Frank Speleman

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. pmc Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital 1K5, De Pintelaan 185, B 9000 Ghent, Belgium
    Genome Biol 3:RESEARCH0034. 2002
  2. ncbi request reprint Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma
    F Speleman
    Department of Medical Genetics, University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 21:265-9. 1998
  3. ncbi request reprint Malignant melanoma of the soft parts (clear-cell sarcoma): confirmation of EWS and ATF-1 gene fusion caused by a t(12;22) translocation
    F Speleman
    Department of Medical Genetics, University Hospital, Ghent, Belgium
    Mod Pathol 10:496-9. 1997
  4. pmc Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital 1K5, De Pintelaan 185, 9000 Gent, Belgium
    BMC Genomics 5:11. 2004
  5. ncbi request reprint High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 120:533-8. 2007
  6. pmc Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 44:264-8. 2007
  7. pmc Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, MRB 2nd floor, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Genomics 6:97. 2005
  8. pmc Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines
    An De Weer
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 5:e8676. 2010
  9. pmc CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23
    Evi Michels
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    BMC Cancer 8:173. 2008
  10. pmc A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes
    Karl Vandepoele
    Department for Molecular Biomedical Research, VIB, Ghent, Belgium
    PLoS ONE 3:e2207. 2008

Detail Information

Publications120 found, 100 shown here

  1. pmc Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital 1K5, De Pintelaan 185, B 9000 Ghent, Belgium
    Genome Biol 3:RESEARCH0034. 2002
    ....
  2. ncbi request reprint Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma
    F Speleman
    Department of Medical Genetics, University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 21:265-9. 1998
    ..Duplication and loss of imprinting of genes at 11p15 has also been observed frequently in Wilms' tumor. We therefore propose that CMN and Wilms' tumor might share common genetic pathways...
  3. ncbi request reprint Malignant melanoma of the soft parts (clear-cell sarcoma): confirmation of EWS and ATF-1 gene fusion caused by a t(12;22) translocation
    F Speleman
    Department of Medical Genetics, University Hospital, Ghent, Belgium
    Mod Pathol 10:496-9. 1997
    ..This particular genetic aberration, therefore, serves as a strong diagnostic marker for MMSP. We conclude that detection of the t(12;22) by cytogenetic or molecular analysis is useful in establishing or confirming the diagnosis of MMSP...
  4. pmc Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital 1K5, De Pintelaan 185, 9000 Gent, Belgium
    BMC Genomics 5:11. 2004
    ..In this study, we outline a straightforward and efficient strategy for fast and comprehensive cloning of amplified and overexpressed genes...
  5. ncbi request reprint High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 120:533-8. 2007
    ..3 in more frequent tumors including lung and breast cancer. As such, similar tumor suppressor genes may play a critical role in development or progression of a variety of neoplasms, including neuroblastoma...
  6. pmc Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 44:264-8. 2007
    ..The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities...
  7. pmc Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, MRB 2nd floor, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Genomics 6:97. 2005
    ..We decided to further exploit this model system as a means to identify candidate tumour suppressor or differentiation genes located on chromosome 11...
  8. pmc Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines
    An De Weer
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 5:e8676. 2010
    ..33 Mb on chromosome bands 7q35-q36 comprising nine genes in EVI1 deregulated cell lines. These findings open the way to further studies aimed at identifying the culprit EVI1 implicated tumour suppressor genes on 7q...
  9. pmc CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23
    Evi Michels
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    BMC Cancer 8:173. 2008
    ..Despite intensive mapping efforts to localize the culprit 11q tumour suppressor gene, this search has been unsuccessful thus far as no sufficiently small critical region could be delineated for selection of candidate genes...
  10. pmc A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes
    Karl Vandepoele
    Department for Molecular Biomedical Research, VIB, Ghent, Belgium
    PLoS ONE 3:e2207. 2008
    ..The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types...
  11. doi request reprint Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
    Annelies Fieuw
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 130:2599-606. 2012
    ....
  12. pmc methBLAST and methPrimerDB: web-tools for PCR based methylation analysis
    Filip Pattyn
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    BMC Bioinformatics 7:496. 2006
    ..Consequently, standard BLAST sequence homology searches cannot be applied to search for specific methylation primers...
  13. doi request reprint Comparison of miRNA profiles of microdissected Hodgkin/Reed-Sternberg cells and Hodgkin cell lines versus CD77+ B-cells reveals a distinct subset of differentially expressed miRNAs
    Pieter Van Vlierberghe
    Centre for Medical Genetics CMGG, Ghent University Hospital, Ghent, Belgium
    Br J Haematol 147:686-90. 2009
    ..Our data suggest that miRNAs are implicated in the pathogenesis of Hodgkin lymphoma and prompt further investigations concerning their role in cHL...
  14. ncbi request reprint Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
    Ophélia Maertens
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 27:1030-40. 2006
    ..41/81). Differences in somatic inactivation mechanism might therefore exist between NF1 microdeletion patients and the general NF1 population...
  15. pmc Cancer gene prioritization for targeted resequencing using FitSNP scores
    Annelies Fieuw
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 7:e31333. 2012
    ..In this study, a successful strategy for prioritizing candidate genes for targeted resequencing of cancer genomes is presented...
  16. ncbi request reprint Real-time quantitative PCR as an alternative to Southern blot or fluorescence in situ hybridization for detection of gene copy number changes
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Methods Mol Biol 353:205-26. 2007
    ..We illustrate the approach by describing a validated assay for the detection of germline VHL exon deletions and for determination of MYCN copy numbers in tumor samples...
  17. doi request reprint Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Cancer Invest 27:857-68. 2009
    ..To provide functional support for the implication of 3p tumor suppressor genes in this childhood malignancy, we performed a microcell-mediated chromosome 3 transfer in neuroblastoma cells...
  18. doi request reprint The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Eur J Med Genet 52:101-7. 2009
    ....
  19. ncbi request reprint EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements
    Bruce Poppe
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 45:349-56. 2006
    ..Our results underscore the feasibility of FISH as an adjunct to PCR for the identification of EVI1 deranged leukemias and identified EVI1 as the principal transcript expressed in these malignancies...
  20. ncbi request reprint The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 119:624-9. 2006
    ....
  21. doi request reprint EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22
    An De Weer
    Centre for Medical Genetics Gent, Ghent University Hospital, Ghent, Belgium
    Haematologica 93:1903-7. 2008
    ..In keeping with findings in other recurrent 3q26 rearrangements, overexpression of the EVI1 gene appears to be the major contributor to leukemogenesis in patients with a t(3;17)...
  22. doi request reprint Aberrant methylation of candidate tumor suppressor genes in neuroblastoma
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Cancer Lett 273:336-46. 2009
    ....
  23. ncbi request reprint ArrayCGH-based classification of neuroblastoma into genomic subgroups
    Evi Michels
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 46:1098-108. 2007
    ..Further multicentric studies on large tumor series are warranted in order to improve therapeutic stratification in conjunction with other features such as age at diagnosis, tumor stage, and gene expression signatures...
  24. ncbi request reprint A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines
    Tom Feys
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Haematologica 92:913-20. 2007
    ..In cHL, the HRS cells constitute less than 1% of the tumor volume; consequently the profile of genetic aberrations in cHL is still poorly understood...
  25. pmc Focal DNA copy number changes in neuroblastoma target MYCN regulated genes
    Candy Kumps
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 8:e52321. 2013
    ....
  26. ncbi request reprint Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations
    Ophélia Maertens
    Center for Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Anal Biochem 359:144-6. 2006
  27. ncbi request reprint Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
    Bjorn Menten
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Eur J Med Genet 48:301-9. 2005
    ..This study confirms the power of array CGH in the detection of subtle or submicroscopic chromosomal changes...
  28. doi request reprint Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastoma
    Sara De Brouwer
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 130:2591-8. 2012
    ..The strict MYCN-mediated regulation of DKK3 is suggestive for an important downstream function of the MYCN protein and thus warrants further investigations to unravel the role of DKK3 in NB...
  29. doi request reprint miRNA expression profiling enables risk stratification in archived and fresh neuroblastoma tumor samples
    Katleen De Preter
    Center for Medical Genetics Department of Paediatric Hematology and Oncology, Ghent University Hospital, Ghent, Belgium
    Clin Cancer Res 17:7684-92. 2011
    ..In this study, we aimed to establish and validate a prognostic miRNA signature for children with NB and tested it in both fresh frozen and archived formalin-fixed paraffin-embedded (FFPE) samples...
  30. ncbi request reprint A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution
    Karl Vandepoele
    Department for Molecular Biomedical Research, VIB Ghent University, Ghent, Belgium
    Mol Biol Evol 22:2265-74. 2005
    ..Overall, this novel NBPF family reflects the continuous evolution of primate genomes that resulted in large physiological differences, and its potential role in this process is discussed...
  31. doi request reprint Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Eur J Med Genet 52:398-403. 2009
    ..Among the clinically relevant CNVs were 11 single-gene aberrations, highlighting the power of high-resolution molecular karyotyping to identify causal genes...
  32. pmc The microRNA body map: dissecting microRNA function through integrative genomics
    Pieter Mestdagh
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium and Life Technologies, Foster City, CA, USA
    Nucleic Acids Res 39:e136. 2011
    ..The miRNA bodymap project provides users with a single one-stop data-mining solution and has great potential to become a community resource...
  33. doi request reprint Meta-mining of neuroblastoma and neuroblast gene expression profiles reveals candidate therapeutic compounds
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Clin Cancer Res 15:3690-6. 2009
    ..In this study, we aimed to identify new treatment options for neuroblastoma based on integrative genomic analysis...
  34. pmc Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
    Ophélia Maertens
    Center for Medical Genetics, Department of Dermatology, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 81:243-51. 2007
    ....
  35. ncbi request reprint Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma
    Mireille Van Gele
    Center for Medical Genetics, Ghent University Hospital, Ghent B 9000, Belgium
    Oncogene 23:2732-42. 2004
    ..Real-time quantitative RT-PCR analysis of these genes on 26 additional MCC and SCLC samples confirmed their diagnostic classification potential, opening opportunities for new investigations into these aggressive cancers...
  36. pmc External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data
    Joelle Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Nucleic Acids Res 37:e138. 2009
    ....
  37. ncbi request reprint methGraph: a genome visualization tool for PCR-based methylation assays
    Steve Lefever
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Epigenetics 5:159-63. 2010
    ..The generated high-quality figures can easily be customized and exported for use in publications or presentations. methGraph is available at http://mellfire.ugent.be/methgraph/...
  38. ncbi request reprint Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1
    Nadine Van Roy
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 45:107-17. 2006
    ..Furthermore, it illustrates the power of presently available tools for detailed analysis of the complex rearrangements that accompany amplicon formation...
  39. pmc EVI1 activation in blast crisis CML due to juxtaposition to the rare 17q22 partner region as part of a 4-way variant translocation t(9;22)
    An De Weer
    Centre for Medical Genetics Gent CMGG, Ghent University Hospital, Ghent, Belgium
    BMC Cancer 8:193. 2008
    ..Here, we report on a CML patient in blast crisis presenting with a four-way variant t(9;22) rearrangement involving the EVI1 locus...
  40. doi request reprint Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification
    Sara De Brouwer
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Clin Cancer Res 16:4353-62. 2010
    ..We carried out a meta-analysis of 709 neuroblastoma tumors to determine their frequency and mutation spectrum in relation to genomic and clinical parameters, and studied the prognostic significance of ALK copy number and expression...
  41. pmc RTPrimerDB: the real-time PCR primer and probe database, major update 2006
    Filip Pattyn
    Center for Medical Genetics Ghent CMGG, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Nucleic Acids Res 34:D684-8. 2006
    ....
  42. ncbi request reprint Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 122:1177-82. 2008
    ..e. a region on 17q21.32 immediately distal to the most distal breakpoint (in cases with single regions of gain) and 17q24.1, a region coinciding with breakpoints leading to superimposed gain...
