F A Hol

Summary

Affiliation: University Medical Center Nijmegen
Country: The Netherlands

Publications

  1. ncbi Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 69:174-81. 2000
  2. ncbi Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Clin Genet 53:119-25. 1998
  3. pmc PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Med Genet 33:655-60. 1996
  4. ncbi A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects
    R Klootwijk
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Hum Mol Genet 9:1615-22. 2000
  5. pmc A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Med Genet 32:52-6. 1995
  6. ncbi Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Am Soc Nephrol 11:1762-6. 2000
  7. doi A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum
    J van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Genet 78:275-81. 2010
  8. pmc Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects
    R Klootwijk
    J Med Genet 40:e43. 2003
  9. pmc Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family
    C G F de Kovel
    Department of Theoretical Biology, University of Leiden, NL 2311 GP Leiden, The Netherlands
    J Med Genet 41:652-7. 2004
  10. pmc Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
    N M Solomon
    Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Vic, 3052, Australia
    J Med Genet 41:669-78. 2004

Collaborators

  • H Scheffer
  • B Franke
  • N V Knoers
  • T Roscioli
  • I Zucchi
  • W G Johnson
  • B C Hamel
  • R Klootwijk
  • J van Reeuwijk
  • M M Löwik
  • N M Solomon
  • C G F de Kovel
  • J J H T Willemen
  • H G Brunner
  • M J W Olderode-Berends
  • O F Brouwer
  • H van Bokhoven
  • M G van Pampus
  • C van den Elzen
  • J F M Wetzels
  • L P W J van den Heuvel
  • E J Steenbergen
  • L A Sandkuijl
  • T Morgan
  • J L Belsky
  • G W Padberg
  • S M Forrest
  • P Q Thomas
  • N J Hopwood
  • A S Tan
  • S A Ross
  • S E Myers
  • G L Warne
  • J G A M Heister
  • P S Karnes
  • H Straatman
  • P Groenen
  • M Wu
  • R P M Steegers-Theunissen
  • E C M Mariman
  • W Wilms
  • C E Van der Zee
  • E C Mariman
  • R T de Boer

Detail Information

Publications11

  1. ncbi Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 69:174-81. 2000
    ..We place the putative gene between DXS1114 and DXS1200, corresponding to the interval defined by the duplication in the present family...
  2. ncbi Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Clin Genet 53:119-25. 1998
    ..However, the identification of a mutation in one family suggests that this gene can act as a risk factor for human NTD...
  3. pmc PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Med Genet 33:655-60. 1996
    ..Our findings so far do not support a major role of the PAX genes examined in the aetiology of NTD. However, the detection of a mutation in PAX1 suggests that, in principle, this gene can act as a risk factor for human NTD...
  4. ncbi A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects
    R Klootwijk
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Hum Mol Genet 9:1615-22. 2000
    ..These patients occasionally also show spina bifida, indicating that genetic variation in human ZIC3 may contribute to other congenital malformations, including neural tube defects...
  5. pmc A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    J Med Genet 32:52-6. 1995
    ....
  6. ncbi Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Am Soc Nephrol 11:1762-6. 2000
    ..In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found...
  7. doi A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum
    J van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Genet 78:275-81. 2010
    ..The clinical phenotype of the patients was consistent with Walker-Warburg syndrome, the most severe disorder in the disease spectrum of dystroglycanopathies...
  8. pmc Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects
    R Klootwijk
    J Med Genet 40:e43. 2003
  9. pmc Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family
    C G F de Kovel
    Department of Theoretical Biology, University of Leiden, NL 2311 GP Leiden, The Netherlands
    J Med Genet 41:652-7. 2004
    ..Dyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown...
  10. pmc Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
    N M Solomon
    Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Vic, 3052, Australia
    J Med Genet 41:669-78. 2004
    ..However, its ability to detect disease causing duplications in constitutional genomic DNA has not been shown. We developed an array CGH assay for X linked hypopituitarism, which is associated with duplication of Xq26-q27...
  11. ncbi Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis
    M M Löwik
    Department of Pediatrics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Nephrol Dial Transplant 20:336-41. 2005
    ..A sister of our patient had developed diabetes mellitus. We analysed the DNA for the presence of the mitochondrial DNA (mtDNA) A3243G transition...