نتائج البحث - "Yvonne Tiersma"

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

5

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

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

6

Data_Sheet_1_Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.xlsx

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

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_xlsx/12722282Test

الإتاحة: https://doi.org/10.3389/fgene.2020.00798.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_xlsx/12722282Test

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7

صورة

Image_1_Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.pdf

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

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing

العلاقة: https://figshare.com/articles/figure/Image_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_pdf/12722285Test

الإتاحة: https://doi.org/10.3389/fgene.2020.00798.s002Test
https://figshare.com/articles/figure/Image_1_Contribution_of_mRNA_Splicing_to_Mismatch_Repair_Gene_Sequence_Variant_Interpretation_pdf/12722285Test

View record in BASE

8

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

المساهمون: Human Genetics, Human genetics, CCA - Cancer biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Medical Genetics, Clinical Genetics

المصدر: Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052Test

مصطلحات موضوعية: 0301 basic medicine, DNA Mutational Analysis, pseudogenes, COLORECTAL-CANCER, Cohort Studies, 0302 clinical medicine, Mutation Carrier, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, Missense mutation, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Netherlands, Medicine(all), Genetics, Brain Neoplasms, MLH1, Neoplastic Syndromes, Hereditary/genetics, Lynch syndrome, CMMRD, missense variants, immunohistochemistry, mismatch repair, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), DNA mismatch repair, Microsatellite Instability, Colorectal Neoplasms, EUROPEAN CONSORTIUM CARE, PSEUDOGENE INTERFERENCE, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis/methods, Biology, 03 medical and health sciences, Germline mutation, Neoplastic Syndromes, Hereditary, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, SYNDROME FAMILIES, CFR PARTICIPANTS, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Brain Neoplasms/genetics, Microsatellite instability, Genetic Variation, Mismatch Repair Endonuclease PMS2/genetics, medicine.disease, Colorectal Neoplasms/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis, GENE, digestive system diseases, 030104 developmental biology, PROMOTER HYPERMETHYLATION, 3' DELETIONS, Cancer research, NONPOLYPOSIS COLON-CANCER

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991Test
https://doi.org/10.1002/humu.23052Test

9

Increased numbers of CD5+ B lymphocytes with a regulatory phenotype in spondylarthritis

المؤلفون: Jaqueline E. Paramarta, Chris M. van der Loos, Dominique Baeten, Gabriela FrancoSalinas, Paul L. Klarenbeek, Paul P. Tak, Yvonne Tiersma, Niek de Vries, Tineke Cantaert, Marieke E. Doorenspleet

المساهمون: Other departments, Graduate School, Clinical Immunology and Rheumatology, Pathology, Amsterdam institute for Infection and Immunity

المصدر: Arthritis and rheumatism, 64(6), 1859-1868. John Wiley and Sons Inc.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd6949559b03434e6fc74da69f06275Test
https://doi.org/10.1002/art.34364Test

10

Elevated levels of CD5+ B cells in spondyloarthritis patients

المؤلفون: Dominique Baeten, J.E. Paramarta, Paul P. Tak, Yvonne Tiersma, Leen De Rycke, Tineke Cantaert, Carmen A. Ambarus

المصدر: Annals of the Rheumatic Diseases. 69:A13-A14

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0c7b489628c4d2a756e74549749270Test
https://doi.org/10.1136/ard.2010.129585gTest

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