H. M. van der Klift

发表

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice‐site prediction programs

Peter Devilee, P. Devilee, C. V. van Asperen, 2009, Human mutation.

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

R. Fodde, R. B. van der Luijt, G. Griffioen, 1997, Human mutation.

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

E. Kuipers, J. Houwing-Duistermaat, T. Reinards, 2005, Journal of Medical Genetics.

Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer

J. Houwing-Duistermaat, R. Houlston, P. Devilee, 2010, Genes, chromosomes & cancer.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

J. Houwing-Duistermaat, David Evans, S. Nikolaev, 2019, Genetics in Medicine.

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

A. Wagner, H. Morreau, M. Breuning, 2006, Gastroenterology.

Non-allelic heterogeneity of familial adenomatous polyposis.

R. B. van der Luijt, G. Griffioen, H. Vasen, 1993, American journal of medical genetics.

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer

J. Houwing-Duistermaat, P. Devilee, H. Morreau, 2007, BMC Cancer.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

P. Møller, A. Lindblom, A. Wagner, 2015, Journal of Clinical Oncology.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

A. de la Chapelle, H. Meijers-Heijboer, A. Wagner, 2003, American journal of human genetics.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

P. Møller, O. Dekkers, A. Lindblom, 2015, Genetics in Medicine.

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

R. Hofstra, A. Karrenbeld, J. Kleibeuker, 2011, European journal of cancer.

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients

A. Green, P. Devilee, A. Wagner, 2010, Human mutation.

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.

Inge, J. Kleibeuker, D. Lindhout, 1995, American journal of human genetics.

CA repeat polymorphism at the D5S82 locus, proximal to adenomatous polyposis coli (APC).

Y. Nakamura, R. Fodde, C. Tops, 1991, Nucleic acids research.

Prostate cancer is part of the hereditary non‐polyposis colorectal cancer (HNPCC) tumor spectrum

P. Hutter, R. Fodde, J. Blouin, 2003, American journal of medical genetics. Part A.

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome

P. Devilee, C. Tops, J. Wijnen, 2012, Human mutation.

Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome

Z. Stadler, Yirong Li, Magan Trottier, 2020, Genes, chromosomes & cancer.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

R. Maroofian, C. Ruivenkamp, H. V. van Duyvenvoorde, 2022, European Journal of Human Genetics.

CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC).

R. Fodde, C. Tops, C. Breukel, 1991, Nucleic acids research.

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

P. Møller, P. Hutter, W. Foulkes, 2005, Genes, chromosomes & cancer.

Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene

P. Devilee, H. Morreau, C. Cornelisse, 2003, Genes, chromosomes & cancer.

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

P. Devilee, C. Tops, J. Wijnen, 2015, Molecular genetics & genomic medicine.

Cancer Risks for PMS2-Associated Lynch Syndrome.

Aung Ko Win, M. von Knebel Doeberitz, P. Møller, 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

P. Møller, P. Radice, K. Devarajan, 2015, Oncotarget.

A 10‐Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North‐American kindred

A. Wagner, R. Fodde, P. Franken, 2002, Genes, chromosomes & cancer.

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

H. Morreau, T. van Wezel, C. Tops, 2018, European Journal of Human Genetics.

Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

A. Zwinderman, K. Heimdal, P. Møller, 1998, The New England journal of medicine.

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

P. Devilee, A. Wagner, H. Morreau, 2016, PloS one.

Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders.

M. Vreeswijk, H. M. van der Klift, 2012, Methods in molecular biology.

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.

A. de la Chapelle, A. Wagner, R. Fodde, 2004, JAMA.

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

R. Fodde, R. B. van der Luijt, G. Griffioen, 1992, Genomics.

CA repeat polymorphism within the MCC (mutated in colorectal cancer) gene.

L. Deaven, R. Fodde, C. Tops, 1991, Nucleic acids research.

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

R. Fodde, R. B. van der Luijt, H. Vasen, 1995, Genes, chromosomes & cancer.

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

P. Møller, R. Fodde, M. Losekoot, 1997, American journal of human genetics.

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

A. Cats, R. Fodde, R. Kolodner, 1996, American journal of human genetics.

CA repeat polymorphism from YAC JW25 at the D5S318 locus, distal to adenomatous polyposis coli (APC).

R. Fodde, C. Tops, J. Wijnen, 1991, Nucleic acids research.

AT repeat polymorphism at the D5S122 locus tightly linked to adenomatous polyposis coli (APC).

R. Fodde, C. Tops, C. Breukel, 1991, Nucleic acids research.

Spectrum of genetic alterations in Muir‐Torre syndrome is the same as in HNPCC

P. Radice, R. Fodde, G. Cetto, 2004, American journal of medical genetics. Part A.

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

H. Morreau, T. van Wezel, C. Tops, 2018, European Journal of Human Genetics.

MSH2 genomic deletions are a frequent cause of HNPCC

P. Møller, D. Lindhout, H. Vasen, 1998, Nature Genetics.

PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERS

F. Nagengast, G. Griffioen, C. Tops, 1989, The Lancet.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

P. Møller, A. Lindblom, I. Bernstein, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

H. V. van Duyvenvoorde, S. Berntsson, A. Landtblom, 2023, Frontiers in genetics.