E Legius

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. pmc PTPN11 mutations in LEOPARD syndrome
    E Legius
    Centre for Human Genetics, University Hospitals, Leuven, Belgium
    J Med Genet 39:571-4. 2002
  2. ncbi request reprint Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
    E Legius
    Center for Human Genetics, Leuven, Belgium
    Eur J Hum Genet 6:32-7. 1998
  3. ncbi request reprint Second polar body inclusion results in diploid/triploid mixoploidy
    H Brems
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Genet Couns 14:425-9. 2003
  4. ncbi request reprint Psychotic disorders in Prader-Willi syndrome
    A Vogels
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Am J Med Genet A 127:238-43. 2004
  5. ncbi request reprint The cardiofaciocutaneous syndrome: prenatal findings in two patients
    I Witters
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Prenat Diagn 28:53-5. 2008
  6. ncbi request reprint Semilobar holoprosencephaly in a 46,XY female fetus
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Prenat Diagn 21:839-41. 2001
  7. pmc Elevated risk for MPNST in NF1 microdeletion patients
    T De Raedt
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Am J Hum Genet 72:1288-92. 2003
  8. doi request reprint Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group
    M J Descheemaeker
    Center of Human Genetics, University Hospitals of Leuven, Leuven, Belgium
    J Intellect Disabil Res 57:874-86. 2013
  9. pmc Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
    K Devriendt
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Hum Genet 60:581-7. 1997
  10. ncbi request reprint Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
    R Wu
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Hum Mutat 8:51-6. 1996

Collaborators

Detail Information

Publications37

  1. pmc PTPN11 mutations in LEOPARD syndrome
    E Legius
    Centre for Human Genetics, University Hospitals, Leuven, Belgium
    J Med Genet 39:571-4. 2002
    ....
  2. ncbi request reprint Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
    E 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...
  3. ncbi request reprint Second polar body inclusion results in diploid/triploid mixoploidy
    H 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...
  4. ncbi request reprint Psychotic disorders in Prader-Willi syndrome
    A 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...
  5. ncbi request reprint The cardiofaciocutaneous syndrome: prenatal findings in two patients
    I Witters
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Prenat Diagn 28:53-5. 2008
  6. ncbi request reprint Semilobar holoprosencephaly in a 46,XY female fetus
    I 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...
  7. pmc Elevated risk for MPNST in NF1 microdeletion patients
    T 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...
  8. doi request reprint Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group
    M J Descheemaeker
    Center of Human Genetics, University Hospitals of Leuven, Leuven, Belgium
    J Intellect Disabil Res 57:874-86. 2013
    ..Moreover, most studies use a non-IQ-controlled norm group for comparison. This study sought to investigate specific neuropsychological characteristics in intellectual abilities unrelated to the global intellectual capacity...
  9. pmc Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
    K 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...
  10. ncbi request reprint Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
    R 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...
  11. ncbi request reprint Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
    Annick 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...
  12. ncbi request reprint Gender-specific regional changes in genetic structure of muscularity in early adolescence
    R Loos
    Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
    J Appl Physiol (1985) 82:1802-10. 1997
    ..Gene mapping could validate the gender-specific change of the genetic structure with age and region...
  13. ncbi request reprint 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...
  14. ncbi request reprint Visual loss as the presenting sign of Jeune syndrome
    I 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...
  15. ncbi request reprint 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
  16. ncbi request reprint 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
    ....
  17. ncbi request reprint Familial temporal lobe epilepsy with febrile seizures
    C 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...
  18. ncbi request reprint Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children
    M 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...
  19. doi request reprint Role of visual evoked potentials in the assessment and management of optic pathway gliomas in children
    C van Mierlo
    Department of Ophthalmology, University Hospitals of Leuven, Kapucijnenvoer 33, 3000, Leuven, Belgium
    Doc Ophthalmol 127:177-90. 2013
    ..The aim of this study is to investigate the role of pattern reversal visual evoked potentials (pVEPs) in the screening and monitoring of optic pathway gliomas (OPGs) in children with and without neurofibromatosis type 1...
  20. ncbi request reprint Personality profiles of children and adolescents with neurofibromatosis type 1
    P 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...
  21. pmc Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS
    J 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...
  22. ncbi request reprint BRCA1/2 predictive testing and gender: uptake, motivation and psychological characteristics
    L 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...
  23. ncbi request reprint Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients
    M Spaepen
    Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium
    Fam Cancer 5:179-89. 2006
    ..To increase the mutation detection rate by selecting the target population...
  24. ncbi request reprint Prophylactic salpingo-oophorectomy in 51 women with familial breast-ovarian cancer: importance of fallopian tube dysplasia
    K 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...
  25. pmc Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
    J 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...
  26. ncbi request reprint 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 gene
    M 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...
  27. ncbi request reprint Prenatal diagnosis of trisomy 21 between 1991 and 1999 in the Leuven Centre for Human Genetics: effect of triple test screening
    I Witters
    Genet Couns 13:199-202. 2002
  28. ncbi request reprint 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 counterparts
    H 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...
  29. ncbi request reprint Linkage analysis in three families with nonspecific X-linked mental retardation
    S 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...
  30. ncbi request reprint Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia
    I 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...
  31. ncbi request reprint SOX10 mutations in patients with Waardenburg-Hirschsprung disease
    V 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...
  32. ncbi request reprint Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
    J 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...
  33. ncbi request reprint Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
    K Wimmer
    Laboratory Medical Genomics, Department of Genetics UAB, University of Alabama at Birmingham, 35249 0024, USA
    Genes Chromosomes Cancer 45:265-76. 2006
    ....
  34. ncbi request reprint Intelligence in individuals with a neurofibromatosis type 1 microdeletion
    M J Descheemaeker
    Am J Med Genet A 131:325-6. 2004
  35. ncbi request reprint Cancer genetics service provision: a comparison of seven European centres
    P 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...
  36. ncbi request reprint Recombination hotspot in NF1 microdeletion patients
    C Lopez-Correa
    Center for Human Genetics, Catholic University Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Mol Genet 10:1387-92. 2001
    ..The deletion-junction assay will facilitate the prospective identification of patients with NF1 microdeletion at this hotspot for genotype-phenotype correlation studies and diagnostic evaluation...
  37. pmc Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1
    L De Smet
    J Med Genet 39:e45. 2002