J Hendrickx

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi request reprint Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Pediatr 157:919-23. 1998
  2. ncbi request reprint Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family
    W Van Hul
    Department of Medical Genetics, University of Antwerp, Belgium
    Genomics 47:230-7. 1998
  3. ncbi request reprint X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase
    J Hendrickx
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 5:649-52. 1996
  4. pmc Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Hum Genet 62:346-54. 1998
  5. ncbi request reprint Identification and characterization of a novel member of the EXT gene family, EXTL2
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 5:382-9. 1997
  6. pmc Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 64:1541-9. 1999
  7. ncbi request reprint X-linked liver glycogenosis: localization and isolation of a candidate gene
    J Hendrickx
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 2:583-9. 1993
  8. ncbi request reprint Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 4:77-83. 1995
  9. ncbi request reprint Positional cloning of a gene involved in hereditary multiple exostoses
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mol Genet 5:1547-57. 1996
  10. ncbi request reprint A point mutation in the FMR-1 gene associated with fragile X mental retardation
    K De Boulle
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Nat Genet 3:31-5. 1993

Collaborators

  • W Wuyts
  • B A Oostra
  • M Tuchman
  • W Van Hul
  • K De Boulle
  • P J Willems
  • J Wauters
  • F Speleman
  • N van Roy
  • P Bossuyt
  • Y Geng
  • J G Wauters
  • E Reyniers
  • E de Graaff
  • A J Verkerk
  • P J Barnard
  • P R Willems
  • L Vits
  • B Van Roy
  • P Coucke
  • J M Derry
  • F van den Bos
  • J Davidson
  • P J Bossuyt
  • M W Kilimann

Detail Information

Publications12

  1. ncbi request reprint Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Pediatr 157:919-23. 1998
    ..A missense mutation replacing arginine at amino acid position 186 by histidine (R186H) was identified in the PHKA2 gene. Mutations of the same arginine residue have been previously found in at least four other unrelated XLG II patients...
  2. ncbi request reprint Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family
    W Van Hul
    Department of Medical Genetics, University of Antwerp, Belgium
    Genomics 47:230-7. 1998
    ..In view of its putative tumor suppressor function, the EXTL3 gene can be considered a candidate gene for the breast cancer locus on chromosome 8p12-p22...
  3. ncbi request reprint X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase
    J Hendrickx
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 5:649-52. 1996
    ..These findings might explain why the in vitro PHK enzymatic activity is not deficient in XLG II, whereas it is in XLG I...
  4. pmc Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Hum Genet 62:346-54. 1998
    ..The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function...
  5. ncbi request reprint Identification and characterization of a novel member of the EXT gene family, EXTL2
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 5:382-9. 1997
    ..In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31...
  6. pmc Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 64:1541-9. 1999
    ....
  7. ncbi request reprint X-linked liver glycogenosis: localization and isolation of a candidate gene
    J Hendrickx
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 2:583-9. 1993
    ..Fluorescent in situ hybridization mapped human PHKA2 to Xp22. As this physical mapping coincides with the genetic mapping of XLG by linkage analysis, PHKA2 most probably harbours the mutation(s) responsible for XLG...
  8. ncbi request reprint Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
    J Hendrickx
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 4:77-83. 1995
    ..These findings indicate that PHKA2 is the XLG I gene...
  9. ncbi request reprint Positional cloning of a gene involved in hereditary multiple exostoses
    W Wuyts
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mol Genet 5:1547-57. 1996
    ..EXT2 has an open reading frame encoding 718 amino acids with an overall homology of 30.9% with EXT1, suggesting that a family of related genes might be responsible for the development of EXT...
  10. ncbi request reprint A point mutation in the FMR-1 gene associated with fragile X mental retardation
    K De Boulle
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Nat Genet 3:31-5. 1993
    ..Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA...
  11. ncbi request reprint Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp
    J G Wauters
    Department of Medical Genetics, University of Antwerp U I A, Belgium
    Cytogenet Cell Genet 60:194-6. 1992
    ..The localization of this gene in the same chromosomal region as the disease gene responsible for XLG suggests that the liver PHKA gene is a highly likely candidate gene for the XLG mutation...
  12. ncbi request reprint Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosome
    Y Geng
    MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom
    Genomics 15:191-3. 1993
    ..This mapping position would suggest a location for the human liver alpha-subunit gene on the proximal short arm of the X chromosome, a region recently implicated in X-linked liver glycogenosis (XLG)...