K Devriendt

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi request reprint Deletion in chromosome region 22q11 in a child with CHARGE association
    K Devriendt
    Center for Human Genetics, University Hospital Leuven, Belgium
    Clin Genet 53:408-10. 1998
  2. 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
  3. ncbi request reprint Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
    K Devriendt
    Center for Human Genetics, University of Leuven, Belgium
    Hum Genet 103:149-53. 1998
  4. ncbi request reprint Vesico-ureteral reflux: a genetic condition?
    K Devriendt
    Centre for Human Genetics, Leuven, Belgium
    Eur J Pediatr 157:265-71. 1998
  5. 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
  6. ncbi request reprint Genetic control of intra-uterine growth
    K Devriendt
    Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium
    Eur J Obstet Gynecol Reprod Biol 92:29-34. 2000
  7. ncbi request reprint Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations
    Philippe Debeer
    Centre for Human Genetics, Herestraat 49, B 3000 Leuven, Belgium
    Am J Med Genet A 120:49-58. 2003
  8. ncbi request reprint Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood
    S Van Campenhout
    Faculty of Psychology and Educational Sciences, Catholic University of Leuven, Leuven, Belgium
    Genet Couns 23:135-48. 2012
  9. ncbi request reprint Recurrent involvement of chromosomal region 6q21 in heterotaxy
    H Peeters
    Centre for Human Genetics, University of Leuven, Belgium
    Am J Med Genet 103:44-7. 2001
  10. 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

Detail Information

Publications95

  1. ncbi request reprint Deletion in chromosome region 22q11 in a child with CHARGE association
    K Devriendt
    Center for Human Genetics, University Hospital Leuven, Belgium
    Clin Genet 53:408-10. 1998
    ..The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion-duplication...
  2. 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...
  3. ncbi request reprint Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
    K Devriendt
    Center for Human Genetics, University of Leuven, Belgium
    Hum Genet 103:149-53. 1998
    ..As the ocular manifestations in this syndrome are variable anomalies of retinal and optic disk dysplasia, we prefer the term "papillo-renal syndrome"...
  4. ncbi request reprint Vesico-ureteral reflux: a genetic condition?
    K Devriendt
    Centre for Human Genetics, Leuven, Belgium
    Eur J Pediatr 157:265-71. 1998
    ....
  5. 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...
  6. ncbi request reprint Genetic control of intra-uterine growth
    K Devriendt
    Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium
    Eur J Obstet Gynecol Reprod Biol 92:29-34. 2000
    ..This has lead to the suggestion that the genomic imprinting has evolved as a mechanism to regulate embryonic and fetal growth...
  7. ncbi request reprint Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations
    Philippe Debeer
    Centre for Human Genetics, Herestraat 49, B 3000 Leuven, Belgium
    Am J Med Genet A 120:49-58. 2003
    ..In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed...
  8. ncbi request reprint Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood
    S Van Campenhout
    Faculty of Psychology and Educational Sciences, Catholic University of Leuven, Leuven, Belgium
    Genet Couns 23:135-48. 2012
    ..The most common non-medical problems are learning difficulties, motor impairment, attention deficits, social problems and behavioral problems. There is no correlation between the size of the duplication and the phenotype...
  9. ncbi request reprint Recurrent involvement of chromosomal region 6q21 in heterotaxy
    H Peeters
    Centre for Human Genetics, University of Leuven, Belgium
    Am J Med Genet 103:44-7. 2001
    ..Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans...
  10. 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...
  11. ncbi request reprint Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1
    S Claes
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Am J Med Genet 85:283-7. 1999
    ..1. When the analysis was performed considering the affected female to be an expressing heterozygote carrier of the disease mutation, a maximal LOD score of 2.10 was found in the same region...
  12. ncbi request reprint Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update
    B De Smedt
    Centre for Disability, Special Needs Education and Child Care, and Centre for Human Genetics, University of Leuven, Belgium
    J Intellect Disabil Res 51:666-70. 2007
    ..In addition, we aimed to identify factors that may contribute to within-syndrome variability in cognitive performance, such as the mode of inheritance of the deletion, sex, the presence of a heart defect and psychiatric morbidity...
  13. 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...
  14. ncbi request reprint Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations
    S G Frints
    Center for Human Genetics, University of Leuven, Belgium
    Ann Genet 44:71-6. 2001
    ..The manifestations in male and female with loss of the Xp22.3-->pter and gain of the Yq11.21-->qter chromosomal region are discussed...
