Marjolijn C J Jongmans

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:426-33. 2012
  2. pmc CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome
    M C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Genet 75:65-71. 2009
  3. doi request reprint Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genes Chromosomes Cancer 49:635-41. 2010
  4. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 19:870-4. 2011
  5. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008

Detail Information

Publications5

  1. pmc Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Am J Hum Genet 90:426-33. 2012
    ..This shows that revertant mosaicism is a recurrent event in DC. This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC...
  2. pmc CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome
    M C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Genet 75:65-71. 2009
    ..If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended...
  3. doi request reprint Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genes Chromosomes Cancer 49:635-41. 2010
    ..Sequence analysis of the SOS1 gene in 20 sporadic ERMS tumors failed to reveal any pathogenic mutations, implicating that SOS1 is not a major player in the development of this tumor outside the context of NS...
  4. pmc Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 19:870-4. 2011
    ..In conclusion, this study provides first evidence of an increased risk of cancer in patients with NS and a PTPN11 mutation, compared with that in the general population. Our data do not warrant specific cancer surveillance...
  5. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008
    ..These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members...