المؤلفون: Xu-Monette, Zijun Y, Luo, Cancan, Yu, Li, Li, Yong, Bhagat, Govind, Tzankov, Alexandar, Visco, Carlo, Fan, Xiangshan, Dybkaer, Karen, Sakhdari, Ali, Wang, Nicholas T., Yuan, Alyssa F., Chiu, April, Tam, Wayne, Zu, Youli, Hsi, Eric D., Perry, Anamarija M., Song, Wenting, O'Malley, Dennis, Au, Qingyan, Nunns, Harry, Go, Heounjeong, Møller, Michael B., Parsons, Benjamin M., Montes-Moreno, Santiago, Ponzoni, Maurilio, Ferreri, Andrés J. M., Sohani, Aliyah R., Abramson, Jeremy S., Xu, Bing, Young, Ken H.

المصدر: Xu-Monette , Z Y , Luo , C , Yu , L , Li , Y , Bhagat , G , Tzankov , A , Visco , C , Fan , X , Dybkaer , K , Sakhdari , A , Wang , N T , Yuan , A F , Chiu , A , Tam , W , Zu , Y , Hsi , E D , Perry , A M , Song , W , O'Malley , D , Au , Q , Nunns , H , Go , H , Møller , M B , Parsons ....

مصطلحات موضوعية: Adult, Aged, Biomarkers, Tumor/genetics, DNA Mismatch Repair/genetics, DNA-Binding Proteins/genetics, Female, Humans, Lymphoma, Large B-Cell, Diffuse/genetics, Male, Middle Aged, Mismatch Repair Endonuclease PMS2/genetics, Mutation, Prognosis, Tumor Microenvironment/immunology, DLBCL, p53, MYC, DNA mismatch repair, dMMR, immune, heterogeneity, MSH6, multiplex IHC, tumor microenvironment, gene expression profiling, genomic instability, PD-1

وصف الملف: application/pdf

الاتاحة: https://vbn.aau.dk/da/publications/2eaeb16a-3b5a-41ab-b7c0-280016d38083
https://doi.org/10.1080/2162402X.2024.2384667
https://vbn.aau.dk/ws/files/737285892/Xu-Monette_et_al_2024_DNA_mismatch_repair_defect_and_intratumor_heterogeneous_deficiency_differently_impact_immune_responses_in_diffuse_large_B-cell_lymphoma.pdf
http://www.scopus.com/inward/record.url?scp=85200607763&partnerID=8YFLogxK

المؤلفون: Palmer, Nathan, Talib, S Zakiah A, Goh, Christine M F, Biswas, Kajal, Sharan, Shyam K, Kaldis, Philipp

المصدر: PLoS ONE EXODIAB: Excellence of Diabetes Research in Sweden. 18(3)

مصطلحات موضوعية: Male, Mice, Animals, Phosphorylation, Mismatch Repair Endonuclease PMS2/genetics, Meiosis, Cell Cycle Checkpoints, Cyclin-Dependent Kinase 2/genetics, Prophase, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology, Naturvetenskap, Biologi, Cellbiologi, Natural Sciences, Biological Sciences, Cell Biology

URL الوصول: https://lup.lub.lu.se/record/2991ea55-570c-4229-bbb4-5392d8d2830e
http://dx.doi.org/10.1371/journal.pone.0283590

المؤلفون: Andesdottir, Arna Kristin, Einarsson, Haukur, Jonsdottir, Hildur, Jónasson, Jón Gunnlaugur, Björnsson, Einar Stefán, Haraldsdóttir, Sigurdís

المساهمون: Faculty of Medicine, Other departments

مصطلحات موضوعية: Meltingarlæknisfræði, Meinafræði, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Colorectal Neoplasms/genetics, DNA Mismatch Repair, Germ-Line Mutation, Humans, Iceland/epidemiology, Mismatch Repair Endonuclease PMS2/genetics, MutL Protein Homolog 1/genetics, MutS Homolog 2 Protein/genetics, Gastroenterology, Hepatology

وصف الملف: 1314-1316.e1

Relation: Gastroenterology; 164(7); http://www.scopus.com/inward/record.url?scp=85153928925&partnerID=8YFLogxK; Andesdottir , A K , Einarsson , H , Jonsdottir , H , Jónasson , J G , Björnsson , E S & Haraldsdóttir , S 2023 , ' Metachronous Colorectal Cancer in Icelandic MSH6 and PMS2 Lynch Syndrome Carriers in 1955-2017 : A Population-based Study ' , Gastroenterology , vol. 164 , no. 7 , pp. 1314-1316.e1 . https://doi.org/10.1053/j.gastro.2023.02.007; 123563317; 42e7775c-6f54-4445-b9c2-b4cafd4f9b7e; 85153928925; unpaywall: 10.1053/j.gastro.2023.02.007; https://hdl.handle.net/20.500.11815/4170

الاتاحة: https://hdl.handle.net/20.500.11815/4170
https://doi.org/10.1053/j.gastro.2023.02.007

المؤلفون: Gallon, Richard, Phelps, Rachel, Betts, Leigh, Hayes, Christine, Masic, Dino, Irving, Julie A E, McAnulty, Ciaron, Saha, Vaskar, Vora, Ajay, Wimmer, Katharina, Motwani, Jayashree, Macartney, Christine, Burn, John, Jackson, Michael S, Moorman, Anthony V, Santibanez-Koref, Mauro

المصدر: Gallon , R , Phelps , R , Betts , L , Hayes , C , Masic , D , Irving , J A E , McAnulty , C , Saha , V , Vora , A , Wimmer , K , Motwani , J , Macartney , C , Burn , J , Jackson , M S , Moorman , A V & Santibanez-Koref , M 2023 , ' Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia ' , Leukemia & lymphoma , vol. 64 , no. 1 , pp. 217-220 . ....

مصطلحات موضوعية: Humans, Child, Adolescent, Colorectal Neoplasms, Brain Neoplasms, Neoplastic Syndromes, Hereditary/diagnosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis, DNA Mismatch Repair, Mismatch Repair Endonuclease PMS2/genetics

Relation: https://research.manchester.ac.uk/en/publications/61e93aa3-c6bb-4ba8-ad25-50bb094cd94c

الاتاحة: https://research.manchester.ac.uk/en/publications/61e93aa3-c6bb-4ba8-ad25-50bb094cd94c
https://doi.org/10.1080/10428194.2022.2131412

المؤلفون: Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A J, Evans, D Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A, Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoit, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J, Kratz, Christian P, Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M, Wimmer, Katharina, Burn, John, Jackson, Michael S, Santibanez-Koref, Mauro

المصدر: Gastroenterology, 164 (4), 579 - 592.e8 (2023)

مصطلحات موضوعية: Constitutional Mutation Burden, Functional Test, Pediatric Cancer, Replication Error Repair, Mismatch Repair Endonuclease PMS2, Humans, Microsatellite Instability, Genotype, DNA Mismatch Repair/genetics, Mismatch Repair Endonuclease PMS2/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Neoplastic Syndromes, Hereditary/diagnosis, Hereditary/genetics, Colorectal Neoplasms/genetics, Colorectal Neoplasms/diagnosis, Brain Neoplasms/diagnosis, Brain Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Hereditary, Hepatology, Gastroenterology, Life sciences, Genetics & genetic processes, Human health sciences, Pediatrics, Oncology, Sciences du vivant

Relation: https://api.elsevier.com/content/article/PII:S0016508522014445?httpAccept=text/xml; urn:issn:0016-5085; urn:issn:1528-0012; https://orbi.uliege.be/handle/2268/314387; info:hdl:2268/314387; info:pmid:36586540

الاتاحة: https://orbi.uliege.be/handle/2268/314387
https://doi.org/10.1053/j.gastro.2022.12.017

المؤلفون: Maartje Nielsen, Marjolijn J. L. Ligtenberg, Yvonne Tiersma, Juul T. Wijnen, Maran J. W. Olderode-Berends, Encarna Gomez Garcia, B. Redeker, José B. M. Zonneveld, Sanne W. ten Broeke, Frederik J. Hes, Carli M. J. Tops, Peter Devilee, Theo A. M. van Os, Christi J. van Asperen, Hans J. J. P. Gille, Niels de Wind, Heleen M. van der Klift, Arjen R. Mensenkamp, Tom G.W. Letteboer, Yvonne J. Vos, Elsa C. Bik, Mark Drost, S. Verhoef, Liselotte P. van Hest, Anja Wagner

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.23052

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991
https://doi.org/10.1002/humu.23052

المؤلفون: ten Broeke, Sanne W., van Bavel, Tom C., Jansen, Anne M.L., Gómez-García, Encarnca, Hes, Frederik J., van Hest, Liselot P., Letteboer, Tom G.W., Olderode-Berends, Maran J.W., Ruano, Dina, Spruijt, Liesbeth, Suerink, Manon, Tops, Carli M., van Eijk, Ronald, Morreau, Hans, van Wezel, Tom, Nielsen, Maartje