  15. ncbi request reprint A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region. Genomic structure of the bait domains of human pregnancy zone protein and alpha 2 macroglobulin
    P Marynen
    Center for Human Genetics, University of Leuven, Belgium
    FEBS Lett 262:349-52. 1990
    ..A genetic polymorphism showing either a Met or a Val residue as the sixth amino acid of the pregnancy zone protein bait domain was detected with the rare Met allele showing a gene frequency of 0.065...
  16. ncbi request reprint A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene
    K Devriendt
    Center for Human Genetics, University of Leuven, Belgium
    Gene 81:325-34. 1989
    ..This result was confirmed in Southern-blot experiments with DNA from a human-Ltk- mouse somatic-cell hybrid containing only a human isochromosome 12p in a mouse background...
  17. ncbi request reprint Transcription factor GATA3 and the human HDR syndrome
    H Van Esch
    Centre for Human Genetics, University of Leuven, Belgium
    Cell Mol Life Sci 58:1296-300. 2001
    ..Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease...
  18. 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...
  19. ncbi request reprint Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50)
    S Claes
    Center for Human Genetics, University of Leuven, Belgium
    Am J Med Genet 73:474-9. 1997
    ..056 with markers DXS8054, DXS1055, and DXS1204, all at theta = 0.0. Flanking markers were DXS8012 and DXS991, situating the MRX50 gene at Xp11.3-Xp11.21, in the pericentromeric part of the short arm of the X chromosome...
  20. ncbi request reprint Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?
    A Swillen
    Center for Human Genetics Leuven, University Hospital Gasthuisberg, Belgium
    Child Neuropsychol 5:230-41. 1999
    ....
  21. ncbi request reprint Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia
    P M Groenen
    Laboratory for Molecular Oncology, University of Leuven, Belgium
    Genomics 49:218-29. 1998
    ..Expression of a truncated or hybrid CDC5L transcript resulting from the CDC5L rearrangement could not be demonstrated...
  22. ncbi request reprint Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction
    K Devriendt
    Center for Human Genetics, University of Leuven, Belgium
    Biochim Biophys Acta 1088:95-103. 1991
    ..A typical internal thiol ester site and a bait domain were identified. A Pro/Thr polymorphism was identified at amino acid position 1180, and an A/G nucleotide polymorphism at bp 4097...
  23. ncbi request reprint GATA3 haplo-insufficiency causes human HDR syndrome
    H Van Esch
    Laboratory for Molecular Oncology, Centre for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Belgium
    Nature 406:419-22. 2000
    ..These results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations...
  24. ncbi request reprint Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age
    A Swillen
    Center for Human Genetics Leuven, Clinical Genetics Unit, University of Leuven, Belgium
    Genet Couns 12:309-17. 2001
    ..Children with a del22q11 have a stronger tendency to withdraw from others, whereas children with a SLI+LD seem to be more aggressive...
  25. 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...
  26. doi request reprint DISC1 duplication in two brothers with autism and mild mental retardation
    A Crepel
    Center for Human Genetics, Clinical Genetics, University of Leuven, Leuven, Belgium
    Clin Genet 77:389-94. 2010
    ..This study is a typical illustration of the difficult interpretation of causality of a very rare variant in neuropsychiatric disease and the challenge of genetic counselling in a particular family...
  27. 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
    ....
  28. ncbi request reprint Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
    K Freson
    Center for Molecular and Vascular Biology, Center for Human Genetics, Department of Pathology, University of Leuven, Belgium
    Blood 98:85-92. 2001
    ..In conclusion, GATA1 mutations can lead to isolated X-linked macrothrombocytopenia without anemia...
  29. 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...
  30. 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...
  31. ncbi request reprint Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium
    Am J Med Genet 104:209-13. 2001
    ..Autopsy did not show additional malformations, and lung development was normal for gestational age. This observation also confirms the autosomal recessive inheritance pattern of congenital alveolar capillary dysplasia...
  32. doi request reprint Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia
    S Swinnen
    Department of Orthodontics, School of Dentistry, Oral Pathology and Maxillofacial Surgery, Catholic University Leuven, Leuven, Belgium
    Orthod Craniofac Res 11:24-31. 2008
    ..Based on the phenotypes in the pedigree of this family, the different possible patterns of transmission are discussed...
  33. 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
    ....
  34. ncbi request reprint Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies
    B Thienpont
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Cytogenet Genome Res 114:338-41. 2006
    ..This CCR involving at least seven breakpoints is one of the most complex rearrangements of a single chromosome reported thus far. Potential mechanisms generating such complex rearrangements are discussed...
  35. ncbi request reprint Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome
    B De Smedt
    Centre for Disability, Special Needs Education, and Child Care, University of Leuven, Belgium
    Genet Couns 19:71-94. 2008
    ..To conclude, the administered general cognitive competencies could not give a satisfactory account of the MD in VCFS...
  36. ncbi request reprint PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse
    H Peeters
    Centre for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Genet 112:573-80. 2003
    ..Analysis of the PA26 gene structure resulted in the identification of a novel PA26-related gene family, which we have named the sestrin family, and which comprises three closely related genes in human and in mouse...
  37. ncbi request reprint Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations
    G Vantrappen
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Hospitals, Leuven, Belgium
    Acta Otorhinolaryngol Belg 57:101-6. 2003
    ..In the current report we present guidelines for diagnosis, treatment and follow-up of the ENT manifestations in patients with a deletion 22q11, based on our experience and the literature...
  38. 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...
  39. ncbi request reprint Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications
    A Swillen
    Center for Human Genetics, Leuven, Belgium
    Am J Med Genet 97:128-35. 2000
    ..In this contribution we review current knowledge of the chromosome 22q11 deletion syndrome, with special emphasis on the clinical characteristics, including physical features, cognitive-behavioral spectrum, and psychiatric complications...
  40. ncbi request reprint Personality profiles of youngsters with velo-cardio-facial syndrome
    P Prinzie
    Department of Educational Sciences, University of Leuven, Belgium
    Genet Couns 13:265-80. 2002
    ..Some personality characteristics in youngsters with VCFS were related to IQ and Age, but not to cardiac defects or de novo versus familial genetic origin of the 22q11 deletion...
  41. 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
    ....
  42. ncbi request reprint Mathematical disabilities in young primary school children with velo-cardio-facial syndrome
    B De Smedt
    Centre for Disability, Special Needs Education and Child Care, University of Leuven, Belgium
    Genet Couns 17:259-80. 2006
    ..Finally, word problem solving appeared to be an important area of weakness, starting already at this young age...
  43. 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...
  44. pmc Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
    T Rossenbacker
    Centre for Transgene Technology and Gene Therapy, Flanders Interuniversitary Institute for Biotechnology, KULeuven, Campus Gasthuisberg, Herestraat 49, B 3000, Leuven, Belgium
    J Med Genet 42:e29. 2005
    ..The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical diversity, however, remain unknown. Exonic SCN5A mutations can be detected in 20% of Brugada syndrome patients...
  45. ncbi request reprint MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and M├╝llerian duct anomalies
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Am J Med Genet 107:233-6. 2002
    ....
  46. ncbi request reprint X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies
    S Claes
    Center for Human Genetics, University of Leuven, Belgium
    Clin Genet 52:155-61. 1997
    ..This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder...
  47. ncbi request reprint Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11)
    P Debeer
    Laboratory for Molecular Oncology and Center for Human Genetics, Herestraat 49, B 3000 Leuven, Belgium
    Clin Genet 62:410-4. 2002
    ..Because LCR-B does not contain genes involved in neural tube development, we believe that the gene responsible for the observed phenotype is most likely localized on chromosome X...
  48. ncbi request reprint The psychopathological phenotype of velo-cardio-facial syndrome
    A Vogels
    Center for Human Genetics, University Hospital, Leuven, Belgium
    Ann Genet 45:89-95. 2002
    ..It is concluded that VCFS is associated with a specific psychopathological syndrome...
  49. ncbi request reprint Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father
    L De Smet
    Department of Orthopedic Surgery, University of Leuven, Belgium
    Genet Couns 12:251-4. 2001
    ..Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance...
  50. ncbi request reprint Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 13:1-10. 2002
    ....
  51. ncbi request reprint Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Belgium
    Am J Med Genet 108:41-4. 2002
    ..The findings in the two female siblings document the earliest echographic diagnosis of hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of hydranencephaly...
  52. ncbi request reprint Mathematical disabilities in children with velo-cardio-facial syndrome
    B De Smedt
    Centre for Disability, Special Needs Education and Child Care, Faculty of Psychology and Educational Sciences, University of Leuven, Belgium
    Neuropsychologia 45:885-95. 2007
    ..This provides evidence for a specific deficit in the quantity subsystem in children with VCFS, suggesting underlying abnormalities in the intraparietal sulcus...
  53. 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
    ....
