J P Fryns

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Belgium
    Genet Couns 14:245-7. 2003
  2. ncbi Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
    Griet Van Buggenhout
    Centre for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Orphanet J Rare Dis 1:26. 2006
  3. ncbi Pfeiffer syndrome
    Annick Vogels
    Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Orphanet J Rare Dis 1:19. 2006
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism
    H Peeters
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 19:365-71. 2008
  9. ncbi 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
  10. ncbi 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

Detail Information

Publications105 found, 100 shown here

  1. ncbi Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Belgium
    Genet Couns 14:245-7. 2003
  2. ncbi Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
    Griet Van Buggenhout
    Centre for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Orphanet J Rare Dis 1:26. 2006
    ..Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders...
  3. ncbi Pfeiffer syndrome
    Annick Vogels
    Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Orphanet J Rare Dis 1:19. 2006
    ..Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism
    H Peeters
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 19:365-71. 2008
    ..The application of array-CGH in patients with mental retardation and only very mild dysmorphism may allow to detect small 22qter duplications more frequently...
  9. ncbi 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...
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter)
    M Syrrou
    Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium
    Am J Med Genet 104:199-203. 2001
    ..Fluorescence in situ hybridization (FISH) analysis with different probes that map to 4p and 4q helped to clarify the karyotype. We discuss the mechanism of appearance of this unusual type of mosaicism, which has not been reported before...
  13. ncbi 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...
  14. ncbi Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome
    E Schollen
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Hum Mutat 22:116-20. 2003
    ..The exact nature of the rearrangement in the third patient remained elusive. These results underline the importance of screening for major genomic rearrangements in Rett syndrome. Hum Mutat 22:116-120, 2003...
  15. ncbi Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome
    I Witters
    Department of Obstetrics and Gynaecology, University Hospital Gasthuisberg of Leuven, Leuven, Belgium
    Ann Genet 44:179-82. 2001
    ..Hypoplastic left heart with valvular aortic stenosis and non-immune hydrops were additional findings, and are well-documented in Turner syndrome. The occurrence of epignathus teratoma in Turner syndrome has not been documented sofar...
  16. ncbi Rett syndrome in females with CTS hot spot deletions: a disorder profile
    E Smeets
    Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Med Genet A 132:117-20. 2005
    ..The delineation of disorder profiles by long-term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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 MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Am J Med Genet 107:233-6. 2002
    ....
  21. ncbi PTPN11 mutations in LEOPARD syndrome
    E Legius
    Centre for Human Genetics, University Hospitals, Leuven, Belgium
    J Med Genet 39:571-4. 2002
    ....
  22. ncbi 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...
  23. ncbi 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 Rett syndrome in adolescent and adult females: clinical and molecular genetic findings
    E Smeets
    Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Med Genet A 122:227-33. 2003
    ..Knowledge of the clinical phenotype of RTT at an adult age is important for all involved in the care of these individuals. The involvement of the parent support group is very important in this matter...
  25. ncbi 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...
  26. ncbi 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...
  27. ncbi 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...
  28. ncbi 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
    ....
  29. ncbi 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
    ....
  30. ncbi 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
  31. ncbi 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"...
  32. ncbi Terminal 6q25.3 deletion and abnormal behaviour
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 12:213-21. 2001
    ..A review of the available literature strongly suggests that individuals with small chromosomal deletions are at high risk of developing behavioural problems...
  33. ncbi 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...
  34. ncbi 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...
  35. ncbi 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...
  36. ncbi Skeletal dysplasias: 38 prenatal cases
    I Witters
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 19:267-75. 2008
    ..To assess the prenatal diagnosis of skeletal dysplasias in a single center over a ten-years period...
  37. ncbi Vesico-ureteral reflux: a genetic condition?
    K Devriendt
    Centre for Human Genetics, Leuven, Belgium
    Eur J Pediatr 157:265-71. 1998
    ....
  38. ncbi Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients
    G J Van Buggenhout
    Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000, Leuven, Belgium
    Ann Genet 44:89-92. 2001
    ..The results of cryptic chromosomal rearrangement studies are variable but the frequency of positive diagnostic findings seems to be lower than previously expected...
  39. ncbi 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...
  40. ncbi Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features
    E Smeets
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 12:85-9. 2001
    ..In this patient the partial 3p trisomy is the unbalanced product of a 3p/17p translocation: t(3;7)(p253;p133)...
  41. ncbi Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint
    P Debeer
    Center for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Belgium
    Eur J Hum Genet 8:561-70. 2000
    ..These findings lay the groundwork for further efforts to characterise a gene critical for normal distal limb development that is perturbed by this translocation...
  42. ncbi PTEN mutation in a family with Cowden syndrome and autism
    A Goffin
    Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium
    Am J Med Genet 105:521-4. 2001
    ....
  43. ncbi Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis
    T Lukusa
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 21:25-34. 2010
    ..3 to 17qter...
  44. ncbi 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...
  45. ncbi 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...
  46. ncbi 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...
  47. ncbi Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29
    E Chabchoub
    Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Dermatology 223:306-10. 2011
    ..This novel entity, known as oculocerebral hypopigmentation syndrome (OCHS) or Cross syndrome (OMIM 257800), is assumed to be autosomal recessive. However, its genetic cause is still unknown...
  48. ncbi The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features
    H Van Esch
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 16:91-3. 2005
  49. ncbi 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...
  50. ncbi A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32
    M Veugelers
    Laboratory for Glycobiology and Developmental Genetics, Center for Human Genetics, University of Leuven, Campus Gasthuisberg O and N6, Herestraat 49, B 3000 Leuven, Belgium
    Matrix Biol 20:375-85. 2001
    ..Mutational analysis of GPC5 and GPC6 in 19 patients with somatic overgrowth failed to reveal pathologic mutations in either of these genes, but identified several coding region polymorphisms...
  51. ncbi 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...
  52. ncbi The velocardiofacial syndrome: a review
    A Vogels
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 13:105-13. 2002
    ..Involvement of multiple disease genes is strongly suspected and traditional positional cloning techniques as well as mouse models are used to identify the involved genes...
  53. ncbi Intrafamilial clinical variability in type C brachydactyly
    P Debeer
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 12:353-8. 2001
    ..The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that brachydactyly type C is not a true autosomal dominant condition due to mutations in a single gene...
  54. ncbi The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics
    K Peeters
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 19:1-14. 2008
    ..Taking into account their mental age, their behavior is quiet and easy to handle by their environment...
  55. ncbi 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...
  56. ncbi Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Prenat Diagn 21:62-4. 2001
    ..Associated malformations included a left lateral cleft with macrostomia, left ear hypoplasia, left preauricular tag, single umbilical artery, hyposegmentation of the left lung and imperforatio ani...
  57. ncbi 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
    ....
  58. ncbi The Prader-Willi syndrome and the Angelman syndrome
    A Vogels
    Center for Human Genetics, University of Leuven, Belgium
    Genet Couns 13:385-96. 2002
    ..In this review we include the present state of art and a delineation of future approach to study the candidate genes in these two syndromes...
  59. ncbi 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...
  60. ncbi The ICF syndrome: new case and update
    T J de Ravel
    Center for Human Genetics, Katholieke Universiteit Leuven, Belgium
    Genet Couns 12:379-85. 2001
    ..Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition...
  61. ncbi Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor
    T J de Ravel
    Center for Human Genetics, KU Leuven, Belgium
    Clin Dysmorphol 10:263-7. 2001
    ..The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error...
  62. ncbi Prenatal diagnosis of trisomy 21: registration results from a single genetic center
    I Witters
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 19:157-63. 2008
    ....
  63. ncbi 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...
  64. ncbi Goeminne syndrome (OMIM 314300): another male patient 30 years later
    J P Fryns
    Center for Human Genetics, University Hospital Gasthuisberg, B-3000 Leuven, Belgium
    Genet Couns 14:109-11. 2003
  65. ncbi Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum
    M J Descheemaeker
    Centre for Human Genetics, University of Leuven, Leuven, Belgium
    J Intellect Disabil Res 46:41-50. 2002
    ..The intellectual functioning of these subjects was in the normal to borderline range...
  66. ncbi Split-hand/split-foot malformation with paternal mutation in the p63 gene
    I Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Prenat Diagn 21:1119-22. 2001
    ..This mutation has not been reported so far in SHSFM but resembles the previously reported 580A-->G (predicting amino acid substitution K194E) in a family with SHSFM...
  67. ncbi Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
    K Poirier
    , , UMR-S 8104, Paris, F-75014 France
    Neurogenetics 7:39-46. 2006
    ..2%). This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication...
  68. ncbi Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature
    D M Ioan
    Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania
    Genet Couns 18:113-7. 2007
    ..e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal...
  69. ncbi 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
  70. ncbi Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
    D Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 77:205-18. 2005
    ..It contributes to the enlarging group of developmental diseases caused by defective distant regulation of gene expression. Finally, we demonstrate that CNGs are candidate regions for genomic rearrangements in developmental genes...
  71. ncbi Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
    M M Hagleitner
    Department of Pediatric Immunology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Med Genet 45:93-9. 2008
    ..Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients...
  72. ncbi Attitudes towards carrier testing in minors: a systematic review
    P Borry
    Center for Biomedical Ethics and Law, Catholic University of Leuven, Belgium
    Genet Couns 16:341-52. 2005
    ..Guidelines of healthcare professionals advise to defer carrier testing on the grounds that children should be able to decide for themselves later in life to request a carrier test or not...
  73. ncbi Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
    V Belengeanu
    Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania
    Genet Couns 16:167-71. 2005
    ..The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder...
  74. ncbi Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome
    S Kantarci
    Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Am J Med Genet A 140:17-23. 2006
    ..12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH...
  75. ncbi The acrofacial dysostoses--a wide spectrum of overlapping phenotypes
    B Dimitrov
    Genet Couns 16:181-6. 2005
  76. ncbi A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism
    I Akalin
    Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey
    Genet Couns 16:145-8. 2005
    ..To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date...
  77. ncbi Terminal 2q37 deletion and autistic behaviour
    T Lukusa
    Genet Couns 16:179-80. 2005
  78. ncbi DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
    Y L Jiang
    E367 Inserm, Institut Jacques Monod, Paris, France
    Hum Mutat 25:56-63. 2005
    ..This classification illustrates the specificity of the methylation process and raises questions about the genetic heterogeneity of the ICF syndrome...
  79. ncbi A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
    I Meloni
    Medical Genetics, University of Siena, Policlinico Le Scotte, 53100 Siena, Italy
    Am J Hum Genet 67:982-5. 2000
    ..The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders...
  80. ncbi 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...
  81. ncbi Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 67:197-202. 2000
    ..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism...
  82. ncbi 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...
  83. ncbi A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
    H G Yntema
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 62:332-43. 1999
    ..Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene...
  84. ncbi Genetic heterogeneity of gingival fibromatosis on chromosome 2p
    V Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    J Med Genet 36:683-6. 1999
    ..Thus, our results support the presence of two different gene loci on chromosome 2p that are involved in GF...
  85. ncbi Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
    P B Munroe
    Department of Paediatrics, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Nat Genet 21:142-4. 1999
    ..69delG, IVS1-2A-->G and c.113T-->A. All three mutations predict a non-functional MGP. Our data indicate that mutations in MGP are responsible for KS and confirm its role in the regulation of extracellular matrix calcification...
  86. ncbi Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
    ..Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase...
  87. ncbi Seventh International Workshop on the Fragile X and X-linked Mental Retardation
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Troms, Norway
    Am J Med Genet 64:1-14. 1996
  88. ncbi A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
    H Meijer
    Department of Clinical Genetics, Faculty of Medicine, University of Limburg, Maastricht, The Netherlands
    Hum Mol Genet 3:615-20. 1994
    ..Finally, the data provide additional evidence that the fragile X syndrome is a single gene disorder...
  89. ncbi Two new cases of FMR1 deletion associated with mental impairment
    M Hirst
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, England
    Am J Hum Genet 56:67-74. 1995
    ..Additionally, these cases highlight the need for the careful examination of the FMR1 gene, even in the absence of cytogenetic expression, particularly when several fragile X-like clinical features are present...
  90. ncbi Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein
    F Van Leuven
    Center for Human Genetics, University of Leuven, Belgium
    Genomics 25:492-500. 1995
    ..The first patient, with karyotype 46,XY,del4(p14-p16.1), had retained both copies of the LRPAP1 gene. In contrast, the other patient, with karyotype 46,XY,del4(p15.3-pter), displayed no signal for LRPAP1 on the deleted chromosome...
  91. ncbi 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
    ....
  92. ncbi p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001
    ..There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS...
  93. ncbi 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...
  94. ncbi 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
  95. ncbi 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...
  96. ncbi Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome?
    K Devriendt
    Genet Couns 15:103-4. 2004
  97. ncbi Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5
    Ph Debeer
    Center for Human Genetics, University of Leuven, Leuven, Belgium
    Genet Couns 15:67-71. 2004
    ..We present a boy with bilateral aplasia of the thumb, bilateral proximal radioulnar synostosis and unilateral fusion of metacarpals 4 and 5. Apart from a small, asymptomatic ASD, no other abnormalities were noted...
  98. ncbi Predictive testing for Huntington's disease: relationship with partners after testing
    M Decruyenaere
    Psychosocial Genetics Unit, University of Leuven Herestraat, Leuven, Belgium
    Clin Genet 65:24-31. 2004
    ..Counselling after testing should stimulate an open communication between partners with consideration of needs and anxieties of both partners...
  99. ncbi Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
    D M Ioan
    Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania
    Genet Couns 14:431-3. 2003
    ..The genetic basis of the Floating-Harbor syndrome is still unclear, and family data are in favour of autosomal recessive inheritance although germinal mosaicism for an autosomal dominant gene mutation cannot be fully excluded...
  100. ncbi Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome
    Ph Debeer
    Centre for Human Genetics, University Hospital Leuven, Belgium
    Genet Couns 14:95-100. 2003
    ..We describe another observation of asymmetrical Larsen syndrome. The unilateral manifestation of the typical skeletal defects indicates that this condition might be due to unilateral somatic cell-line mosaicism...
  101. ncbi 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...