Research Topics
Species | E LegiusSummaryAffiliation: Katholieke Universiteit Leuven Country: Belgium Publications
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Detail Information
Publications
PTPN11 mutations in LEOPARD syndromeE Legius
Centre for Human Genetics, University Hospitals, Leuven, Belgium
J Med Genet 39:571-4. 2002....- Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large familyE Legius
Center for Human Genetics, Leuven, Belgium
Eur J Hum Genet 6:32-7. 1998..We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341... - Second polar body inclusion results in diploid/triploid mixoploidyH Brems
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
Genet Couns 14:425-9. 2003..These observations can only be explained by the inclusion of the second polar body in one of the blastomeres at the cleavage stage... - Psychotic disorders in Prader-Willi syndromeA Vogels
Center for Human Genetics, University of Leuven, Leuven, Belgium
Am J Med Genet A 127:238-43. 2004..The presence of precipitating stress factors and a prodromal phase with physiological symptoms was reported in all patients. Current diagnostic categories do not allow an unequivocal psychiatric diagnosis... - The cardiofaciocutaneous syndrome: prenatal findings in two patientsI Witters
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
Prenat Diagn 28:53-5. 2008 - Elevated risk for MPNST in NF1 microdeletion patientsT De Raedt
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
Am J Hum Genet 72:1288-92. 2003..This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion... - Semilobar holoprosencephaly in a 46,XY female fetusI Witters
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
Prenat Diagn 21:839-41. 2001..Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads... - Skewed X-chromosome inactivation in female carriers of dyskeratosis congenitaK Devriendt
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Am J Hum Genet 60:581-7. 1997..This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation... - Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndromeR Wu
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Hum Mutat 8:51-6. 1996..We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved... - Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in FlandersAnnick Vogels
Centre for Human Genetics, University of Leuven, Leuven, Belgium
Eur J Hum Genet 12:238-40. 2004..Childhood death is usually sudden and associated with respiratory infection and high temperature, while the cause of death in adults is considered to be circulatory or respiratory in origin... - Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)G Matthijs
Center for Human Genetics, University of Leuven, Belgium
Genomics 35:597-9. 1996..Third, allelic associations suggest that the disease locus is localized close to D16S414/D16S497. This places the region of interest centromeric of its published localization... - Is cancer risk related to genes for steroid receptors and estrogen metabolism?E Legius
Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
Int J Gynecol Cancer 16:549-51. 2006 - Visual loss as the presenting sign of Jeune syndromeI Casteels
Department of Ophthalmology, St Rafael University Hospitals, Capucijnenvoer, Belgium
Eur J Paediatr Neurol 4:243-7. 2000..Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years... - Gender-specific regional changes in genetic structure of muscularity in early adolescenceR Loos
Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
J Appl Physiol 82:1802-10. 1997..Gene mapping could validate the gender-specific change of the genetic structure with age and region... - Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 childrenM J Descheemaeker
Centre for Human Genetics, University of Leuven, Leuven, Belgium
J Intellect Disabil Res 49:33-46. 2005..In the present study the neuropsychological, academic and social-emotional profiles were examined in Neurofibromatosis type 1 (NF1) children... - Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)Ingrid Witters
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
Prenat Diagn 22:29-33. 2002.... - Familial temporal lobe epilepsy with febrile seizuresC Depondt
Department of Neurology, Centre for Human Genetics, University Hospital of Leuven, Belgium
Neurology 58:1429-33. 2002..There was no evidence for linkage to 13 candidate loci. This large family with autosomal dominant TLE has a distinct phenotype and shows no linkage to known candidate regions for familial partial epilepsy and FS... - Personality profiles of children and adolescents with neurofibromatosis type 1P Prinzie
Department of Educational Sciences, University of Leuven, Leuven, Belgium