  54. ncbi request reprint A novel MSX1 mutation in hypodontia
    S De Muynck
    Department of Orthodontics, School of Dentistry, Faculty of Medicine, Catholic University Leuven, Leuven, Belgium
    Am J Med Genet A 128:401-3. 2004
    ..In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family...
  55. doi request reprint A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum
    L Backx
    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    Cytogenet Genome Res 132:135-43. 2011
    ..Additional experimental results suggest that ARID1B, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient...
  56. ncbi request reprint Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
    K Devriendt
    Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Nat Genet 27:313-7. 2001
    ..Our findings highlight the importance of precise regulation of WASP in hematopoietic development and function, as impairment versus enhancement of its activity give rise to distinct spectra of cellular defects and clinical phenotypes...
  57. doi request reprint Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants
    M Isrie
    Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 55:577-85. 2012
    ..Applied to our cohort, 19 male ID patients (0.85%) were found to carry a (likely) pathogenic X-CNV...
  58. ncbi request reprint Aneurysm of the ductus arteriosus in a neonate with 13q-deletion
    G Naulaers
    Department of Paediatrics, UZ Gasthuisberg, Leuven, Belgium
    Am J Perinatol 18:11-4. 2001
    ..Karyotype analysis revealed a de novo chromosomal deletion 46,XY, del (13)(q12.3,q22.3). To the best of our knowledge, this is the first case of an aneurysm of the ductus arteriosus associated with a chromosomal aberration...
  59. ncbi request reprint Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia
    P M Groenen
    Laboratory of Molecular Oncology, Center for Human Genetics, University of Leuven, Belgium
    Genomics 38:141-8. 1996
    ....
  60. ncbi request reprint [Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists]
    A Van Thillo
    Tijdschr Psychiatr 52:719-23. 2010
    ..We also mention relevant data obtained in our literature search...
  61. ncbi request reprint Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
    Ph Debeer
    Department of Orthopaedics, University Hospital Pellenberg, Weligerveld 1, B 3212 Pellenberg, Belgium
    Eur J Med Genet 48:377-87. 2005
    ..We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases...
  62. ncbi request reprint Novel syndromic form of X-linked complicated spastic paraplegia
    S Claes
    Laboratory for Neurogenetics, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerp, Belgium
    Am J Med Genet 94:1-4. 2000
    ..Therefore, the syndrome in this family appears to represent a previously undescribed X-linked spastic paraplegia-mental retardation syndrome...
  63. ncbi request reprint Scalp skin lesion in Turner syndrome: more than lymphoedema?
    A Debeer
    Neonatal Intensive Care Unit, Department of Pediatrics, University Hospital Leuven, Leuven, Belgium
    Clin Dysmorphol 14:149-50. 2005
    ..Histological examination in this case, however, shows a congenital mucinous nevus. Possibly an abnormal amount of proteoglycans in the skin of patients with TS can clarify the occurrence of this type of skin lesion...
  64. ncbi request reprint Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family
    Philippe Debeer
    Centre for Human Genetics, University Hospital Leuven, Herestraat, Leuven, Belgium
    Am J Med Genet A 119:188-93. 2003
    ..The findings in this family strengthen the hypothesis that osteopoikilosis is an autosomal dominant condition and that an early postzygotic second hit mutation in the second allele results in melorheostosis...
  65. ncbi request reprint Structure of the human alpha-2 macroglobulin gene and its promotor
    G Matthijs
    Center for Human Genetics, University of Leuven, Belgium
    Biochem Biophys Res Commun 184:596-603. 1992
    ..The far distal transcription initiation site which is preceded by an intact TATA box and a potential HP-1 binding site is thus specific for liver...
  66. doi request reprint Aetiology of congenital hearing loss: a cohort review of 569 subjects
    F Lammens
    Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals of Leuven, Leuven, Belgium
    Int J Pediatr Otorhinolaryngol 77:1385-91. 2013
    ..Newborn hearing screening was implemented in Flanders about fifteen years ago. The aim of this study was to determine the aetiology of hearing loss detected by the Flemish screening programme...
  67. doi request reprint Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia
    P D Brady
    Centre for Human Genetics, KU Leuven University Hospital Leuven, Leuven, Belgium
    Prenat Diagn 33:1283-92. 2013
    ..We propose that chromosomal microarray analysis will identify copy number variations (CNVs) associated with isolated CDH...
  68. ncbi request reprint Unilateral Peters' anomaly in a patient with DiGeorge syndrome
    I Casteels
    Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium
    J Pediatr Ophthalmol Strabismus 42:311-3. 2005
    ..2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder...
  69. ncbi request reprint Right aortic arch with vascular ring in one monozygotic twin
    A Sondakh
    Department of Cardiac Surgery, University Hospital Leuven, Leuven, Belgium
    J Thorac Cardiovasc Surg 130:883-4. 2005
  70. pmc Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, 45122 Essen, Germany
    Am J Hum Genet 68:81-91. 2001
    ..Our data indicate that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene...
  71. pmc Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
    L A Schimmenti
    Department of Pediatrics, University of California, Los Angeles, School of Medicine, USA
    Am J Hum Genet 60:869-78. 1997
    ..These results suggest that a sequence of seven Gs in PAX2 exon 2 may be particularly prone to mutation...
  72. ncbi request reprint Prenatal findings in a monozygotic twin pregnancy with Costello syndrome
    T van den Bosch
    Department of Obstetrics and Gynaecology, A Z Heilig Hart, Tienen, Belgium
    Prenat Diagn 22:415-7. 2002
    ..The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency...
  73. pmc Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
    J Kohlhase
    Institute for Human Genetics, University of Gottingen, Gosslerstr 12d, D 37073G├Âttingen, Germany
    Am J Hum Genet 64:435-45. 1999
    ..We also present evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome. However, phenotypic differences in TBS do not seem to depend on the site of mutation...
  74. ncbi request reprint Autosomal dominant isolated velopharyngeal insufficiency
    G Vantrappen
    Clin Genet 61:74-6. 2002
  75. ncbi request reprint Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma
    M Genuardi
    Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy
    Eur J Hum Genet 9:690-4. 2001
    ..Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene...
  76. ncbi request reprint Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Hum Mol Genet 10:1591-600. 2001
    ..Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect...
  77. pmc Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase
    A Irrthum
    Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, B 1200 Brussels, Belgium
    Am J Hum Genet 67:295-301. 2000
    ..In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35...
  78. ncbi request reprint Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience
    G Vantrappen
    Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Leuven
    Acta Otorhinolaryngol Belg 55:43-8. 2001
    ....
  79. ncbi request reprint Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
    B L Callewaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 29:150-8. 2008
    ..Glucose metabolism was normal in six patients and eight heterozygous individuals of five families. As such, overt diabetes is not related to SLC2A10 mutations associated with ATS...
  80. ncbi request reprint Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects
    Ph Debeer
    Am J Med Genet 111:455-6. 2002
  81. 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
  82. pmc RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions
    S Girirajan
    Department of Human Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    J Med Genet 42:820-8. 2005
    ..RAI1 lies within the 17p11.2 locus, but these patients did not have 17p11.2 deletions...
  83. ncbi request reprint Parenting, family contexts, and personality characteristics in youngsters with VCFS
    P Prinzie
    Department of Educational Sciences, Leiden University, Leiden, The Netherlands
    Genet Couns 15:141-57. 2004
    ..Families in which a familial deletion occurred reported higher levels of Marital Conflict and lower Warmth in the parent-child interactions...
  84. ncbi request reprint The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
    B Dimitrov
    Genet Couns 16:181-6. 2005
  85. ncbi request reprint Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence
    B De Smedt
    Fund for Scientific Research, Flanders, Belgium
    Genet Couns 14:15-29. 2003
    ..However, at an individual level--especially within the domain of counting skills and mathematics--there is a wide variability, with some children showing remarkable learning difficulties already at an early age...
  86. pmc Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
    A Rauch
    J Med Genet 41:e40. 2004
  87. 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
    ....
  88. ncbi request reprint A case of left isomerism with early fetal decompensation
    I Witters
    Ultrasound Obstet Gynecol 30:363-4. 2007
  89. ncbi request reprint A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses
    P Debeer
    Am J Med Genet A 128:439-40. 2004
  90. ncbi request reprint Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
    Z Urban
    Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822 2321, USA
    Hum Genet 106:577-88. 2000
    ..Given the predominance of PTC mutations in SVAS, we suggest that functional haploinsufficiency may be a pathomechanism underlying most cases of non-syndromic SVAS...
  91. pmc Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study
    D Lambrechts
    J Med Genet 42:519-22. 2005
  92. pmc The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
    D Castermans
    J Med Genet 40:352-6. 2003
  93. ncbi request reprint ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
    H Van Esch
    Clin Genet 65:503-5. 2004
  94. ncbi request reprint Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome?
    K Devriendt
    Genet Couns 15:103-4. 2004
  95. ncbi request reprint Resolution of non-immune hydrops in Noonan syndrome with favorable outcome
    I Witters
    Am J Med Genet 110:408-9. 2002