A K Lampe

Summary

Country: UK

Publications

  1. ncbi Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
    A K Lampe
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Mutat 29:809-22. 2008
  2. ncbi Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    J Med Genet 42:108-20. 2005
  3. ncbi Collagen VI related muscle disorders
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
    J Med Genet 42:673-85. 2005
  4. ncbi A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
    C Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Neuromuscul Disord 16:571-82. 2006
  5. ncbi A refined diagnostic algorithm for Bethlem myopathy
    D Hicks
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, Great Britain
    Neurology 70:1192-9. 2008
  6. ncbi Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
    A K Lampe
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Arch Dis Child 87:444-5. 2002

Collaborators

Detail Information

Publications6

  1. ncbi Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
    A K Lampe
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Mutat 29:809-22. 2008
    ....
  2. ncbi Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    J Med Genet 42:108-20. 2005
    ..The large number of single nucleotide polymorphisms which we generated in the course of this work may be of importance in determining the major phenotypic variability seen in this group of disorders...
  3. ncbi Collagen VI related muscle disorders
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
    J Med Genet 42:673-85. 2005
    ..Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders...
  4. ncbi A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
    C Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Neuromuscul Disord 16:571-82. 2006
    ..In contrast, immunohistochemical analysis of skin biopsies may not always reveal an underlying collagen VI defect...
  5. ncbi A refined diagnostic algorithm for Bethlem myopathy
    D Hicks
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, Great Britain
    Neurology 70:1192-9. 2008
    ..Unlike UCMD, BM is difficult to diagnose because of its clinical overlap with other contractural phenotypes and the lack of sensitivity of standard muscle biopsy immunohistochemical diagnostic techniques...
  6. ncbi Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
    A K Lampe
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Arch Dis Child 87:444-5. 2002
    ..His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases...