C M Tops
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Explore the profile of C M Tops including associated specialties, affiliations and a list of published articles.
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22
Citations
238
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Recent Articles
1.
Terlouw D, Boot A, Ducarmon Q, Nooij S, Jessurun M, van Leerdam M, et al.
Genes Chromosomes Cancer
. 2023 Oct;
63(1):e23208.
PMID: 37795928
Polyketide synthase (pks) island harboring Escherichia coli are, under the right circumstances, able to produce the genotoxin colibactin. Colibactin is a risk factor for the development of colorectal cancer and...
2.
Suerink M, Potjer T, Versluijs A, Ten Broeke S, Tops C, Wimmer K, et al.
Clin Genet
. 2017 May;
93(1):134-137.
PMID: 28503822
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps...
3.
Hoekstra A, van den Ende B, Julia X, van Breemen L, Scheurwater K, Tops C, et al.
Clin Genet
. 2016 Aug;
91(4):536-544.
PMID: 27485256
Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with hereditary paraganglioma and pheochromocytoma. Although most mutations in SDHB, SDHC and SDHD are intraexonic variants, large germline...
4.
Ghorbanoghli Z, Nieuwenhuis M, Houwing-Duistermaat J, Jagmohan-Changur S, Hes F, Tops C, et al.
Fam Cancer
. 2016 Feb;
15(4):563-70.
PMID: 26880076
Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk...
5.
Konvalinka D, Bik E, Tops C, Bakker E, Singh A, Vrtel R, et al.
Cas Lek Cesk
. 2004 Sep;
143(8):543-6.
PMID: 15446460
Background: Protein Truncation Test (PTT) was used to detect mutations in exon 15 of the APC gene in patients with Familial Adenomatous Polyposis. This method is limited by its ability...
6.
van der Luijt R, Tops C, Vasen H
Ned Tijdschr Geneeskd
. 2000 Nov;
144(42):2007-9.
PMID: 11072519
Familial adenomatous polyposis coli is an autosomal dominant hereditary form of colorectal cancer associated with mutations in the adenomatous polyposis coli (APC) gene on chromosome 5. The APC protein is...
7.
Menko F, Griffioen G, Wijnen J, Tops C, Fodde R, Vasen H
Ned Tijdschr Geneeskd
. 1999 Jul;
143(23):1207-11.
PMID: 10389535
About 15% of patients with colorectal cancer have a positive family history: 5% have hereditary colorectal cancer (hereditary non-polyposis colorectal carcinoma (HNPCC), familial adenomatous polyposis (FAP) or some other hereditary...
8.
Menko F, Griffioen G, Wijnen J, Tops C, Fodde R, Vasen H
Ned Tijdschr Geneeskd
. 1999 Jul;
143(23):1201-6.
PMID: 10389534
About 5% of colorectal cancer cases are due to an autosomal dominant genetic predisposition with high penetrance. In this condition, the patient is carrier of a pathogenic gene mutation present...
9.
van der Luijt R, Khan P, Vasen H, Tops C, Wijnen J, van der Klift H, et al.
Hum Mutat
. 1997 Jan;
9(1):7-16.
PMID: 8990002
Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. We screened the entire coding region of...
10.
van der Luijt R, Meera Khan P, Vasen H, Breukel C, Tops C, Scott R, et al.
Hum Genet
. 1996 Dec;
98(6):727-34.
PMID: 8931709
Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis...