Christine Em De Die-Smulders

Summary

Affiliation: Maastricht University
Country: The Netherlands

Publications

  1. ncbi request reprint Age and causes of death in adult-onset myotonic dystrophy
    C E de Die-Smulders
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Brain 121:1557-63. 1998
  2. ncbi request reprint Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding
    C E de Die-Smulders
    Department of Molecular Cell Biology and Genetics, Maastricht University, Maastricht, The Netherlands
    Am J Med Genet 86:385-8. 1999
  3. ncbi request reprint Lateral facial clefts: a case report
    C E de Die-Smulders
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Genet Couns 12:163-5. 2001
  4. ncbi request reprint [Results from 10 years of preimplantation-genetic diagnostics in The Netherlands]
    C E M de Die-Smulders
    afd Klinische Genetica, Academisch Ziekenhuis, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 148:2491-6. 2004
  5. ncbi request reprint [From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1]
    C E M de Die-Smulders
    Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 149:2043-6. 2005
  6. pmc Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, Maastricht, AZ, 6202, The Netherlands
    J Cardiovasc Magn Reson 14:48. 2012

Collaborators

  • U Moog
  • J P Fryns
  • Mieke C E Hermans
  • Ingemar S J Merkies
  • Sebastiaan C A M Bekkers
  • Simon Schalla
  • Catharina G Faber
  • Gabriel Snoep
  • Yigal M Pinto
  • Monique M Gerrits

Detail Information

Publications6

  1. ncbi request reprint Age and causes of death in adult-onset myotonic dystrophy
    C E de Die-Smulders
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Brain 121:1557-63. 1998
    ..Half of the patients studied were either partially or totally wheelchair-bound shortly before their death...
  2. ncbi request reprint Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding
    C E de Die-Smulders
    Department of Molecular Cell Biology and Genetics, Maastricht University, Maastricht, The Netherlands
    Am J Med Genet 86:385-8. 1999
    ..The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized...
  3. ncbi request reprint Lateral facial clefts: a case report
    C E de Die-Smulders
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Genet Couns 12:163-5. 2001
    ..The unique combination of facial anomalies, present in this patient, has not been reported before. We discuss the differential diagnosis and the classification of facial clefts...
  4. ncbi request reprint [Results from 10 years of preimplantation-genetic diagnostics in The Netherlands]
    C E M de Die-Smulders
    afd Klinische Genetica, Academisch Ziekenhuis, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 148:2491-6. 2004
    ..To report the data from couples who were referred for preimplantation-genetic diagnostics (PGD) and treatment due to a significantly increased risk of offspring with a serious genetic disorder...
  5. ncbi request reprint [From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1]
    C E M de Die-Smulders
    Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 149:2043-6. 2005
    ..Furthermore, reduced DMPK protein levels are present and it is proposed that the expanded CTG repeat has a local effect on genes in the myotonic dystrophy type 1 region by altering the chromatin structure...
  6. pmc Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, Maastricht, AZ, 6202, The Netherlands
    J Cardiovasc Magn Reson 14:48. 2012
    ..Considering the importance of cardiomyopathy as a predictor of prognosis, we aimed to systematically evaluate and describe structural and functional cardiac alterations in patients with MD1...