  43. pmc N-cadherin in neuroblastoma disease: expression and clinical significance
    Tim Lammens
    Department of Pediatric Hematology Oncology, Ghent University Hospital, Ghent, Belgium
    PLoS ONE 7:e31206. 2012
    ..Our results suggest that N-cadherin signaling may play a role in neuroblastoma disease, marking involvement of metastasis and determining neuroblastoma cell viability...
  44. doi request reprint Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 146:1330-4. 2008
    ..3. The deletion enabled us to define a critical region for the following features of the del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, and behavioral problems...
  45. doi request reprint Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53
    Tom Van Maerken
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Natl Cancer Inst 101:1562-74. 2009
    ..Mutational inactivation of p53 is rare in neuroblastoma tumors at diagnosis and occurs in only a subset of multidrug-resistant neuroblastomas...
  46. pmc Positional gene enrichment analysis of gene sets for high-resolution identification of overrepresented chromosomal regions
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Nucleic Acids Res 36:e43. 2008
    ..esat.kuleuven.be/~bioiuser/pge). We validated PGE on published lists of differentially expressed genes. These analyses showed significant overrepresentation of known aberrant chromosomal regions...
  47. pmc High-throughput stem-loop RT-qPCR miRNA expression profiling using minute amounts of input RNA
    Pieter Mestdagh
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nucleic Acids Res 36:e143. 2008
    ..The high specificity of RT-qPCR together with a superior sensitivity makes this approach the method of choice for high-throughput miRNA expression profiling...
  48. pmc Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Med Genet 50:446-54. 2007
    ..3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband...
  49. ncbi request reprint Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells
    Katleen De Preter
    Department of Medical Genetics, Ghent University Hospital, 1K5, De Pintelaan 185, B 9000 Ghent, Belgium
    Cancer Lett 197:53-61. 2003
    ....
  50. ncbi request reprint Detection of DNA copy number alterations in cancer by array comparative genomic hybridization
    Evi Michels
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genet Med 9:574-84. 2007
    ..A third section highlights the potential of sensitive genome-wide detection of patterns of DNA imbalances or molecular portraits for class discovery and therapeutic stratification...
  51. ncbi request reprint PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements
    Bruce Poppe
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 44:218-23. 2005
    ..In addition, the recurrent incidence of this rearrangement in both HRTR-BCL (4 cases) and PTLD-DLBCL (2 cases) was previously unrecognized and is intriguing...
  52. doi request reprint Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist nutlin-3
    Tom Van Maerken
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Mol Cancer Ther 10:983-93. 2011
    ..These insights may prove useful for the clinical translation of evolving strategies aimed at p53 reactivation and for the development of new therapeutic approaches...
  53. doi request reprint Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization
    Mado Vandewoestyne
    Faculty of Pharmaceutical Sciences, Laboratory of Pharmaceutical Biotechnology, Ghent University, Ghent, Belgium
    Int J Cancer 130:1098-108. 2012
    ..Moreover, we demonstrate that for archived material, for example, for retrospective studies, LCM is the method of choice, while for fresh bone marrow aspirates, acquired at the time of diagnosis, MACS is superior...
  54. pmc A novel and universal method for microRNA RT-qPCR data normalization
    Pieter Mestdagh
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent, Belgium
    Genome Biol 10:R64. 2009
    ..We demonstrate that the mean expression value outperforms the current normalization strategy in terms of better reduction of technical variation and more accurate appreciation of biological changes...
  55. doi request reprint Unusual 8p inverted duplication deletion with telomere capture from 8q
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Eur J Med Genet 52:31-6. 2009
    ..We describe the molecular characterization by FISH and array CGH of this unusual inv dup del (8p) and a previously reported patient with a similar 8q duplication and review the literature on cases associated with telomere capture...
  56. doi request reprint Low-cost dedicated mini-arrays for high-throughput analysis of DNA copy-number alterations in neuroblastoma
    Katleen De Preter
    Center for Medical Genetics Ghent, Ghent University Hospital, 2nd Floor, Room 120 038, De Pintelaan 185, MRB2, 9000 Ghent, Belgium
    Cancer Lett 269:111-6. 2008
    ..The mini-arrays were validated on neuroblastoma samples and comparison with high-resolution whole-genome arrayCGH data yielded complete concordant results...
