Joris Andrieux

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. pmc Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    F D Hannes
    Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 46:223-32. 2009
  2. pmc Somatic genomic variations in early human prenatal development
    Caroline Robberecht
    Center for Human Genetics, Leuven, Belgium
    Curr Genomics 11:397-401. 2010
  3. pmc Single-cell chromosomal imbalances detection by array CGH
    Cedric Le Caignec
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Nucleic Acids Res 34:e68. 2006
  4. pmc Chromosomal phenotypes and submicroscopic abnormalities
    Koen Devriendt
    Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Genomics 1:126-33. 2004
  5. pmc A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
    Frenny Sheth
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 2:22. 2009
  6. pmc Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy
    Isabel M Carreira
    Laboratorio de Citogenetica, Instituto de Biologia Médica e Centro de Neurociências e Biologia Celular, Faculdade de Medicina, Universidade de Coimbra, Portugal
    Mol Cytogenet 2:16. 2009
  7. pmc Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:12. 2008
  8. pmc Piecing together the problems in diagnosing low-level chromosomal mosaicism
    Caroline Robberecht
    Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium
    Genome Med 2:47. 2010
  9. 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
  10. pmc An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
    Joke Allemeersch
    Microarray Facility, VIB, Leuven, Belgium
    BMC Bioinformatics 10:380. 2009

Detail Information

Publications55

  1. pmc Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    F D Hannes
    Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 46:223-32. 2009
    ..Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16...
  2. pmc Somatic genomic variations in early human prenatal development
    Caroline Robberecht
    Center for Human Genetics, Leuven, Belgium
    Curr Genomics 11:397-401. 2010
    ..Whereas these rearrangements often lead to implantation failure and early miscarriages, natural selection of the fittest cells in the embryo is the likely mechanism leading to healthy fetuses...
  3. pmc Single-cell chromosomal imbalances detection by array CGH
    Cedric Le Caignec
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Nucleic Acids Res 34:e68. 2006
    ..This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular...
  4. pmc Chromosomal phenotypes and submicroscopic abnormalities
    Koen Devriendt
    Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Genomics 1:126-33. 2004
    ....
  5. pmc A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
    Frenny Sheth
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 2:22. 2009
    ..Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar...
  6. pmc Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy
    Isabel M Carreira
    Laboratorio de Citogenetica, Instituto de Biologia Médica e Centro de Neurociências e Biologia Celular, Faculdade de Medicina, Universidade de Coimbra, Portugal
    Mol Cytogenet 2:16. 2009
    ..To our knowledge, there are only 12 cases reported with partial 3q tetrasomy. Generally, individuals with this genomic imbalance present mild to severe developmental delay, facial dysmorphisms and skin pigmentary disorders...
  7. pmc Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:12. 2008
    ..According to current theories, sSMC would need drive, drift or beneficial effects to increase in frequency in order to become B chromosome. However, up to now no B-chromosomes were described in human...
  8. pmc Piecing together the problems in diagnosing low-level chromosomal mosaicism
    Caroline 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...
  9. 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...
  10. pmc An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
    Joke 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...
  11. ncbi request reprint Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
    Joris R Vermeesch
    Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    J Histochem Cytochem 53:413-22. 2005
    ..We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes...
  12. ncbi request reprint A physical map of the chromosome 12 centromere
    J R Vermeesch
    Center for Human Genetics, University Hospital, Leuven, Belgium
    Cytogenet Genome Res 103:63-73. 2003
    ..This mapping effort localises the different alpha satellite repeats within the pericentromeric region and anchors them in the current maps. The novel sequences identified may serve as the end point for the ongoing sequencing efforts...
  13. pmc Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
    K Devriendt
    Center for Human Genetics, University Hospital Leuven, B 3000 Leuven, Belgium
    Am J Hum Genet 64:1119-26. 1999
    ..Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p...
  14. doi request reprint Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions
    E Vanneste
    Center for Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium
    Hum Reprod 24:1522-8. 2009
    ..However, microdeletions within a single cell can, at present, not be detected by molecular diagnostic methods usually applied for PGD of monogenic disorders...
  15. ncbi request reprint Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 15:293-301. 2004
    ..3 Mb. Comparison with another well documented autistic patient from the literature results in the same conclusion. These findings represent thus a further step towards identifying genes predisposing to autism...
  16. doi request reprint Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
    B I Dimitrov
    Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven 3000, Belgium
    J Med Genet 47:103-11. 2010
    ..Intriguingly a submicroscopic duplication within the critical locus on chromosome 10q24 was associated with the phenotype...
  17. ncbi request reprint The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
    G Van Buggenhout
    Center for Human Genetics, University of Leuven, Heresraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 48:276-89. 2005
    ..A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes...
  18. ncbi request reprint Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation
    T J L de Ravel
    Centre for Human Genetics, UZ Gasthuisberg, Leuven, Belgium
    Cytogenet Genome Res 115:225-30. 2006
    ....
  19. ncbi request reprint De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 16:1-15. 2005
    ..Clinical and chromosomal findings in this patient are compared to those previously recorded in similarly investigated patients from the literature with terminal 7q deletion...
  20. ncbi request reprint Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
    N M C Maas
    Center for Human Genetics, University Hospital, Catholic University of Leuven, Leuven, Belgium
    J Med Genet 45:71-80. 2008
    ..Large variation is observed in phenotypic expression of these features. In order to compare the phenotype with the genotype, we localised the breakpoints of the 4 pter aberrations using a chromosome 4 specific tiling BAC/PAC array...
  21. doi request reprint Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
    I Balikova
    Centre for Human Genetics, University Hospitals Leuven, K U Leuven, Leuven, Belgium
    Hum Mutat 30:E845-54. 2009
    ....
  22. ncbi request reprint The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random
    N M C Maas
    Centre for Human Genetics, University Hospital, Catholic University of Leuven, Leuven, Belgium
    Genet Couns 18:357-65. 2007
    ..In these three cases, the translocation breakpoint at the reciprocal chromosome did not contain ORGC sequences. We conclude that only the t(4;8) is mediated by NAHR between ORGC...
  23. ncbi request reprint Partial monosomy 11q and trisomy 12q: variable expression in two siblings
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 14:155-64. 2003
    ..The possible contribution of each of the two aneusomies to the phenotype is discussed...
  24. ncbi request reprint A familial complex chromosome translocation resulting in duplication of 6p25
    J R Vermeesch
    Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium
    Ann Genet 47:275-80. 2004
    ..This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported...
  25. doi request reprint PGD for a complex chromosomal rearrangement by array comparative genomic hybridization
    E Vanneste
    Center for Human Genetics, UZ Gasthuisberg, 3000 Leuven, Belgium
    Hum Reprod 26:941-9. 2011
    ..Our findings also demonstrate that the genomic constitution of extra-embryonic tissue cannot necessarily be predicted from the copy number status of a single blastomere...
  26. ncbi request reprint Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus
    E Chabchoub
    Centre for Human Genetics, Hospitals of Leuven, Leuven, Belgium
    Genet Couns 21:35-40. 2010
    ..To our knowledge, this is the smallest 3p duplication encompassing the VHL region. Its prognosis is unknown and a long-term follow-up is essential for an early diagnosis of malignancy...
  27. ncbi request reprint Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
    T J L de Ravel
    Center for Human Genetics, University of Leuven, Belgium
    Am J Med Genet A 124:259-62. 2004
    ..The karyotypic male, phenotypic female had a dysgerminoma of the left dysplastic ovary. The patient had typical 'trisomy 9p' syndrome, and we propose that the critical region for this phenotype is located between 9p22.1 and 9p22.2...
  28. ncbi request reprint De novo interstitial tandem duplication of chromosome 20p12.1p13
    T J L de Ravel
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Med Genet A 117:76-9. 2003
    ..We report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation...
  29. ncbi request reprint Preimplantation genetic diagnosis for an insertional translocation carrier
    C Melotte
    Center for Human Genetics and Leuven University Fertility Center, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Reprod 19:2777-83. 2004
    ..Due to the possibility of crossovers within the inserted region, rather than a single probe, four probes are required for proper embryo selection...
  30. doi request reprint Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects
    J Breckpot
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Cytogenet Genome Res 135:251-9. 2011
    ....
  31. ncbi request reprint Array painting using microdissected chromosomes to map chromosomal breakpoints
    L Backx
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Cytogenet Genome Res 116:158-66. 2007
    ..We illustrate the potential of the technique by molecularly delineating the breakpoints in five small supernumerary marker chromosomes (sSMC) and mapping the breakpoints of five different chromosomal translocations...
  32. doi request reprint Benign and pathogenic copy number variation on the short arm of chromosome 4
    F Hannes
    Centre for Human Genetics, University Hospital, K U Leuven, Leuven, Belgium
    Cytogenet Genome Res 123:88-93. 2008
    ..In addition, we show how the collection of both phenotypes and genotypes of 4p terminal deletions is leading towards the genetic dissection of the Wolf-Hirschhorn syndrome...
