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

المصدر: Clinical Genetics. 93:134-137

مصطلحات موضوعية: 0301 basic medicine, Legius syndrome, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, Cancer, medicine.disease, Lynch syndrome, nervous system diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, PMS2, Medicine, DNA mismatch repair, Neurofibromatosis, Differential diagnosis, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1cb599eb182b4ece8e611bfde59f32c8Test
https://doi.org/10.1111/cge.13053Test

المؤلفون: H. F. A. Vasen, Y. Hendriks, A. E. de Jong, M. van Puijenbroek, C. Tops, A. H. J. T. Bröcker-Vriends, J. Th. Wijnen, H. Morreau

المصدر: Disease Markers, Vol 20, Iss 4-5, Pp 207-213 (2004)

مصطلحات موضوعية: Medicine (General), R5-920

العلاقة: http://dx.doi.org/10.1155/2004/391039Test; https://doaj.org/toc/0278-0240Test; https://doaj.org/toc/1875-8630Test; https://doaj.org/article/1142d3b58e154632bd87c26299493e9cTest

الإتاحة: https://doi.org/10.1155/2004/391039Test
https://doaj.org/article/1142d3b58e154632bd87c26299493e9cTest

المؤلفون: H F A Vasen, Y Hendriks, A E De Jong, M Van Puijenbroek, C Tops, A H J T Bröcker-Vriends, J Th Wijnen, H Morreau

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://downloads.hindawi.com/journals/dm/2004/391039.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1037.8704Test; http://downloads.hindawi.com/journals/dm/2004/391039.pdfTest

الإتاحة: http://downloads.hindawi.com/journals/dm/2004/391039.pdfTest

المؤلفون: 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

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Oncology, medicine.medical_specialty, medicine.diagnostic_test, Adenoma, Colorectal cancer, business.industry, MUTYH-Associated Polyposis, Odds ratio, medicine.disease, medicine.disease_cause, digestive system diseases, Familial adenomatous polyposis, MUTYH, Internal medicine, medicine, KRAS, business, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a374dee384a78b5668163af4fca5de1Test
https://doi.org/10.2139/ssrn.3371080Test

المؤلفون: 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

المساهمون: Epidemiology and Data Science, Human Genetics, Surgery, Clinical Genetics, Medical Oncology

المصدر: 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

مصطلحات موضوعية: Adult, Oncology, Heterozygote, medicine.medical_specialty, Time Factors, Colorectal cancer, Elucidation of hereditary disorders and their molecular diagnosis, Genetic counseling, MLH1, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Risk Factors, Proto-Oncogene Proteins, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Adaptor Proteins, Signal Transducing, Aged, Genetic testing, Aged, 80 and over, Family Health, medicine.diagnostic_test, business.industry, Nuclear Proteins, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Neoplasm Proteins, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, MSH2, Multivariate Analysis, Mutation, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Carrier Proteins, MutL Protein Homolog 1, business, Letter to JMG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69001ce53af807830d45137c93cd4baaTest
https://doi.org/10.1136/jmg.39.11.833Test

المؤلفون: Fred H. Menko, D.A.M. Heideman, Paul C Johannesma, TJ Postma, C. Tops, H te Riele, Juul T. Wijnen, Majm Jacobs, D Troost, Nct van Grieken, H. van der Klift

المساهمون: Human genetics, Pathology, Gastroenterology and hepatology, Neurology, CCA - Oncogenesis, Amsterdam Neuroscience

المصدر: Johannesma, P C, van der Klift, H M, van Grieken, N C T, Troost, D, te Riele, H, Jacobs, M A J M, Postma, T J, Heideman, D A M, Tops, C M J, Wijnen, J T & Menko, F H 2011, ' Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations ', Clinical Genetics, vol. 80, no. 3, pp. 243-255 . https://doi.org/10.1111/j.1399-0004.2011.01635.xTest
Clinical Genetics, 80(3), 243-255. Wiley-Blackwell
Clinical genetics, 80(3), 243-255. Wiley-Blackwell
None

مصطلحات موضوعية: Adenoma, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Biology, Gene mutation, DNA Mismatch Repair, Germline, Young Adult, Germline mutation, Genetics, PMS2, medicine, Humans, Age of Onset, Child, Genetics (clinical), Germ-Line Mutation, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Brain Neoplasms, Siblings, Glioma, Syndrome, medicine.disease, Lynch syndrome, digestive system diseases, Pedigree, MSH6, DNA-Binding Proteins, DNA Repair Enzymes, MSH2, Cancer research, DNA mismatch repair, Female, Colorectal Neoplasms, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a943687b2d50fc062736ac960e913cTest
https://research.vumc.nl/en/publications/ebdb4783-f75f-4c1c-86c0-5d74572c9dc0Test

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

المصدر: American Journal of Medical Genetics. 47:563-567

مصطلحات موضوعية: Male, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, biology, Genetic Linkage, Adenomatous polyposis coli, Genetic counseling, Autosomal dominant trait, Locus (genetics), medicine.disease, digestive system diseases, Pedigree, Familial adenomatous polyposis, Radiography, Adenomatous Polyposis Coli, Genetic linkage, biology.protein, medicine, Humans, Female, Allelic heterogeneity, Allele, neoplasms, Alleles, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::960f93d7671b495c1bf94831d53708a8Test
https://doi.org/10.1002/ajmg.1320470425Test

