A. Gheldof

发表

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

G. Schaaf, Jeroen A. A. Demmers, R. Poot, 2019, Brain : a journal of neurology.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

P. Byers, M. Holder-Espinasse, W. Lissens, 2017, Journal of Medical Genetics.

Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions

S. Seneca, K. Stouffs, A. Gheldof, 2018 .

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

T. de Ravel, A. Flamez, L. Pannone, 2022, Frontiers in Neurology.

Clinical implementation of gene panel testing for lysosomal storage diseases

S. Seneca, P. Verloo, L. de Meirleir, 2018, Molecular genetics & genomic medicine.

Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants

A. Gheldof, P. Bernard, P. Lysy, 2021, Clinical case reports.

Identification of a ZEB2-MITF-ZEB1 transcriptional network that controls melanogenesis and melanoma progression

G. Berx, J. Marine, D. Huylebroeck, 2014, Cell Death and Differentiation.

Are AZFb deletions always incompatible with sperm production?

S. Seneca, H. Tournaye, K. Stouffs, 2017, Andrology.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

S. Seneca, H. Tournaye, W. Lissens, 2016, BioMed research international.

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

Y. Cheong, W. Verpoest, D. Mackay, 2019, Journal of Medical Genetics.

Functional analysis of the EMT inducing transcription factor ZEB1 during malignant carcinoma progression

A. Gheldof, 2011 .

Sustained intrinsic WNT and BMP4 activation impairs hESC differentiation to definitive endoderm and drives the cells towards extra-embryonic mesoderm

K. Sermon, C. Spits, M. Geens, 2021, Scientific Reports.

Constitutional activation of BMP4 and WNT signalling in hESC results in impaired mesendoderm differentiation

K. Sermon, C. Spits, M. Geens, 2020, bioRxiv.

EMT as the ultimate survival mechanism of cancer cells.

M. Tatari, G. Christofori, N. Tiwari, 2012, Seminars in cancer biology.

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Carla Al Assaf, W. Lissens, A. Jansen, 2014, bioRxiv.

EDIR: exome database of interspersed repeats

S. Seneca, Catharina Olsen, A. Gheldof, 2022, Bioinformatics.

Evolutionary functional analysis and molecular regulation of the ZEB transcription factors

G. Berx, P. Hulpiau, F. van Roy, 2012, Cellular and Molecular Life Sciences.

Evolutionary functional analysis and molecular regulation of the ZEB transcription factors

G. Berx, P. Hulpiau, F. Roy, 2012, Cellular and Molecular Life Sciences.

Cadherins and epithelial-to-mesenchymal transition.

Alexander Gheldof, G. Berx, Geert Berx, 2013, Progress in molecular biology and translational science.

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing

M. Swanson, C. Spits, P. Hilven, 2022, Biology open.

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

S. Van Dooren, S. Costagliola, M. Bonduelle, 2020, F&S reports.

Differential impact of TGF-beta and EGF on fibroblast differentiation and invasion reciprocally promotes colon cancer cell invasion.

O. De Wever, P. Pauwels, W. Westbroek, 2008, Cancer letters.

I-PV: a CIRCOS module for interactive protein sequence visualization

Ibrahim Tanyalcin, Katrien Stouffs, Carla Al Assaf, 2015, Bioinform..

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.

J. Vermeesch, K. Sermon, C. Spits, 2020, Human Molecular Genetics.

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

J. Vermeesch, K. Sermon, C. Spits, 2020, bioRxiv.

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

S. Seneca, H. Tournaye, K. Stouffs, 2018, Journal of Assisted Reproduction and Genetics.

Ascites in infantile onset type II Sialidosis

A. Gheldof, C. de Laet, V. Guy-Viterbo, 2022, JIMD reports.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

A. Fortuna, K. Sermon, A. Jansen, 2022, American journal of human genetics.

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

S. Seneca, B. Velkeniers, J. de Filette, 2016, Neurology: Genetics.

Commentary on NOBOX Mutations in Premature Ovarian Insufficiency

M. Abramowicz, J. Désir, A. Gheldof, 2022, Archives of Molecular Biology and Genetics.

Expanding the clinical spectrum of biallelic ZNF335 variants

C. Walsh, S. Seneca, A. Stergachis, 2018, Clinical genetics.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

S. Seneca, L. de Meirleir, A. Jansen, 2018, European journal of medical genetics.

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Dorien Daneels, Ibrahim Tanyalcin, Katrien Stouffs, 2016, BMC Bioinformatics.

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

R. McGowan, A. Novelli, C. Gravholt, 2022, Endocrine connections.

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

S. Viville, K. Sermon, W. Verpoest, 2022, Human reproduction update.