المساهمون: Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: Colon Cancer, Genetics, Mismatch Repair, Wnt Signaling, Epithelial Cell Adhesion Molecule/genetics, Humans, Middle Aged, Colorectal Neoplasms/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Male, Mismatch Repair Endonuclease PMS2/genetics, DNA-Binding Proteins/genetics, DNA Mismatch Repair, Germ-Line Mutation, Adult, Female, Aged, MutL Protein Homolog 1/genetics, beta Catenin/genetics, Gastroenterology, Hepatology, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/372144

الاتاحة: https://dspace.library.uu.nl/handle/1874/372144

المؤلفون: Ramchander, N C, Ryan, N A J, Crosbie, E J, Evans, D G

المصدر: Ramchander , N C , Ryan , N A J , Crosbie , E J & Evans , D G 2017 , ' Homozygous germ-line mutation of the PMS2 mismatch repair gene : a unique case report of constitutional mismatch repair deficiency (CMMRD) ' , BMC Medical Genetics , vol. 18 , no. 1 , pp. 40 . https://doi.org/10.1186/s12881-017-0391-x

مصطلحات موضوعية: Adult, Base Sequence, Brain Neoplasms/diagnosis, Colorectal Neoplasms/diagnosis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, DNA/chemistry, DNA Mutational Analysis, Exons, Female, Gene Deletion, Germ-Line Mutation, Homozygote, Humans, Mismatch Repair Endonuclease PMS2/genetics, Neoplastic Syndromes, Hereditary/diagnosis, Pedigree

الاتاحة: https://hdl.handle.net/1983/4de54d29-666f-494e-a740-62e6eea24cb8
https://research-information.bris.ac.uk/en/publications/4de54d29-666f-494e-a740-62e6eea24cb8
https://doi.org/10.1186/s12881-017-0391-x

المؤلفون: Olaf M. Dekkers, B. Redeker, Liesbeth Spruijt, Fred H. Menko, Gabriel Capellá Munar, Annika Lindblom, Sanne W. ten Broeke, Pål Møller, Frederik J. Hes, Arjen Mensenkamp, Carli M. J. Tops, Manon Suerink, Juul T. Wijnen, Yvonne J. Vos, Nils Rahner, Anja Wagner, Inge Bernstein, Hans F. A. Vasen, Maran Olderode, Tom G.W. Letteboer, Theo A. M. van Os, Hans Morreau, Encarna B. Gomez Garcia, Heleen M. van der Klift, Nicoline Hoogerbrugge, Maartje Nielsen

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

المصدر: Genetics in medicine, 18(4), 405-409. Lippincott Williams and Wilkins
Genetics in Medicine, 18, 405-9
Genetics in Medicine, 18(4), 405-409. Nature Publishing Group
Genetics in Medicine, 18(4), 405-9. Lippincott Williams and Wilkins
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A R, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode-Berends, M J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-9 . https://doi.org/10.1038/gim.2015.83
Genetics in Medicine, 18(4), 405-409. Lippincott Williams & Wilkins
Genetics in Medicine, 18(4), 405–409. Lippincott Williams and Wilkins
Genetics in Medicine, 18, 4, pp. 405-9
Genetics in Medicine, 18(4), 405-409
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-409 . https://doi.org/10.1038/gim.2015.83

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, genotype-phenotype correlations, Colorectal cancer, Gene Expression, VARIANTS, Bioinformatics, PHENOTYPE, FAMILIES, MISMATCH REPAIR, 0302 clinical medicine, Neoplasms, Gene expression, Genotype, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, Age of Onset, Non-U.S. Gov't, Genetics (clinical), Mismatch Repair Endonuclease PMS2, risk, Medicine(all), Research Support, Non-U.S. Gov't, NONPOLYPOSIS COLORECTAL-CANCER, Middle Aged, Lynch syndrome, 030220 oncology & carcinogenesis, Cohort studies, Female, parent-of-origin effect, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Heterozygote, Research Support, LYNCH-SYNDROME, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Journal Article, hereditary colon cancer, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Germ-Line Mutation, Aged, business.industry, Endometrial cancer, Mismatch Repair Endonuclease PMS2/genetics, medicine.disease, GENE, digestive system diseases, 030104 developmental biology, Age of onset, mutation, business, aged, 80 and over, Neoplasms/epidemiology

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521489cadcda93ac80529b36e2c39a3d
https://pure.amc.nl/en/publications/the-effect-of-genotypes-and-parent-of-origin-on-cancer-risk-and-age-of-cancer-development-in-pms2-mutation-carriers(1390b549-1f43-475c-b72d-b0f52c6b3cec).html