Am J Med Genet A 118:1-7. 2003..Personality characteristics were similar for children with maternally or paternally inherited NF1, or for children with a new mutation. There was no association with gender, the severity of medical and cosmetic problems, and IQ... - Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patientsM Spaepen
Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium
Fam Cancer 5:179-89. 2006..Considerable attention went to the assessment of the pathogenicity of the missense mutations. In practice, the cosegregation with the disease was the most relevant criterion... - Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSASJ C Ruiz
Centre for Human Genetics, University of Leuven, Belgium
J Med Genet 32:549-52. 1995..We report two new mutations in the L1-CAM gene in these two families showing that the three different phenotypes observed in different generations within the same family are variable phenotypic expressions of the same mutation... - BRCA1/2 predictive testing and gender: uptake, motivation and psychological characteristicsL Denayer
Psychosocial Genetics Unit, Center for Human Genetics, University Hospitals, 3000 Leuven, Belgium
Genet Couns 20:293-305. 2009..In the descendants of identified carriers, uptake was predicted by gender and age, but not by the parent's gender or by BRCA1 or BRCA2 status... - Prenatal diagnosis of trisomy 21 between 1991 and 1999 in the Leuven Centre for Human Genetics: effect of triple test screeningI Witters
Genet Couns 13:199-202. 2002 - Linkage analysis in three families with nonspecific X-linked mental retardationS Claes
Center for Human Genetics, University of Leuven, Belgium
Am J Med Genet 64:137-46. 1996..9 in region Xp22.13-11.3. However, even in this small pedigree, exclusion mapping was able to exclude very large parts of the X chromosome and in this way identify a likely candidate region... - Prophylactic salpingo-oophorectomy in 51 women with familial breast-ovarian cancer: importance of fallopian tube dysplasiaK Leunen
Department of Obstetrics and Gynaecology, Division of Gynaecologic Oncology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
Int J Gynecol Cancer 16:183-8. 2006..Peritoneal cytology specimens (n= 28) were all negative. Laparoscopic pBSO is well tolerated. Concomitant hysterectomy should be considered, given the observed fallopian tube dysplasia and the possibility of a tubal remnant after pBSO... - Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiencyJ L K Van Hove
Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA
J Neurol Neurosurg Psychiatry 77:18-23. 2006..Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms... - Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 geneM Veugelers
Laboratory for Glycobiology and Developmental Genetics, University of Leuven, Belgium
Hum Mol Genet 9:1321-8. 2000..In three SGBS patients and in all non-SGBS patients, no mutations could be identified. We found three single nucleotide polymorphisms in the GPC4 gene but no evidence for loss-of-function mutations in GPC4 associated with SGBS... - Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterpartsH Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Germany
Gene 251:63-71. 2000..The characterization of the 5' flanking region presented here, together with that of the 3' region, demonstrates the profound differences between Fugu and human considering the gene content within the region flanking the NF1 gene... - Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic herniaI Witters
Department of Obstetrics and Gynecology, University of Leuven, B-3000 Leuven, Belgium
Am J Med Genet 103:278-82. 2001..The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound... - Intelligence in individuals with a neurofibromatosis type 1 microdeletionM J Descheemaeker
Am J Med Genet A 131:325-6. 2004 - Cancer genetics service provision: a comparison of seven European centresP Hopwood
Psycho Oncology, Christie Hospital NHS Trust, Manchester, UK
Community Genet 6:192-205. 2003..Information was obtained on aspects of services both nationally and locally... - Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patientsK Wimmer
Laboratory Medical Genomics, Department of Genetics UAB, University of Alabama at Birmingham, 35249-0024, USA
Genes Chromosomes Cancer 45:265-76. 2006.... - Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasiaJ R Hurvitz
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
Nat Genet 23:94-8. 1999..We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis... - SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault
INSERM U468, Hopital Henri Mondor, Creteil, France
Nat Genet 18:171-3. 1998..Our findings further define the locus heterogeneity of Waardenburg-Hirschsprung syndromes, and point to an essential role of SOX10 in the development of two neural crest-derived human cell lineages... - Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1L De Smet
J Med Genet 39:e45. 2002