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Best Practice & Research. Clinical Gastroenterology|May 6, 2009
Introduction to molecular and clinical genetics of colorectal cancer syndromesCarli M J Tops, Juul Th Wijnen, Frederik J Hes
Familial Cancer|March 8, 2021
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patientsFadwa A Elsayed, Carli M J Tops, Maartje Nielsen, et al.
Molecular Genetics & Genomic Medicine|March 4, 2019
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polypsFadwa A Elsayed, Carli M J Tops, Maartje Nielsen, et al.
European Journal of Human Genetics : EJHG|June 15, 2007
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature reviewMaartje Nielsen, Elsa Bik, Frederik J Hes, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analysesHeleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 4, 2008
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissueMarjo van Puijenbroek, Maartje Nielsen, Carli M J Tops, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 21, 2012
Infiltration of Lynch colorectal cancers by activated immune cells associates with early staging of the primary tumor and absence of lymph node metastasesNoel F C C de Miranda, Danny Goudkade, Ekaterina S Jordanova, et al.
European Journal of Human Genetics : EJHG|October 17, 2019
The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded materialAnne M L Jansen, Carli M J Tops, Dina Ruano, et al.
CA: a Cancer Journal for Clinicians|July 28, 2006
Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for cliniciansYvonne M C Hendriks, Andrea E de Jong, Hans Morreau, et al.
Frontiers in Oncology|September 4, 2023
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case reportFiras Akrout, Ahlem Achour, Carli M J Tops, et al.
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