Research Topics
Genomes and GenesSpecies | Joris Robert VermeeschSummaryAffiliation: Katholieke Universiteit Leuven Country: Germany Publications
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Detail Information
Publications
Hepatitis B virus replication causes oxidative stress in HepAD38 liver cellsTamara Severi
Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium
Mol Cell Biochem 290:79-85. 2006..In this HepAD38 model early events (0-4 days) in the host cell after induction of HBV replication can be studied under strictly defined conditions...
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...- Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Eur J Hum Genet 15:1105-14. 2007..Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories... - High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova
Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium
Am J Ophthalmol 151:1087-1094.e45. 2011..The purpose of this study was to evaluate the clinical usefulness of the array comparative genomic hybridization technique for the genetic analysis of patients with congenital ocular malformations... - 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... 
An experimental loop design for the detection of constitutional chromosomal aberrations by array CGHJoke Allemeersch
Microarray Facility, VIB, Leuven, Belgium
BMC Bioinformatics 10:380. 2009..Instead, we apply an experimental loop design that compares three patients in three hybridizations...- Array comparative genomic hybridization as a diagnostic tool for syndromic heart defectsJeroen Breckpot
Center of Human Genetics, University Hospitals Leuven, Leuven, Belgium
J Pediatr 156:810-7, 817.e1-817.e4. 2010..To investigate different aspects of the introduction of array comparative genomic hybridization (aCGH) in clinical practice... - A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
Eur J Hum Genet 16:1050-4. 2008..This finding confirms the contribution of aCGH to gene identification in autosomal recessive disorders... - 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... - Subtelomeric imbalances in phenotypically normal individualsIrina Balikova
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Hum Mutat 28:958-67. 2007.... - Microarray analysis of copy number variation in single cellsPeter Konings
Department of Electrical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium
Nat Protoc 7:281-310. 2012..Additionally, it provides quality assessment, allowing the exclusion of uninterpretable single-cell WGA samples. The protocol takes 5-7 d... - Aneuploidy and copy number variation in early human developmentEvelyne Vanneste
Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, UZ Gasthuisberg, Leuven, Belgium
Semin Reprod Med 30:302-8. 2012..In this review we provide an overview of how this instability of chromosomes arises and evolves during early human embryogenesis... - Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova
Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium
Am J Hum Genet 82:181-7. 2008..This is the first example of an amplified CNV associated with a Mendelian disorder, a discovery that implies that genome screens for genetic disorders should include the analysis of so-called benign CNVs and LCRs... - Diagnosis of miscarriages by molecular karyotyping: benefits and pitfallsCaroline Robberecht
Center for Human Genetics, University Hospital Gasthuisberg, Leuven 3000, Belgium
Genet Med 11:646-54. 2009..However, due to culture failures or maternal contamination often no fetal karyotype can be obtained. Array comparative genomic hybridization can overcome some of these limitations... - Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy lossCaroline Robberecht
Department of Human Genetics, KU Leuven, Leuven, Belgium
Prenat Diagn 32:933-42. 2012..In addition, it is known that aneuploidies account for less than half of recurrent spontaneous abortions. We hypothesized that (recurrent) early pregnancy losses might have other genetic causes... - New array approaches to explore single cells genomesEvelyne Vanneste
Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, Katholieke Universiteit Leuven, Universitair Ziekenhuis Gasthuisberg Leuven, Belgium
Front Genet 3:44. 2012..In this review, we provide an overview of single cell DNA amplification techniques, the different array approaches, and discuss their potential applications to study human embryos... - 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... - Piecing together the problems in diagnosing low-level chromosomal mosaicismCaroline Robberecht
Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium
Genome Med 2:47. 2010..It is, however, not easy to diagnose, as various physical and technical factors complicate its identification... - Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formationElyes Chabchoub
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
J Med Genet 44:250-6. 2007..Broken chromosomes must acquire new telomeric "caps" to be structurally stable. Chromosome healing can be mediated either by telomerase through neo-telomere synthesis or by telomere capture... - Reply to Hochstenbach et al. 'Molecular karyotyping'Joris Robert Vermeesch
Eur J Hum Genet 14:1063-4. 2006 - Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMCThomas Liehr
Institut fur Humangenetik und Anthropologie, D 07740 Jena, Germany
Am J Med Genet A 140:46-51. 2006..1 approximately 12 --> q10::q10 --> p11.1 approximately 12::), respectively. Reversed array CGH using the DNA of the microdissected sSMC as probe confirmed the FISH results and enabled the rapid mapping of the breakpoints... - Genomic organization and evolution of the NF1 microdeletion regionThomas De Raedt
Center of Human Genetics, KULeuven, Herestraat 49, 3000 Louvain, Belgium
Genomics 84:346-60. 2004..This analysis will also help to identify loci potentially involved in the pathogenesis of the increased tumor load and malignancy risk observed in NF1 microdeletion patients...