Stéphanie Baert Desurmont

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Baert Desurmont

Publications in SciGraph latest 50 shown

  • 2018-12 Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation in GENETICS IN MEDICINE
  • 2018-11 Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-10 Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation in FAMILIAL CANCER
  • 2016-01 Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-11 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-03 The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome in FAMILIAL CANCER
  • 2014-03 Diversity of the clinical presentation of the MMR gene biallelic mutations in FAMILIAL CANCER
  • 2012-05 Reply to Talseth-Palmer et al in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-08 Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-04 Allelic imbalance of the TGFβR1 is not a major contributor to the genetic predisposition to colorectal cancer in BRITISH JOURNAL OF CANCER
  • 2008-12 The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome in FAMILIAL CANCER
  • 2007-03 Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer in EUROPEAN JOURNAL OF HUMAN GENETICS
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