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H. van der Klift

Researcher at Leiden University

Publications -  14
Citations -  1444

H. van der Klift is an academic researcher from Leiden University. The author has contributed to research in topics: Adenomatous polyposis coli & Familial adenomatous polyposis. The author has an hindex of 12, co-authored 14 publications receiving 1426 citations.

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Familial endometrial cancer in female carriers of MSH6 germline mutations

TL;DR: Hereditary non-polyposis colorectal cancer was shown to be caused by germline mutations in the DNA mismatch repair genes MSH2, MLH1, PMS1,PMS2 and MSH6, and many HNPCC families do not fully comply with the clinical Amsterdam criteria, and the causative mutations are unknown.
Journal Article

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16

TL;DR: While the spectrum of mutations at the hMSH2 gene among HNPCC patients appears heterogeneous, a cluster of hMLH1 mutations has been found in the region encompassing exons 15 and 16, which accounts for 50% of all the independent hMLh1 mutations described to date and for > 20% of the unrelated HNP CC kindreds here analyzed.
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Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers.

TL;DR: An informative Dutch pedigree showed that two other linked polymorphic DNA markers, Pi227 and YN5.48, closely flank the FAP locus, one on either side, which will allow prenatal and presymptomatic diagnosis of FAP.