Ghent University Academic Bibliography

Journal Article
A1
open access

Tissue of origin, but not XCI state, influences germ cell differentiation from human pluripotent stem cells

Yolanda W. Chang, Arend W. Overeem, Celine M. Roelse, Xueying Fan, Christian Freund and Susana Marina Chuva de Sousa Lopes (UGent)

(2021) CELLS. 10(9).

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Journal Article
A1
open access

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133

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Journal Article
A1
open access

Parental haplotype-specific single-cell transcriptomics reveal incomplete epigenetic reprogramming in human female germ cells

Abel Vertesy, Wibowo Arindrarto, Matthias S Roost, Bjorn Reinius, Vanessa Torrens-Juaneda, Monika Bialecka, Ioannis Moustakas, Yavuz Ariyurek, Ewart Kuijk, Hailiang Mei, et al.

(2018) NATURE COMMUNICATIONS. 9.

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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, et al.

(2018) GENETICS IN MEDICINE. 21(4). p.837-849

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High oxygen tension increases global methylation in bovine 4-cell embryos and blastocysts but does not affect general retrotransposon expression

Wenwen Li (UGent) , Karen Goossens, Mario Van Poucke (UGent) , Katrien Forier (UGent) , Kevin Braeckmans (UGent) , Ann Van Soom (UGent) and Luc Peelman (UGent)

(2016) REPRODUCTION FERTILITY AND DEVELOPMENT. 28(7). p.948-959

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Journal Article
A1
open access

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Line M Myklebust, Petra Van Damme (UGent) , Svein I Støve, Max J Dörfel, Angèle Abboud, Thomas V Kalvik, Cedric Grauffel, Veronique Jonckheere (UGent) , Yiyang Wu, Jeffrey Swensen, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(7). p.1956-1976

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Long non-coding RNAs in pluripotent stem cell biology

Tim Lammens (UGent) , Inge D'hont (UGent) , Katharina D'Herde (UGent) , Yves Benoit and Araceli Diez Fraile

(2013) VETERINARY QUARTERLY. 33(4). p.202-206

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Journal Article
A1
open access

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Sarah Vergult (UGent) , Bart Leroy (UGent) , Ilse Claerhout (UGent) and Björn Menten (UGent)

(2013) MOLECULAR VISION. 19. p.311-318

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Journal Article
A1
open access

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens (UGent) , Shehla Mohammed, et al.

(2012) ORPHANET JOURNAL OF RARE DISEASES. 7.

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Discordance for retinitis pigmentosa in two monozygotic twin pairs

LIEVE BERGHMANS (UGent) , Regina Halfeld Furtado de Mendonça, Frauke Coppieters (UGent) , Otacílio de Oliveira Maia Júnior, Walter Yukihiko Takahashi, Willy Lissens, Elfride De Baere (UGent) and Bart Leroy (UGent)

(2011) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 31(6). p.1164-1169

Academic Bibliography

Tissue of origin, but not XCI state, influences germ cell differentiation from human pluripotent stem cells

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Parental haplotype-specific single-cell transcriptomics reveal incomplete epigenetic reprogramming in human female germ cells

IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients

High oxygen tension increases global methylation in bovine 4-cell embryos and blastocysts but does not affect general retrotransposon expression

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Long non-coding RNAs in pluripotent stem cell biology

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Clinical expression of Menkes disease in females with normal karyotype

Discordance for retinitis pigmentosa in two monozygotic twin pairs

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