Výsledky vyhledávání

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Autor: Thomas P. Potjer, K. Wimmer, Manon Suerink, A.B. Versluijs, C. Tops, S. W. ten Broeke, Maartje Nielsen

Publikováno v: Clinical Genetics. 93:134-137

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 with that of neurofib

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1cb599eb182b4ece8e611bfde59f32c8
https://doi.org/10.1111/cge.13053

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Declining Detection Rates for APC and Biallelic MUTYH Pathogenic Variants in Polyposis Patients, Implications for DNA Testing Policy

Autor: C. Tops, Sunny S Singh, Frederik J. Hes, Manon Suerink, Johan J.P. Gille, Alexandra M. J. Langers, Diantha Terlouw, J. T. van Wezel, Hans F. A. Vasen, S. W. ten Broeke, Maartje Nielsen, Hans Morreau, Yvonne J. Vos

Publikováno v: SSRN Electronic Journal.

Background: This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account several factors including adenoma count and year of diagnosis.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a374dee384a78b5668163af4fca5de1
https://doi.org/10.2139/ssrn.3371080

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Akademický článek

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Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

Autor: Hans F. A. Vasen, J. T. Wijnen, C. Tops, Anja Wagner, Aad Tibben, J. G. M. Klijn, C. A. Van Der Meer, Martinus F. Niermeijer, K Zwinderman, Hanne Meijers-Heijboer, M Kets

Publikováno v: Journal of medical genetics, 39(11), 833-837. BMJ Publishing Group
Journal of Medical Genetics, 39, 833-837. BMJ Publishing Group
Journal of Medical Genetics, 39, 833-7
Journal of Medical Genetics, 39, 11, pp. 833-7

About 5% of colorectal cancers are associated with the autosomal dominantly inherited cancer susceptibility syndrome hereditary non-polyposis colorectal cancer (HNPCC).1,2 HNPCC is characterised by a high risk of developing colorectal cancer and endo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69001ce53af807830d45137c93cd4baa
https://doi.org/10.1136/jmg.39.11.833

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Non-allelic heterogeneity of familial adenomatous polyposis

Autor: H. van der Klift, B. G. Taal, C. Tops, Gerrit Griffioen, P M Khan, R. B. van der Luijt, Hans F. A. Vasen

Publikováno v: American Journal of Medical Genetics. 47:563-567

Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::960f93d7671b495c1bf94831d53708a8
https://doi.org/10.1002/ajmg.1320470425

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[Untitled]

Autor: U. Moog, C. L. M. Marcelis, C. Tops, H. W. H. M. van der Putten, Ludy C.H.W. Lutgens

Publikováno v: Familial Cancer. 1:109-111

Hereditary Non-Polyposis Colorectal Cancer (HNPCC, Lynch syndrome) is an autosomal dominant condition of cancer susceptibility with high penetrance, characterised by early onset of colon tumours as well as a variety of extracolonic tumours including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1503566aa4ee1b70cef80090dc747d9
https://doi.org/10.1023/a:1013865323890

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