Epileptic encephalopathy in a boy with an interstitial deletion of Xp22 comprising the CDKL5 gene

Marijke Bauters , Linda De Meirleir , Guy Froyen , Hilde Van Esch
Epilepsia 47 367 -367

2
2006
Novel changes in the SLC16A2 gene identified by X-exome sequencing in two Finnish families with Allan-Herndon Dudley syndrome

I Järvelä , Guy Froyen , Hilde Van Esch , AK Philips
European Journal of Human Genetics 21 161 -162

1
2013
Systematic mutation search in families with X-linked intellectual disability by nextgeneration sequencing

M Vingron , T Zemojtel , VM Kalscheuer , Suzanne Frints
Medizinische Genetik 23 79

2011
Development and validation of the “chromosome X exon-specific array” that enables identification of copy number changes in genes of the X chromosome

PC Patsalis , S Bashiardes , LK Kousoulidou , C Moraine
European Journal of Human Genetics 15 312 -312

2007
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities.

Ola Landgren , Ingrid Arijs , Ingrid Arijs , Dickran Kazandjian
Nature Communications 12 ( 1) 1861

1
2021
45
1994
Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.

Lieselot Vanmarsenille , Jelle Verbeeck , Stefanie Belet , Anton J. Roebroek
PLOS ONE 8 ( 5)

4
2013
A COMPETITIVE RT-PCR METHOD FOR THE QUANTITATIVE ANALYSIS OF CYTOKINE mRNAs IN MOUSE TISSUES

Nai-Ming Zhou , Patrick Matthys , Charlotta Polacek , Pierre Fiten
Cytokine 9 ( 3) 212 -218

18
1997
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Marijke Bauters , Suzanna G. Frints , Hilde Van Esch , Liesbeth Spruijt
American Journal of Medical Genetics Part A 164 ( 8) 1947 -1952

22
2014
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

Suzanna G.M. Frints , Guy Froyen , Peter Marynen , Diane Willekens
American Journal of Medical Genetics 112 ( 4) 427 -428

28
2002
Clinical study and haplotype analysis in two brothers with Partington syndrome

Suzanna G.M. Frints , Martine Borghgraef , Guy Froyen , Peter Marynen
American Journal of Medical Genetics 112 ( 4) 361 -368

10
2002
Single allele knock-out of Candida albicans CGT1 leads to unexpected resistance to hygromycin B and elevated temperature.

Marianne D. De Backer , Ronald A. de Hoogt , Guy Froyen , Frank C. Odds
Microbiology 146 ( 2) 353 -365

18
2000
Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

Joke Vandewalle , Marion Langen , Marlen Zschaetzsch , Bonnie Nijhof
PLoS ONE 8 ( 11) e81791

18
2013
A longer tracheal occlusion period results in increased lung growth in the nitrofen rat model.

Veronika Beck , Marcus G. Davey , Steffi Mayer , Guy Froyen
Prenatal Diagnosis 32 ( 1) 39 -44

3
2012
Granulocyte chemotactic protein-2 and related CXC chemokines: from gene regulation to receptor usage.

Jo Van Damme , Anja Wuyts , Guy Froyen , Els Van Coillie
Journal of Leukocyte Biology 62 ( 5) 563 -569

92
1997
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia

Idoya Lahortiga , Kim De Keersmaecker , Pieter Van Vlierberghe , Carlos Graux
Nature Genetics 39 ( 5) 593 -595

221
2007
Partial duplications of the ATRX gene cause the ATR-X syndrome

Bernard Thienpont , Thomy de Ravel , Hilde Van Esch , Dominique Van Schoubroeck
European Journal of Human Genetics 15 ( 10) 1094 -1097

24
2007