Rein P Stulp

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. pmc A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
    Els Van Riel
    Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Hered Cancer Clin Pract 8:7. 2010
  2. ncbi request reprint First report of a de novo germline mutation in the MLH1 gene
    Rein P Stulp
    Department of Clinical Genetics, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    World J Gastroenterol 12:809-11. 2006
  3. pmc Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
    Rein P Stulp
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hered Cancer Clin Pract 6:15-21. 2008

Collaborators

  • Rolf H Sijmons
  • Yvonne J Vos
  • Els Van Riel
  • Irma Kluijt
  • Jeanne van Echtelt
  • Karen Scheidel-Jacobse
  • Margreet Gem Ausems
  • G Johan A Offerhaus
  • Eric Fam Hennekam
  • Johan Jp Gille
  • Frans Bl Hogervorst
  • Marielle E van Gijn
  • Fred H Menko

Detail Information

Publications3

  1. pmc A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
    Els Van Riel
    Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands
    Hered Cancer Clin Pract 8:7. 2010
    ..The pathogenicity of this variant was unknown. We aim to elucidate the pathogenicity of this MLH1 variant in order to counsel these families adequately and to enable predictive testing in healthy at-risk relatives...
  2. ncbi request reprint First report of a de novo germline mutation in the MLH1 gene
    Rein P Stulp
    Department of Clinical Genetics, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
    World J Gastroenterol 12:809-11. 2006
    ..As guidelines that stress not to restrict MMR gene mutation testing to patients with a positive family history are more widely introduced, more cases of de novo MMR gene germline mutations may be revealed...
  3. pmc Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
    Rein P Stulp
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hered Cancer Clin Pract 6:15-21. 2008
    ..Uncommon Lynch syndrome-associated tumour types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical Lynch syndrome tumours are unavailable...