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

المصدر: Familial Cancer. 1:109-111

مصطلحات موضوعية: Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, Colorectal cancer, Genetic counseling, nutritional and metabolic diseases, Cancer, Biology, medicine.disease, Debulking, digestive system diseases, Lynch syndrome, Germline mutation, Internal medicine, Genetics, medicine, Cancer research, PMS2, Ovarian cancer, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b1503566aa4ee1b70cef80090dc747d9Test
https://doi.org/10.1023/a:1013865323890Test

المؤلفون: M. van Puijenbroek, Hans Morreau, C. Tops, Juul T. Wijnen, N. ter Haar, Ekaterina S. Jordanova, R. van Eijk, Jan Oosting, E. H. Lips, Maartje Nielsen, Anneke Middeldorp, Frederik J. Hes, Wim E. Corver, Hans F. A. Vasen, T. van Wezel

المساهمون: Clinical sciences, Medical Genetics, Faculty of Psychology and Educational Sciences

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, MUTYH, Colorectal cancer, DNA Mutational Analysis, Loss of Heterozygosity, MAP carcinomas, colorectal cancer, Biology, DNA Glycosylases, Pathology and Forensic Medicine, Loss of heterozygosity, Chromosome instability, Chromosomal Instability, medicine, Biomarkers, Tumor, Humans, Colorectal adenomatous polyposis, neoplasms, Aged, SNP arrays, medicine.diagnostic_test, MUTYH-Associated Polyposis, Microsatellite instability, Cancer, Middle Aged, medicine.disease, Tumour profiling, digestive system diseases, Copy-neutral LOH, Adenomatous Polyposis Coli, Cancer research, Microsatellite Instability, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfec242297ed330c91e33d845a06a4dcTest
https://biblio.vub.ac.be/vubir/high-frequency-of-copyneutral-loh-in-mutyhassociated-polyposis-carcinomasTest(8d233bb4-de12-4a0a-9e32-bda3d8630306).html

المؤلفون: Riccardo Fodde, S. Kloosterman, Nicoline Hoogerbrugge, Jeanine J. Houwing-Duistermaat, S. Verhoef, A Wagner, M. G. E. M. Ausems, Frederik J. Hes, Hans Morreau, Patrick Franken, H. van der Klift, T H C M Reinards, A H J T Bröcker-Vriends, C. Tops, Ernst J. Kuipers, Juul T. Wijnen, E. B. Gomez Garcia, Martijn H. Breuning, Rolf H. Sijmons, Cora M. Aalfs, Hans F. A. Vasen, Maartje Nielsen, Fred H. Menko, Marjan M. Weiss

المساهمون: VU University medical center, Pathology, Clinical Genetics, Epidemiology, Internal Medicine, Gastroenterology & Hepatology, Medical Imaging and Physical Sciences, Faculty of Medicine and Pharmacy, Faculty of Economic and Social Sciences and Solvay Business School, International Relations and Mobility, Faculty of Arts and Philosophy, Faculty of Psychology and Educational Sciences, Clinical sciences, Medical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human Genetics

المصدر: Journal of Medical Genetics, 42(9). BMJ Publishing Group
Scopus-Elsevier
Journal of Medical Genetics, 42, 9, pp. e54-1-e54
Nielsen, M, Franken, P F, Reinards, T H, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G, Brocker-Vriends, A H & Gomez Garcia, E B 2005, ' Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) ', Journal of Medical Genetics, vol. 42, no. 9 . https://doi.org/10.1136/jmg.2005.033217Test
JOURNAL OF MEDICAL GENETICS, 42(9):54. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 42, e54-1-e54
Journal of medical genetics, 42(9). BMJ Publishing Group

مصطلحات موضوعية: Male, APC GENE, Genetics and epigenetic pathways of disease [NCMLS 6], Colorectal cancer, DNA Mutational Analysis, SOMATIC G-C->T-A MUTATIONS, Inheritance Patterns, Gene mutation, Gastroenterology, ONSET COLORECTAL-CANCER, DNA Glycosylases, FAMILIAL ADENOMATOUS POLYPOSIS, genetics, Genetics(clinical), Child, Genetics (clinical), Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Netherlands, Genetics, biology, MUTYH-Associated Polyposis, Middle Aged, Phenotype, Adenomatous Polyposis Coli, Female, Colorectal Neoplasms, GENE-MUTATIONS, Adult, Risk, medicine.medical_specialty, Adolescent, Genotype, Adenomatous polyposis coli, NEOPLASIA, Electronic Letter, LESION, Familial adenomatous polyposis, Molecular epidemiology [NCEBP 1], Breast cancer, Germline mutation, MUTYH, Translational research [ONCOL 3], Interventional oncology [UMCN 1.5], Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, REPAIR, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, medicine.disease, GERM-LINE MUTATIONS, biology.protein, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5789231c134443645b429a342f79f9Test
https://research.vumc.nl/en/publications/a01c0647-c7bb-40a2-ac7c-516a5043704bTest