  57. ncbi request reprint ID2 expression in neuroblastoma does not correlate to MYCN levels and lacks prognostic value
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Oncogene 22:456-60. 2003
    ..Importantly, we could not confirm the reported prognostic power of ID2-expression in neuroblastoma. These data, obtained in two independent laboratories, challenge the previously proposed ID2-MYCN relation...
  58. pmc Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan, B 9000 Ghent, Belgium
    Genome Biol 7:R84. 2006
    ..This study provides the first genome-wide mRNA expression profile of these human fetal sympathetic neuroblasts. To this purpose, small islets of normal neuroblasts were isolated by laser microdissection from human fetal adrenal glands...
  59. pmc arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Bioinformatics 6:124. 2005
    ..One of the challenges inherent to this new technology is the management and analysis of large numbers of data points generated in each individual experiment...
  60. ncbi request reprint Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints
    Stefan Vermeulen
    Center for Medical Genetics, Ghent University Hospital 0K5, De Pintelaan 185, 9000 Ghent, Belgium
    Am J Med Genet A 124:10-8. 2004
    ..The other patient had a breakpoint more proximal to this region. The present data together with these from the literature provide evidence that a region within 7q21.11 may be prone to breakage and formation of CCRs...
  61. ncbi request reprint An interstitial deletion of chromosome 7 at band q21: a case report and review
    Winnie Courtens
    Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
    Am J Med Genet A 134:12-23. 2005
    ..Therefore, 7q21 might be considered a candidate chromosomal region for matUPD(7) and SRS...
  62. ncbi request reprint Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma
    Mireille Van Gele
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 101:137-45. 2002
    ..We provid a detailed description of chromosomal translocations occurring in MCC that could be useful to direct future intensive investigation of these chromosomal regions...
  63. pmc qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan, B 9000 Ghent, Belgium
    Genome Biol 8:R19. 2007
    ..These models and algorithms are implemented in qBase, a free program for the management and automated analysis of qPCR data...
  64. ncbi request reprint Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma
    Jo Vandesompele
    Center for Medical Genetics Ghent CMGG, Ghent University Hospital, MRB, De Pintelaan 185, B 9000 Ghent, Belgium
    J Clin Oncol 23:2280-99. 2005
    ..In this study, we aimed for comprehensive genetic subgroup discovery and assessment of independent prognostic markers based on genome-wide aberrations detected by comparative genomic hybridization (CGH)...
  65. ncbi request reprint Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type 1 pat
    Nadine Van Roy
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Genes Chromosomes Cancer 35:113-20. 2002
    ....
  66. ncbi request reprint Small-molecule MDM2 antagonists as a new therapy concept for neuroblastoma
    Tom Van Maerken
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Cancer Res 66:9646-55. 2006
    ..The observed treatment effects without the need of imposing a genotoxic burden suggest that selective MDM2 antagonists might be beneficial for treatment of neuroblastoma patients with and without MYCN amplification...
  67. doi request reprint EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells
    An De Weer
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Br J Haematol 154:337-48. 2011
    ..This EVI1-MIR449A-NOTCH1/BCL2 regulatory axis might open new possibilities for the development of therapeutic strategies in this poor prognostic leukaemia subgroup...
  68. doi request reprint Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 152:2802-4. 2010
    ..1456G>A in exon 9 on the other allele. Our findings illustrate the power of higher resolution array CGH studies and highlight the importance of considering copy number variations in autosomal recessive diseases...
  69. pmc Measurable impact of RNA quality on gene expression results from quantitative PCR
    Joelle Vermeulen
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Nucleic Acids Res 39:e63. 2011
    ..This study forms the basis for further rational assessment of reverse transcription quantitative PCR based results in relation to RNA quality...
  70. ncbi request reprint Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors
    Nadine Van Roy
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Cancer Genet Cytogenet 143:120-4. 2003
    ..These findings together with data from the literature suggest that loss of a tumor suppressor gene located within distal 1p is implicated in the pathogenesis of MPNST...
  71. pmc No evidence for involvement of SDHD in neuroblastoma pathogenesis
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, K5, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Cancer 4:55. 2004
    ..In this study, we sought for evidence for involvement of SDHD in neuroblastoma...
  72. ncbi request reprint HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS
    Bruce Poppe
    Center for Medical Genetics, University Hospital Ghent 1K5, De Pintelaan 185, Getnt B 9000, Belgium
    Cancer Genet Cytogenet 162:82-4. 2005
    ..Our findings suggest a causal role for HOXA genes in childhood myelodysplasia and warrant investigation of this locus in a larger series of patients...
  73. pmc Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study
    Joelle Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lancet Oncol 10:663-71. 2009
    ..More accurate prognostic assessment of patients with neuroblastoma is required to better inform the choice of risk-related therapy. The aim of this study is to develop and validate a gene-expression signature to improve outcome prediction...
  74. doi request reprint Accurate outcome prediction in neuroblastoma across independent data sets using a multigene signature
    Katleen De Preter
    Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium
    Clin Cancer Res 16:1532-41. 2010
    ..Although numerous studies have shown that outcome might be predicted using gene expression signatures, independent cross-platform validation is often lacking...
  75. pmc Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    BMC Med Genet 10:89. 2009
    ..In this study we evaluated the combined use of array CGH and flow cytometry (FCM), for detection of chromosomal abnormalities, as an alternative for karyotyping...
  76. ncbi request reprint Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia
    H Van Limbergen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Leukemia 16:344-51. 2002
    ..Review of the literature showed that all cases were the result of an inversion of either 10p or 11q followed by translocation 10p;11q or insertion of the inverted segment into MLLT10 or MLL...
  77. ncbi request reprint Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
    Stefan Vermeulen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet 108:315-8. 2002
    ..2. The simultaneous occurrence of congenital spherocytosis, Kallmann syndrome phenotype, dysmorphic features, and growth delay in this patient points to a new contiguous gene syndrome...
  78. ncbi request reprint Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    L M Messiaen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 15:541-55. 2000
    ..We found a high frequency of unusual splice mutations outside of the AG/GT 5 cent and 3 cent splice sites. As some of these mutations form stable transcripts, it remains possible that a truncated neurofibromin is formed...
  79. ncbi request reprint Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Anal Biochem 303:95-8. 2002
  80. ncbi request reprint Multicentre analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are there?
    J Vandesompele
    Department of Medical Genetics, Ghent University Hospital, Belgium
    Med Pediatr Oncol 36:5-10. 2001
    ..The fourth group has 1p deletion or MNA, and finally, a fifth group shows 11q loss without 1p deletion or MNA, and is found mainly in stage 4 tumors. The latter group is significantly associated with losses of 3p, 4p, and 14q...
  81. ncbi request reprint Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
    Stefan J Vermeulen
    Center for Medical Genetics, 0K5, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 13:52-8. 2005
    ....
  82. ncbi request reprint Impact of RNA quality on reference gene expression stability
    Claudina Angela Perez-Novo
    Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium
    Biotechniques 39:52, 54, 56. 2005
  83. ncbi request reprint Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
    Ilse Gantois
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
    Neurobiol Dis 21:346-57. 2006
    ..We consider their differential expression as provisional. It is possible that these differentially expressed genes play an important role in the cognitive and behavioral problems observed in the fragile X syndrome...
  84. ncbi request reprint Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH
    Heidi Van Limbergen
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Genes Chromosomes Cancer 33:60-72. 2002
    ....
  85. ncbi request reprint Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers
    G Laureys
    Department of Pediatric Oncology, University Hospital, Ghent, Belgium
    Oncogene 10:1087-93. 1995
    ..As a pivotal step towards breakpoint cloning, at present these flanking markers optimally delineate the breakpoint regions of both chromosomes 1 and 17 at the molecular level...
  86. ncbi request reprint Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma
    M Van Gele
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 92:409-13. 2001
    ..These data suggest that either alternative mechanisms lead to inactivation of the PTEN gene or that other tumor-suppressor genes at chromosome 10 are implicated in the development of MCC...
  87. ncbi request reprint Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization
    E De Baere
    Department of Medical Genetics, University Hospital, Ghent Belgium
    Cytogenet Cell Genet 82:226-7. 1998
  88. ncbi request reprint Genome wide measurement of DNA copy number changes in neuroblastoma: dissecting amplicons and mapping losses, gains and breakpoints
    E Michels
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Cytogenet Genome Res 115:273-82. 2006
    ..Furthermore, in conjunction with cytogenetic findings, array CGH allows the mapping of breakpoints of unbalanced translocations at a very high resolution...
  89. ncbi request reprint A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias
    F Speleman
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Leukemia 19:358-66. 2005
    ..Finally, our observation also supports the previous suggested role of HOXA10 and HOXA11 in normal thymocyte development...
  90. ncbi request reprint Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies
    B Poppe
    Center for Medical Genetics, De Pintelaan 185, B-9000 Gent, Belgium
    Cancer Genet Cytogenet 128:39-42. 2001
    ....
  91. ncbi request reprint Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25-->q26.1 by in situ hybridization
    E De Baere
    Department of Medical Genetics, University Hospital, Ghent Belgium
    Cytogenet Cell Genet 82:228-9. 1998
  92. ncbi request reprint Refined physical mapping and genomic structure of the EXTL1 gene
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Belgium
    Cytogenet Cell Genet 86:267-70. 1999
    ..In addition, we determined the genomic structure of the EXTL1 gene, revealing that the EXTL1 coding sequence spans 11 exons within a 50-kb region...
  93. ncbi request reprint Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines
    N van Roy
    Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Genes Chromosomes Cancer 32:126-35. 2001
    ..We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the investigated cell lines...
  94. ncbi request reprint i(12p) in a malignant ovarian tumor
    F Speleman
    Department of Medical Genetics, University Hospital Gent, Belgium
    Cancer Genet Cytogenet 45:49-53. 1990
    ..This report indicates that further investigation is necessary to establish the role of the i(12p) marker in the pathogenesis of germ cell tumors also in females...
  95. ncbi request reprint Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization
    E De Baere
    Department of Medical Genetics, University Hospital, Ghent, Belgium
    Cytogenet Cell Genet 83:240-1. 1998
  96. ncbi request reprint Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRbeta locus rearrangements and putative new T-cell oncogenes
    B Cauwelier
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Leukemia 20:1238-44. 2006
    ....
  97. ncbi request reprint Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nat Genet 36:1213-8. 2004
    ..XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells...
  98. ncbi request reprint Rapid detection of VHL exon deletions using real-time quantitative PCR
    Jasmien Hoebeeck
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lab Invest 85:24-33. 2005
    ..5 h), accurate and sensitive (ng amount of input DNA) exon deletion screening in routine DNA diagnosis of VHL disease. Similar assays can be designed for deletion screening in other genetic disorders...
  99. ncbi request reprint Novel cryptic chromosomal rearrangements in childhood acute lymphoblastic leukemia detected by multiple color fluorescent in situ hybridization
    Bruce Poppe
    Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, B 9000 Ghent, Belgium
    Haematologica 90:1179-85. 2005
    ..Detailed karyotyping can be further hampered by the presence of multiple rearrangements. Our objective was to search for cryptic rearrangements in childhood ALL...
  100. ncbi request reprint Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
    Ophélia Maertens
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mol Genet 15:1015-23. 2006
    ..In conclusion, we report for the first time the molecular pathogenesis of GISTs in NF1 individuals and demonstrate that this type of tumor clearly belongs to the spectrum of clinical symptoms in NF1...
  101. ncbi request reprint Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
    B Cauwelier
    Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Leukemia 21:121-8. 2007
    ..In conclusion, this study defines TCRbeta-HOXA rearranged T-ALLs as a distinct cytogenetic subgroup by clinical, immunophenotypical and molecular genetic characteristics...