke Van Dijck, Edwin Reyniers, Celine Helsmoortel, Ajay Anand Kumar, Vera M. Kalscheuer, Arjan P. M. de Brouwer, Tjitske Kleefstra, Hans van Bokhoven, Geert Mortier, et al.

(2017) GENE. 605. p.92-98

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Journal Article
A1
open access

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Eva D'haene (UGent) , Eva Jacobs, Pieter-Jan Volders (UGent) , Tim De Meyer (UGent) , Björn Menten (UGent) and Sarah Vergult (UGent)

(2016) SCIENTIFIC REPORTS. 6.

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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome

RH Ali, K Shah, A Nasir, Wouter Steyaert (UGent) , Paul Coucke (UGent) and W Ahmad

(2016) CLINICAL GENETICS. 90(3). p.263-269

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A1
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Screening for intellectual disability in persons with a substance abuse problem: exploring the validity of the Hayes ability screening index in a Dutch-speaking sample

Wing Ting To (UGent) , Stijn Vanheule (UGent) , Wouter Vanderplasschen (UGent) , Kurt Audenaert (UGent) and Stijn Vandevelde (UGent)

(2015) RESEARCH IN DEVELOPMENTAL DISABILITIES. 36. p.498-504

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A1
open access

Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, et al.

(2015) ORPHANET JOURNAL OF RARE DISEASES. 10.

Academic Bibliography

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Zeb2 regulates cell fate at the exit from epiblast state in mouse embryonic stem cells

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome

Screening for intellectual disability in persons with a substance abuse problem: exploring the validity of the Hayes ability screening index in a Dutch-speaking sample

Phenotypic and molecular insights into CASK-related disorders in males

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