John Nelson

Summary

Affiliation: Western Australia
Country: Australia

Publications

  1. ncbi request reprint Consanguineous marriage and its clinical consequences in migrants to Australia
    J Nelson
    Clinical Genetics Unit, Westmead Hospital, Sydney, New South Wales, Western Australia
    Clin Genet 52:142-6. 1997
  2. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
  3. ncbi request reprint Incidence of the mucopolysaccharidoses in Western Australia
    John Nelson
    Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Perth, Australia
    Am J Med Genet A 123:310-3. 2003
  4. ncbi request reprint Changing profile of couples seeking genetic counseling for consanguinity in Australia
    Katrina E Port
    Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
    Am J Med Genet A 132:159-63. 2005
  5. ncbi request reprint Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma
    Chandrakumar Balaratnasingam
    Centre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia
    Ophthalmic Genet 28:157-62. 2007
  6. doi request reprint Molecular study of 33 families with Fraser syndrome new data and mutation review
    M M van Haelst
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Med Genet A 146:2252-7. 2008

Collaborators

  • David A Mackey
  • Chandrakumar Balaratnasingam
  • Heiko Reutter
  • M Smith
  • A H Bittles
  • Lars R Jensen
  • M M van Haelst
  • Katrina E Port
  • Sinitdhorn Rujirabanjerd
  • Heinz Bartenschlager
  • Andreas Tzschach
  • Martine Raynaud
  • Andreas W Kuss
  • Astrid Nümann
  • Ralf Spörle
  • Ben Hamel
  • Anna Hackett
  • Andreas R Janecke
  • Arjan Pm de Brouwer
  • Sigmar Stricker
  • Jean Pierre Fryns
  • Jamel Chelly
  • Hans Hilger Ropers
  • Jozef Gecz
  • R C Hennekam
  • Saskia Maas
  • K Pearce
  • E Bland
  • Perez Aytes
  • Raoul Hennekam
  • Heloise Santos
  • S Jadeja
  • Andrew Wilkie
  • Bronwyn Kerr
  • Lihadt Al Gazali
  • Dian Donnai
  • Louise Wilson
  • Sue Holder
  • Nicole Philip
  • P J Scambler
  • Arianna Bonato
  • Frances Elmslie
  • G Baujat
  • Brigitte Gilbert
  • Christine Francannet
  • Christel Thauvin
  • Serge Melancon
  • John Graham
  • Willie Reardon
  • Alina Midro
  • John Tolmie
  • M Maiburg
  • Peter Scambler
  • Jose Ferreira
  • Eva Todos
  • Peter Meinecke
  • Mieke van Haelst
  • Angus Dobbie
  • Ton Van Essen
  • David Chitayat
  • E Monti
  • Andre Megarbane
  • Helen Mountain

Detail Information

Publications6

  1. ncbi request reprint Consanguineous marriage and its clinical consequences in migrants to Australia
    J Nelson
    Clinical Genetics Unit, Westmead Hospital, Sydney, New South Wales, Western Australia
    Clin Genet 52:142-6. 1997
    ..The effects of parental consanguinity are assessed both in terms of the specific recessive disorders detected, and the perceived role of consanguineous marriage in the communities investigated...
  2. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
    ..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated...
  3. ncbi request reprint Incidence of the mucopolysaccharidoses in Western Australia
    John Nelson
    Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Perth, Australia
    Am J Med Genet A 123:310-3. 2003
    ..The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 29,000 live births. A comparison is made with incidence estimates obtained from other published studies...
  4. ncbi request reprint Changing profile of couples seeking genetic counseling for consanguinity in Australia
    Katrina E Port
    Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
    Am J Med Genet A 132:159-63. 2005
    ..5% of all consanguineous consultants. With ongoing migration, changes in the ethnic profiles and the specific counseling requirements of consanguineous couples can be expected to continue and probably accelerate...
  5. ncbi request reprint Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma
    Chandrakumar Balaratnasingam
    Centre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia
    Ophthalmic Genet 28:157-62. 2007
    ..To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where 3 children out of 4 suffer from primary infantile glaucoma (PIG)...
  6. doi request reprint Molecular study of 33 families with Fraser syndrome new data and mutation review
    M M van Haelst
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Med Genet A 146:2252-7. 2008
    ..Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well...