يعرض 1 - 10 نتائج من 35 نتيجة بحث عن '"Mark Drost"', وقت الاستعلام: 1.03s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

    المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops

    المصدر: Frontiers in Genetics, Vol 11 (2020)

    مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/fullTest; https://doaj.org/toc/1664-8021Test

    الوصول الحر: https://doaj.org/article/9cc3036b8517473a900b9588e8069c13Test

    View record in DOAJ النص الكامل

    أضف إلى المفضلة
  2. 2
    Predictive functional assay-based classification of PMS2 variants in Lynch syndrome

    المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind

    المساهمون: Clinical Genetics

    المصدر: Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
    Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.

    مصطلحات موضوعية: variants of uncertain significance, DNA mismatch repair, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA-Binding Proteins, MutS Homolog 2 Protein, Lynch syndrome, PMS2, SDG 3 - Good Health and Well-being, Genetics, Humans, Genetic Testing, MutL Protein Homolog 1, diagnostic assessment, functional analysis-based classification, Genetics (clinical), Mismatch Repair Endonuclease PMS2

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ec2056b4957075ebe626b0d9fa110dTest
    http://www.scopus.com/inward/record.url?scp=85128910091&partnerID=8YFLogxKTest


    أضف إلى المفضلة
  3. 3
    Figure S1 from Adjuvant Treatment for POLE Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues

    المؤلفون: Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044b4b8295f206f03b8a3dc975cc00e9Test
    https://doi.org/10.1158/1078-0432.22470657Test


    أضف إلى المفضلة
  4. 4
    Table S6 from Adjuvant Treatment for POLE Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues

    المؤلفون: Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad10449ec5f10e40ad7485228070f3dfTest
    https://doi.org/10.1158/1078-0432.22470630.v1Test


    أضف إلى المفضلة
  5. 5
    Supplementary Methods from Adjuvant Treatment for POLE Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues

    المؤلفون: Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2637e9a03f1e89994544481db9b9c9d9Test
    https://doi.org/10.1158/1078-0432.22470648Test


    أضف إلى المفضلة
  6. 6
    Data from Adjuvant Treatment for POLE Proofreading Domain–Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues

    المؤلفون: Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c0e21cd4a7fb2290586a887ec0348eTest
    https://doi.org/10.1158/1078-0432.c.6527640Test


    أضف إلى المفضلة
  7. 7
    Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome

    المؤلفون: Robbert Ijsselsteijn, Sandrine van Hees, Mark Drost, Jacob G Jansen, Niels de Wind

    المصدر: Carcinogenesis: Integrative Cancer Research, 43(2), 160-169. OXFORD UNIV PRESS

    مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Brain Neoplasms, General Medicine, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, digestive system diseases, Diet, DNA-Binding Proteins, Mice, MutS Homolog 2 Protein, Neoplastic Syndromes, Hereditary, Animals, Colorectal Neoplasms, MutL Protein Homolog 1, Germ-Line Mutation, DNA Damage, Mismatch Repair Endonuclease PMS2, Mutagens

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7717dd0a7dbfdf4e5da4e039b64ac3Test
    https://hdl.handle.net/1887/3564229Test


    أضف إلى المفضلة
  8. 8
    Functional assay-based classification of PMS2 variants in Lynch Syndrome

    المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda Spurdle, Niels de Wind

    مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, digestive system diseases

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::72a9f5958ef5ba812299a7b8744f09e6Test
    https://doi.org/10.22541/au.163772741.15317643/v1Test


    أضف إلى المفضلة
  9. 9
    A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

    المؤلفون: Dylan M. Glubb, Niels de Wind, Helga Westers, Christi J. van Asperen, Marc S. Greenblatt, Susan S. Wallace, Lisa Pappas, Scott D. Kathe, Sean V. Tavtigian, Rolf H. Sijmons, David E. Goldgar, Jane H. Frederiksen, Kenneth M. Boucher, Guido Keijzers, Bryony A. Thompson, Yvonne Tiersma, Mark Drost, Jan Osinga, José B. M. Zonneveld, Siska Molenkamp, Amanda B. Spurdle, Lene Juel Rasmussen

    المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS)

    المصدر: Genetics in Medicine
    Genetics in Medicine, 21(7), 1486-1496. Nature Publishing Group
    Genet Med
    Genetics in Medicine, 21(7), 1486-1496. NATURE PUBLISHING GROUP

    مصطلحات موضوعية: 0301 basic medicine, variants of uncertain significance, Concordance, In silico, Computational biology, In Vitro Techniques, SUSCEPTIBILITY, Biology, MLH1, DNA Mismatch Repair, Sensitivity and Specificity, Article, CLASSIFICATION, Mice, 03 medical and health sciences, Bayes' theorem, 0302 clinical medicine, CELL-FREE ASSAY, SEQUENCE VARIANTS, medicine, Animals, Humans, Computer Simulation, variant classification, assay calibration, Gene, Genetics (clinical), MISSENSE SUBSTITUTIONS, MUTATIONS, UNKNOWN CLINICAL-SIGNIFICANCE, Reproducibility of Results, Bayes Theorem, 3T3 Cells, BRCA1, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, MutS Homolog 2 Protein, 030104 developmental biology, Genetic Techniques, 030220 oncology & carcinogenesis, Calibration, DNA mismatch repair, MutL Protein Homolog 1, PATHOGENICITY, functional assay

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082cc0768af270ad64b66a6c9f68250dTest
    https://doi.org/10.1038/s41436-018-0372-2Test


    أضف إلى المفضلة
  10. 10
    Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer

    المؤلفون: Liselotte P. van Hest, Stephanie A. Schubert, Mark Drost, Dina Ruano, Maartje Nielsen, Noel F C C de Miranda, Tom van Wezel, Hans Morreau, Yvonne Tiersma, Niels de Wind

    المساهمون: Clinical genetics, CCA - Cancer biology and immunology

    المصدر: Genes, Chromosomes and Cancer, 59(12), 697-701
    Schubert, S A, Ruano, D, Tiersma, Y, Drost, M, de Wind, N, Nielsen, M, van Hest, L P, Morreau, H, de Miranda, N F C C & van Wezel, T 2020, ' Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer ', Genes, Chromosomes and Cancer, vol. 59, no. 12, pp. 697-701 . https://doi.org/10.1002/gcc.22883Test
    Genes, Chromosomes and Cancer, 59(12), 697-701. WILEY
    Genes, Chromosomes & Cancer

    مصطلحات موضوعية: MUTYH, Cancer Research, Cosegregation, Colorectal cancer, Disease, familial colorectal cancer, Biology, digenic inheritance, Germline, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, whole-exome sequencing, neoplasms, Cancer predisposition, Brief Report, MSH6, medicine.disease, Digenic inheritance, digestive system diseases, Lynch syndrome, 030220 oncology & carcinogenesis, Brief Reports, whole‐exome sequencing

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1512c1eb96099f97eb82dee5cad9e2Test
    https://research.vumc.nl/en/publications/b7f437a6-18fc-46fc-ad95-203d594df9e6Test


    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث