Louise Izatt

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. doi request reprint Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
    Heleen M van der Klift
    Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 37:1162-1179. 2016
  2. doi request reprint Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome
    Heleen M van der Klift
    Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 33:1051-5. 2012
  3. doi request reprint Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients
    Heleen M van der Klift
    Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden, The Netherlands
    Hum Mutat 31:578-87. 2010

Collaborators

  • Carli M J Tops
  • Maartje Nielsen
  • Marjolijn J L Ligtenberg
  • Heleen M van der Klift
  • Frederik J Hes
  • Juul T Wijnen
  • Peter Devilee
  • Anja Wagner
  • Elsa C Bik
  • Encarna Gomez Garcia
  • Liselotte P van Hest
  • Bert E J W Redeker
  • Hans J J P Gille
  • Tom G W Letteboer
  • Christi J van Asperen
  • Niels de Wind
  • Arjen R Mensenkamp
  • Maran J W Olderode-Berends
  • Sanne W Ten Broeke
  • Mark Drost
  • Senno Verhoef
  • Theo A van Os
  • Yvonne Tiersma
  • José B M Zonneveld
  • Yvonne J Vos
  • Kerstin B M Hansson
  • Margreet G E M Ausems
  • Hans F A Vasen
  • Annette H J T Vriends
  • Merel W Boogaard
  • Anne Marijke Borgstein
  • Hans Morreau
  • Wendy A G van Zelst-Stams
  • Andrew Green
  • Angel M Alonso

Detail Information

Publications3

  1. doi request reprint Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
    Heleen M van der Klift
    Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 37:1162-1179. 2016
    ..Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers...
  2. doi request reprint Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome
    Heleen M van der Klift
    Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 33:1051-5. 2012
    ..Especially large heterozygous insertions will remain unnoticed because of preferential amplification of the smaller wild-type allele in genomic DNA, and are probably underreported in the mutation spectra of autosomal dominant disorders...
  3. doi request reprint Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients
    Heleen M van der Klift
    Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden, The Netherlands
    Hum Mutat 31:578-87. 2010
    ..Four of these (21%) are lying in the region with frequent sequence transfer and are missed or called incorrectly as homozygous with several PSV-based mutation detection methods...