  33. doi request reprint The human cleavage stage embryo is a cradle of chromosomal rearrangements
    T Voet
    Center for Human Genetics, Katholieke Universiteit Leuven UZ Gasthuisberg, Leuven, Belgium
    Cytogenet Genome Res 133:160-8. 2011
    ..In this review, the structural instability of chromosomes during human cleavage stage embryogenesis is catalogued, channeled into etiologic models and linked to genomic profiles of healthy and diseased newborns...
  34. ncbi request reprint Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22(1)
    P P Van Veldhoven
    Katholoeke Universiteit Leuven, Departement Moleculaire Celbiologie, Leuven, Belgium
    Biochim Biophys Acta 1487:128-34. 2000
    ..Northern analysis showed the presence of rare large-sized mRNAs of 6.7, 5.8 and 4 kb and the highest expression in liver. By fluorescent in situ hybridization, the gene was mapped to chromosome 10q22...
  35. ncbi request reprint Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences
    J R Vermeesch
    Center for Human Genetics, University of Leuven, Belgium
    Clin Genet 62:415-7. 2002
    ....
  36. ncbi request reprint Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization
    J R Vermeesch
    Center for Human Genetics, University of Leuven, Belgium
    Genomics 25:327-9. 1995
  37. ncbi request reprint The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y
    J R Vermeesch
    Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Belgium
    Hum Mol Genet 6:1-8. 1997
    ..The evolutionary analysis of the IL9R gene, which is located at 10 kb from the telomere, and its pseudogenes at several telomeres, also provides insight into the evolution of these loci and of subtelomeric regions in general...
  38. ncbi request reprint Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis
    T Lukusa
    Center for Human Genetics, Catholic University of Leuven, Belgium
    Genet Couns 13:417-25. 2002
    ....
  39. ncbi request reprint Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia
    C Graux
    Department of Human Genetics, University of Leuven, Leuven, Belgium
    Nat Genet 36:1084-9. 2004
    ..NUP214-ABL1 expression defines a new subgroup of individuals with T-ALL who could benefit from treatment with imatinib...
  40. ncbi request reprint Terminal 2q37 deletion and autistic behaviour
    T Lukusa
    Genet Couns 16:179-80. 2005
  41. ncbi request reprint Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly
    E Chabchoub
    Clin Genet 70:535-7. 2006
  42. pmc Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
    B Menten
    Centre for Medical Genetics, Ghent University, Ghent, Belgium
    J Med Genet 43:625-33. 2006
    ..Previous array CGH studies on selected patients with chromosomal phenotypes and normal karyotypes suggested an incidence of 10-15% of previously unnoticed de novo chromosomal imbalances...
  43. ncbi request reprint The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter
    A Kermouni
    Ludwig Institute for Cancer Research, Brussels Branch, Belgium
    Genomics 29:371-82. 1995
    ..3, and 18p11.3, probably dispersed as the result of translocations during evolution...
  44. pmc Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
    G Van Buggenhout
    J Med Genet 41:691-8. 2004
  45. ncbi request reprint Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1
    I Witters
    Prenat Diagn 22:831-4. 2002
  46. ncbi request reprint Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1
    G E Utine
    Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey
    Genet Couns 16:407-12. 2005
    ..Involvement of 9q22.2-q31.1 seems to be sufficient to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented...
  47. pmc Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
    J R Vermeesch
    J Med Genet 40:e93. 2003
  48. ncbi request reprint Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q
    N Maas
    Genet Couns 17:477-9. 2006
  49. pmc Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
    M de Gregori
    Biologia Generale e Genetica Medica, Universitè di Pavia, Pavia, Italy
    J Med Genet 44:750-62. 2007
    ....
  50. pmc Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant
    J R Vermeesch
    J Med Genet 39:e72. 2002
  51. ncbi request reprint Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Cytogenet Genome Res 112:23-34. 2006
    ..Based on analysis of these cases we present the first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13...
  52. doi request reprint The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15
    E Chabchoub
    J Med Genet 45:189-92. 2008
  53. ncbi request reprint Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23)
    B Dimitrov
    University Pediatric Hospital, Clinical Genetics Unit, Department of Pediatrics, Medical University Sofia, Bulgaria
    Genet Couns 15:191-7. 2004
    ....
  54. ncbi request reprint Partial trisomy 3p/monosomy 9p with sex reversal
    I Witters
    Ultrasound Obstet Gynecol 23:418-9. 2004
  55. ncbi request reprint The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping
    D Novikov
    Katholieke Universiteit Leuven, Campus Gasthuisberg, Departement Moleculaire Celbiologie, Afdeling Farmacologie, Belgium
    Biochim Biophys Acta 1360:229-40. 1997
    ..The gene coding for MFP-2 was mapped to chromosome 5q2.3...