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Genomes and GenesSpecies | Hilde Van EschSummaryAffiliation: Katholieke Universiteit Leuven Country: Belgium Publications
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Publications
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicusHilde Van Esch
Centre for Human Genetics, Division of Clinical Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
Clin Dysmorphol 13:261-3. 2004..Different diagnoses were considered in this patient, including the pentalogy of Cantrell and Donnai-Barrow syndrome. However, none can account for all the abnormalities seen...- Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaHilde Van Esch
Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
Eur J Hum Genet 13:121-3. 2005..In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years... 
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch
Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Am J Hum Genet 77:442-53. 2005..Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients...- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian familyHilde Van Esch
Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium
Eur J Med Genet 48:145-52. 2005..00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene... - Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genesGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
Hum Mutat 28:1034-42. 2007.... 
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndromeLiesbeth Backx
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium
Am J Med Genet A 152:319-26. 2010..Breakpoint analysis using array painting revealed that the Quaking (QKI) gene that maps in 6q26 is disrupted, suggesting that haploinsufficiency of this gene plays a role in the 6q- clinical phenotype...- Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke Vandewalle
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
Am J Hum Genet 85:809-22. 2009..Moreover, these data also imply that a copy-number gain of an individual gene present in the larger genomic aberration that leads to the severe MECP2 duplication syndrome can of itself result in a clinical phenotype as well... - BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndromeJeroen Breckpot
Center for Human Genetics, University Hospitals Leuven, Herestraat 49, bus 602, B 3000 Leuven, Belgium
Eur J Med Genet 55:12-6. 2012.... - 2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov
Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
J Med Genet 48:98-104. 2011..DLX1 and DLX2 haploinsufficiency was suggested as the most plausible explanation for the observed SHFM-like limb anomalies in these cases... - Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
Genome Res 18:847-58. 2008..Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements... - Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
Am J Hum Genet 82:432-43. 2008..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too... - Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont
Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
Eur J Hum Genet 15:1094-7. 2007..These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene... - Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)Irina Balikova
Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
Eur J Med Genet 52:260-1. 2009..We describe a female patient with der(2) t(2;10)(q37;q26). She presented with congenital malformations typical of a terminal 2q deletion, associated with immune deficiency leading to bronchiectasis... - Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genesHilde Van Esch
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium
Am J Med Genet A 143:364-9. 2007..Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases... - PPP2R2C, a gene disrupted in autosomal dominant intellectual disabilityLiesbeth Backx
Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
Eur J Med Genet 53:239-43. 2010..The PPP2R2C gene, encoding a subunit of protein phosphatase 2A, has a unique expression pattern in mouse brain that suggests a role in synaptic plasticity and hence learning and memory... - Network analysis of differential expression for the identification of disease-causing genesDaniela Nitsch
Department of Electrical Engineering ESAT SCD Katholieke Universiteit Leuven, Leuven, Belgium
PLoS ONE 4:e5526. 2009..Through a randomization procedure, we rank candidates by p-values. We illustrate our approach on four monogenic diseases and successfully prioritize the known disease causing genes... - X chromosome array-CGH for the identification of novel X-linked mental retardation genesMarijke Bauters
Human Genome Laboratory, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB, Leuven, Belgium
Eur J Med Genet 48:263-75. 2005.... - Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
Hum Genet 121:539-47. 2007..So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low... - Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type"Leen Wouters
Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
Eur J Med Genet 54:236-40. 2011..This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type"... - Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutationHilde Van Esch
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
Eur J Med Genet 52:37-40. 2009..Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before... - Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4Liesbeth Backx
Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium
Eur J Hum Genet 17:378-82. 2009..3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors... - Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndromeHilde Van Esch
Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
Eur J Med Genet 52:153-6. 2009..Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome... - Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosisHilde Van Esch
Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Hum Mol Genet 14:1795-803. 2005..These data confirm the role of VCX-A in the occurrence of MR in XLI patients. Moreover, we propose a VCX/Y teamwork-dependent mechanism for the incidence of mental impairment in XLI patients... - Direct fluorescent labelling of clones by DOP PCRLiesbeth Backx
Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
Mol Cytogenet 1:3. 2008..Unfortunately, labelling of DOP amplified BAC clones by traditional labelling methods resulted in high levels of background... - The Fragile X premutation: new insights and clinical consequencesHilde Van Esch
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium
Eur J Med Genet 49:1-8. 2006..This view was, however, gradually challenged with the description and reports of different premutation-associated clinical phenotypes over the last decade... - Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14Hilde Van Esch
Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
J Med Genet 47:717-20. 2010..7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology... - MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints
Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
Eur J Hum Genet 16:1029-37. 2008.... - Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 76:227-36. 2005..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function... - Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou
Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Eur J Med Genet 50:399-410. 2007.... - Should we screen for FMR1 premutations in female subjects presenting with ataxia?Hilde Van Esch
Ann Neurol 57:932-3. 2005 - Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1Arvid Suls
Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Brain 131:1831-44. 2008.... - Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 75:1149-54. 2004..In view of the overlapping phenotypic spectrum of CDKL5 and MECP2 mutations, it is tempting to speculate that these two genes play a role in a common pathogenic process... - Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiencyAnil K Agarwal
From the Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center, Dallas, TX 75390 9052, USA
J Investig Med 54:208-13. 2006.... - A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid featuresHilde Van Esch
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9052, USA
J Clin Endocrinol Metab 91:517-21. 2006..Thus, arthropathy with tendinous calcifications can be added to the growing list of disorders associated with LMNA mutations... - Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 79:370-7. 2006..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome... - Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 28:207-8. 2007..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers... - Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Hum Mol Genet 16:265-75. 2007.... - Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neuronsKarine Poirier
Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin INSERM U567, Université Paris V 24, rue du Faubourg Saint Jacques, 75014 Paris, France
Brain Res Mol Brain Res 122:35-46. 2004..Moreover, no abnormal cell death or protein aggregation was observed, hence suggesting that more subtle pathogenic mechanisms are involved...