P J Coucke

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. pmc Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
    P J Coucke
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 40:747-51. 2003
  2. 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
  3. doi request reprint Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
    A Willaert
    Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Med Genet 46:233-41. 2009
  4. ncbi request reprint Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
    G Van Camp
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Genomics 41:70-4. 1997
  5. ncbi request reprint Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene
    K Kastury
    Department of Internal Medicine, Charles R Drew University of Medicine and Science, Los Angeles, California 90059, USA
    J Clin Endocrinol Metab 82:3047-53. 1997
  6. ncbi request reprint Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11
    K Kastury
    Genomics Corporation, Foster City, CA 94404, USA
    Genomics 44:362-4. 1997
  7. ncbi request reprint Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    P J Coucke
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Mol Genet 8:1321-8. 1999
  8. doi request reprint Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
    B L Callewaert
    Genesis 46:385-9. 2008

Collaborators

  • M W Wessels
  • S Barlati
  • J G Leroy
  • R C M Hennekam
  • K Devriendt
  • G Gillessen Kaesbach
  • Richard J Smith
  • Robbert J H Ensink
  • Shelley Smith
  • E L Wakeling
  • A Willaert
  • B L Callewaert
  • J De Backer
  • B L Loeys
  • A M De Paepe
  • K Kastury
  • G Van Camp
  • P Van Hauwe
  • S Symoens
  • H Kayserili
  • G Mortier
  • A De Paepe
  • A Megarbane
  • F Malfait
  • K Gevaert
  • O N Krogmann
  • M Doco-Fenzy
  • W S Kerstjens-Frederikse
  • P Dewint
  • C Casteleyn
  • B Albrecht
  • R E Pyeritz
  • P Simoens
  • R Dekens
  • M A Ramos-Arroyo
  • G Gillessen-Kaesbach
  • M Barrow
  • P Mauran
  • S Nik-Zainal
  • C Booth
  • C Francannet
  • R Sedlmeier
  • M Gutierrez
  • W E Taylor
  • S Bhasin
  • M van Ewijk
  • P H Van de Heyning
  • F Declau
  • C E Fisher
  • S Arver
  • R Shen
  • J Meyers
  • I Schatteman
  • L Ramirez
  • C W Cremers
  • P J Willems
  • B Djelantik
  • H Kunst
  • D van Velzen
  • J Kenyon
  • H Marres

Detail Information

Publications8

  1. pmc Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
    P J Coucke
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 40:747-51. 2003
    ..Arterial tortuosity syndrome (ATS) is an uncommon connective tissue disorder of unknown aetiology. The most prominent feature is tortuosity of the large arteries, but lengthening, stenosis, and aneurysm formation are also frequent...
  2. 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...
  3. doi request reprint Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
    A Willaert
    Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Med Genet 46:233-41. 2009
    ..These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue in both the type I and type II collagen alpha1-chains...
  4. ncbi request reprint Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
    G Van Camp
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Genomics 41:70-4. 1997
    ..These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss...
  5. ncbi request reprint Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene
    K Kastury
    Department of Internal Medicine, Charles R Drew University of Medicine and Science, Los Angeles, California 90059, USA
    J Clin Endocrinol Metab 82:3047-53. 1997
    ..Cloning of the hp28 cDNA and mapping of the intron-exon junctions should now make it possible to test whether a subset of ICS is a consequence of mutations in the human axonemal dynein light chain gene hp28...
  6. ncbi request reprint Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11
    K Kastury
    Genomics Corporation, Foster City, CA 94404, USA
    Genomics 44:362-4. 1997
    ..The hypothesis that mutations in some dynein genes are associated with nonsyndromic deafness should now be tested...
  7. ncbi request reprint Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    P J Coucke
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Mol Genet 8:1321-8. 1999
    ....
  8. doi request reprint Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
    B L Callewaert
    Genesis 46:385-9. 2008
    ..We conclude that these mouse strains do not phenocopy human ATS and cannot help the further elucidation of pathogenetic mechanisms underlying this disease...