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Genomes and Genes | W WuytsSummaryAffiliation: University of Antwerp Country: Belgium Publications
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Publications
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas familiesIvy Jennes
Department of Medical Genetics, University and University Hospital of Antwerp, 2650 Edegem, Belgium
BMC Med Genet 12:85. 2011..MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases...- CNV-WebStore: online CNV analysis, storage and interpretationGeert Vandeweyer
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
BMC Bioinformatics 12:4. 2011.... 
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromasW Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Clin Genet 68:542-7. 2005..The protocol described here, therefore, provides a sensitive and cost-sparing alternative for direct sequencing analysis of the MO-causing genes...- Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
Am J Med Genet A 135:66-8. 2005..However, in our patient, the mutation was transmitted by the mother who showed somatic and germline mosaicism without HGP manifestations... - Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 geneWim Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Am J Med Genet A 133:82-4. 2005..We describe a male patient with myopathy and absent muscle PhK activity caused by a frameshift mutation in the gene encoding the alpha subunit of PhK on chromosome Xq12-q13... - Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene familyW Van Hul
Department of Medical Genetics, University of Antwerp, Belgium
Genomics 47:230-7. 1998..In view of its putative tumor suppressor function, the EXTL3 gene can be considered a candidate gene for the breast cancer locus on chromosome 8p12-p22... - Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem diseaseW Balemans
Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
J Med Genet 39:91-7. 2002.... - Mutations in the EXT1 and EXT2 genes in hereditary multiple exostosesW Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Am J Hum Genet 62:346-54. 1998..The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function... - Characterization and genomic localization of the mouse Extl2 geneW Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Cytogenet Cell Genet 89:185-8. 2000..By radiation hybrid analysis, Extl2 was mapped to mouse chromosome 3, in a region homologous to the human EXTL2 region on chromosome 1... - Identification and characterization of a novel member of the EXT gene family, EXTL2W Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 5:382-9. 1997..In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31... - Refined physical mapping and genomic structure of the EXTL1 geneW 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... - Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell linesD Mathysen
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
Eur J Cancer 40:1255-61. 2004..EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma... - The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)W Wuyts
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
J Med Genet 37:916-20. 2000.... - Molecular and clinical examination of an Italian DEFECT11 familyW Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 7:579-84. 1999..The latter may be a yet undescribed feature of DEFECT11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT11 syndrome... - Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagnaW Wuyts
Department of Medical Genetics, Universiteitsplein 1, 2610 University of Antwerp, Belgium
Hum Mol Genet 9:1251-5. 2000..This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function... - Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)W Balemans
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
Hum Mol Genet 10:537-43. 2001..Therefore, this gene might become an important tool in the development of therapeutic strategies for osteoporosis... - Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsL Rooms
Department of Medical Genetics, University of Antwerp, Antwerp and University Hospital Antwerp, Belgium
Clin Genet 69:58-64. 2006..This high frequency of subtelomeric abnormalities detected in an unselected population warrants further investigation about the feasibility of routine screening for subtelomeric aberrations in mentally retarded patients... - Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hum Mutat 15:220-7. 2000..The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes... - Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21W Van Hul
Department of Medical Genetics, University of Antwerp, Belgium
Am J Hum Genet 61:363-9. 1997..The identification of the molecular defect underlying Albers-Schönberg disease will therefore be dependent on the isolation of other genes from an 8.5-cM candidate region on chromosome 1p21... - Assignment of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mappingD Mathysen
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Cytogenet Cell Genet 92:162-3. 2001 - Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteocIvy Jennes
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
J Mol Diagn 10:85-92. 2008..Clinical analysis showed no clear genotype-phenotype correlation in our cohort of MO patients... - Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American familyG Beyens
Department of Medical Genetics, University and University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium
Calcif Tissue Int 79:281-8. 2006..PDB mutations that disrupt the function of the PEST domain of SQSTM1 have not been reported before, so probably the pathogenic effect of both transcripts resides in the disruption of the ubiquitin-binding properties of the protein... - Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genesP Verdyck
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
Clin Genet 69:86-92. 2006..Further investigation is ongoing in these families in order to identify the genetic cause of AOS... - Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hum Mol Genet 5:1547-57. 1996..EXT2 has an open reading frame encoding 718 amino acids with an overall homology of 30.9% with EXT1, suggesting that a family of related genes might be responsible for the development of EXT... - KRAS mutation detection and prognostic potential in sporadic colorectal cancer using high-resolution melting analysisV Deschoolmeester
Laboratory of Cancer Research and Clinical Oncology, Department of Medical Oncology, University of Antwerp Antwerp University Hospital, Wilrijk 2610, Belgium
Br J Cancer 103:1627-36. 2010..Direct sequencing was used to confirm and characterise HRMA results... - Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and reviewWinnie Courtens
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
Am J Med Genet A 140:611-7. 2006..We conclude that a second gene locus for this disorder seems probable and that 4q35 needs further evaluation as a candidate region... - A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and reviewWinnie Courtens
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
Eur J Med Genet 49:402-13. 2006..ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed... - Comparison of three commonly used PCR-based techniques to analyze MSI status in sporadic colorectal cancerVanessa Deschoolmeester
Laboratory of Cancer Research and Clinical Oncology, Department of Medical Oncology, University of Antwerp UA UZA, Wilrijk, Belgium
J Clin Lab Anal 20:52-61. 2006..We recommend the use of FCE to analyze MSI status. This technique is sensitive, reproducible, user-friendly and leads to easy interpretation and high-throughput... 
Microsatellite instability in sporadic colon carcinomas has no independent prognostic value in a Belgian study populationVanessa Deschoolmeester
Laboratory of Cancer Research and Clinical Oncology, University of Antwerp UA and Department of Medical Oncology, University Hospital UZA, Universiteitsplein 1, 2610 Wilrijk, Belgium
Eur J Cancer 44:2288-95. 2008..In conclusion, our findings show an association of MSI in sporadic colon tumours and certain clinical features; however, they do not suggest a survival benefit for MSI tumours...- Detection of microsatellite instability in colorectal cancer using an alternative multiplex assay of quasi-monomorphic mononucleotide markersVanessa Deschoolmeester
Laboratory of Cancer Research and Clinical Oncology, Department of Medical Oncology, University of Antwerp UA UZA, Universiteitsplein 1, 2610 Wilrijk, Belgium
J Mol Diagn 10:154-9. 2008..The resulting mononucleotide fluorescent multiplex MSI assay has high accuracy, reliability, and throughput, thus reducing the time and cost involved in MSI testing... - High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA)Katrien Storm
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
J Cyst Fibros 6:371-5. 2007..8%, and L927P (2.4%). The clinical data is presented for the mutations 186-2A-->G, E588V, 3272-26A-->G and L927P. The mutation data are useful for the Belgian population to supplement the initial screening set of mutations... - Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletionWim Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Am J Med Genet 113:326-32. 2002.... - Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 12:400-6. 2004..In addition fluorescence in situ hybridisation and molecular analysis were performed to gain further insight in potential candidate genes involved in P11pDS... - An interstitial deletion of chromosome 7 at band q21: a case report and reviewWinnie 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... - A subterminal deletion of the long arm of chromosome 10: a clinical report and reviewWinnie Courtens
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
Am J Med Genet A 140:402-9. 2006..We review the clinical and behavioral phenotype of these patients with "pure" subterminal 10q deletion... - Prenatal diagnosis of Pfeiffer syndrome type IIBettina Blaumeiser
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Prenat Diagn 24:644-6. 2004..To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history... - Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11W Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Am J Hum Genet 57:382-7. 1995..The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene... - Organization of the ribosomal operon 165-235 gene spacer region in representatives of Neisseria gonorrhoeaeM Van Looveren
Department of Medical Microbiology, University Hospital Antwerp, University of Antwerp, Belgium
Syst Appl Microbiol 23:9-14. 2000..We demonstrated that this results from sequence divergence in the 4 rRNA operons, present in the genome of N. gonorrhoeae, giving rise to patterns that are a combination of several other patterns... - Clinical and molecular analysis of nine families with Adams-Oliver syndromePieter Verdyck
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Eur J Hum Genet 11:457-63. 2003..Therefore, we can conclude that the AOS in our set of patients is not caused by mutations in ALX4 or MSX2... - Genetic defects in the development of the skull vault in humans and micePieter Verdyck
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Crit Rev Eukaryot Gene Expr 16:119-42. 2006..In addition, some insights into the disease mechanisms leading to skull vault disorders are beginning to be discovered... - Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)Ivy Jennes
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
Hum Mutat 30:1620-7. 2009..An overview of the reported variants is provided by the online Multiple Osteochondromas Mutation Database (http://medgen.ua.ac.be/LOVD)... - A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and reviewWinnie Courtens
Department of Human Genetics, University Hospital St Luc UCL, Brussels, Belgium
Clin Dysmorphol 16:231-9. 2007..We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome... - Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostosesStefan J White
Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Hum Mutat 24:86-92. 2004..The approach is especially suited for cases in which the number of patients to be tested is limited, making it financially unattractive to invest in cloning... - A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patientsEmanuela Signori
Laboratory of Molecular Medicine and Biotechnology, University Campus Bio Medico School of Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
Genes Chromosomes Cancer 46:470-7. 2007..More important, we were able to characterize all those patients who were negative at the first PCR-based method screening... - Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio del Castillo
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
Am J Hum Genet 73:1452-8. 2003..These results have important implications for the diagnosis and counseling of families with DFNB1 deafness... - GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti
Department of Pediatrics, Meyer Hospital, Florence, Italy
Hum Mutat 28:204. 2007..The accurate and fast method for the detection of alternatively spliced transcripts of the GLB1 gene could be applied to other disease-causing lysosomal genes that encode multiple mRNAs... - Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's diseaseLynne J Hocking
Department of Medicine and Therapeutics, University of Aberdeen, UK
Hum Mol Genet 11:2735-9. 2002..0001). These studies confirm that mutations affecting the ubiquitin-binding domain of SQSTM1 are a common cause of familial and sporadic Paget's disease of bone... - Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian Kroos
Departments of Clinical Genetics and Pediatrics, Erasmus MC, Rotterdam, The Netherlands
Hum Mutat 29:E13-26. 2008..Further, this article introduces a tool to rate the various mutations by severity, which will improve understanding of the genotype-phenotype correlation and facilitate the diagnosis and prognosis in Pompe disease... - Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters
Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
Am J Hum Genet 81:147-57. 2007.... - Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 geneGuy Massa
Department of Paediatrics, Virga Jesseziekenhuis, Stadsomvaart 11, 3500 Hasselt, Belgium
Eur J Pediatr 162:674-7. 2003..CONCLUSION: a solitary thyroid nodule may therefore be another presenting symptom of thyroid involvement in Pendred syndrome.. - Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmiasAlessia Bagattin
Department of Biology, University of Padua, Padua, Italy
Clin Chem 50:1148-55. 2004.... - KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutationAnette Bygum
Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark
Acta Derm Venereol 85:152-5. 2005..This patient is the first Danish patient in whom the keratitis-ichthyosis-deafness syndrome has been verified by mutation analysis... - A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)Liesbeth Spruijt
Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Am J Med Genet A 139:45-7. 2005