المؤلفون: Aaltonen, L.A., Abeshouse, A., Brinkman, A.B., Span, P.N., Sweep, F.C.G.J.

المصدر: Nature, 614, pp. 1-1

مصطلحات موضوعية: Molecular Biology, Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences, Radboudumc 17: Women's cancers RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/291360/291360.pdfTest; https://repository.ubn.ru.nl/handle/2066/291360Test

الإتاحة: https://doi.org/10.1038/s41586-022-05598-wTest
https://repository.ubn.ru.nl//bitstream/handle/2066/291360/291360.pdfTest
https://repository.ubn.ru.nl/handle/2066/291360Test

المؤلفون: Kondelin, J., Salokas, K., Saarinen, L., Ovaska, K., Rauanheimo, H., Plaketti, R.-M., Hamberg, J., Liu, X., Yadav, L., Gylfe, A.E., Cajuso, T., Hänninen, U.A., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Tanskanen, T., Aavikko, M., Taipale, M., Taipale, J., Renkonen-Sinisalo, L., Lepistö, A., Koskensalo, S., Böhm, J., Mecklin, J.-P., Ongen, H., Dermitzakis, E.T., Kilpivaara, O., Vahteristo, P., Turunen, M., Hautaniemi, S., Tuupanen, S., Karhu, A., Välimäki, N., Varjosalo, M., Pitkänen, E., Aaltonen, L.A.

المساهمون: Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Institute of Biotechnology, Department of Surgery, Department of Biochemistry and Developmental Biology, Sampsa Hautaniemi / Principal Investigator, Molecular Systems Biology, HUS Abdominal Center

مصطلحات موضوعية: Article, cancer cell, clinical evaluation, colony formation, colorectal cancer, controlled study, gene expression, gene frequency, gene interaction, gene replication, genetic analysis, genetic code, genetic identification, human, human cell, human tissue, microsatellite instability, mutator gene, point mutation, priority journal, R105W gene, single nucleotide polymorphism, SMARCB1 gene, STK38L gene, tumor-related gene, validation process, whole exome sequencing, wild type, 3111 Biomedicine, 1184 Genetics

وصف الملف: application/pdf

العلاقة: Kondelin , J , Salokas , K , Saarinen , L , Ovaska , K , Rauanheimo , H , Plaketti , R-M , Hamberg , J , Liu , X , Yadav , L , Gylfe , A E , Cajuso , T , Hänninen , U A , Palin , K , Ristolainen , H , Katainen , R , Kaasinen , E , Tanskanen , T , Aavikko , M , Taipale , M , Taipale , J , Renkonen-Sinisalo , L , Lepistö , A , Koskensalo , S , Böhm , J , Mecklin , J-P , Ongen , H , Dermitzakis , E T , Kilpivaara , O , Vahteristo , P , Turunen , M , Hautaniemi , S , Tuupanen , S , Karhu , A , Välimäki , N , Varjosalo , M , Pitkänen , E & Aaltonen , L A 2018 , ' Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer ' , EMBO molecular medicine , vol. 10 , no. 9 , e8552 . https://doi.org/10.15252/emmm.201708552Test; Bibtex: urn:755424a7df9154123304997b1b53abb2; ORCID: /0000-0002-7749-2694/work/54789513; ORCID: /0000-0002-5866-4059/work/54790516; ORCID: /0000-0002-1340-9732/work/54790587; ORCID: /0000-0002-1333-8049/work/91815966; ORCID: /0000-0001-6839-4286/work/101502652; ORCID: /0000-0002-4471-6698/work/124844097; ORCID: /0000-0002-7927-0796/work/155091526; ORCID: /0000-0001-8467-2100/work/156157835; http://hdl.handle.net/10138/299729Test; b07f612a-02b4-450f-9f1c-e7b0fef4f987; 85053009811

الإتاحة: http://hdl.handle.net/10138/299729Test

المؤلفون: Waszak, S.M., Tiao, G., Zhu, B., Rausch, T., Muyas, F., Rodriguez-Martin, B., Rabionet, R., Yakneen, S., Escaramis, G., Li, Y., Saini, N., Roberts, S.A., Demidov, G.M., Pitkanen, E., Delaneau, O., Heredia-Genestar, J.M., Weischenfeldt, J., Shringarpure, S.S., Chen, J., Nakagawa, H., Alexandrov, L.B., Drechsel, O., Dursi, L.J., Segre, A.V., Garrison, E., Erkek, S., Habermann, N., Urban, L., Khurana, E., Cafferkey, A., Hayashi, S., Imoto, S., Aaltonen, L.A., Alvarez, E.G., Baez-Ortega, A., Bailey, M., Bosio, M., Bruzos, A.L., Buchhalter, I., Bustamante, C.D., Calabrese, C., DiBiase, A., Gerstein, M., Holik, A.Z., Hua, X., Huang, K.l., Letunic, I., Klimczak, L.J., Koster, R., Kumar, S., McLellan, M., Mashl, J., Mirabello, L., Newhouse, S., Prasad, A., Raetsch, G., Schlesner, M., Schwarz, R., Sharma, P., Shmaya, T., Sidiropoulos, N., Song, L., Susak, H., Tanskanen, T., Tojo, M., Wedge, D.C., Wright, M., Wu, Y., Ye, K., Yellapantula, V. D., Zamora, J., Butte, A.J., Getz, G., Simpson, J., Ding, L., Marques-Bonet, T., Navarro, A., Brazma, A., Campbell, P., Chanock, S.J., Chatterjee, N., Stegle, O., Siebert, R., Ossowski, S., Harismendy, O., Gordenin, D.A., Tubio, J.M.C., De La Vega, F.M., Easton, D.F., Estivill, X., Korbel, J.

مصطلحات موضوعية: Cancer Research

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/17576/1/17576oa.pdfTest; Germline determinants of the somatic mutation landscape in 2,642 cancer genomes. Waszak, S.M. and Tiao, G. and Zhu, B. and Rausch, T. and Muyas, F. and Rodriguez-Martin, B. and Rabionet, R. and Yakneen, S. and Escaramis, G. and Li, Y. and Saini, N. and Roberts, S.A. and Demidov, G.M. and Pitkanen, E. and Delaneau, O. and Heredia-Genestar, J.M. and Weischenfeldt, J. and Shringarpure, S.S. and Chen, J. and Nakagawa, H. and Alexandrov, L.B. and Drechsel, O. and Dursi, L.J. and Segre, A.V. and Garrison, E. and Erkek, S. and Habermann, N. and Urban, L. and Khurana, E. and Cafferkey, A. and Hayashi, S. and Imoto, S. and Aaltonen, L.A. and Alvarez, E.G. and Baez-Ortega, A. and Bailey, M. and Bosio, M. and Bruzos, A.L. and Buchhalter, I. and Bustamante, C.D. and Calabrese, C. and DiBiase, A. and Gerstein, M. and Holik, A.Z. and Hua, X. and Huang, K.l. and Letunic, I. and Klimczak, L.J. and Koster, R. and Kumar, S. and McLellan, M. and Mashl, J. and Mirabello, L. and Newhouse, S. and Prasad, A. and Raetsch, G. and Schlesner, M. and Schwarz, R. and Sharma, P. and Shmaya, T. and Sidiropoulos, N. and Song, L. and Susak, H. and Tanskanen, T. and Tojo, M. and Wedge, D.C. and Wright, M. and Wu, Y. and Ye, K. and Yellapantula, V. D. and Zamora, J. and Butte, A.J. and Getz, G. and Simpson, J. and Ding, L. and Marques-Bonet, T. and Navarro, A. and Brazma, A. and Campbell, P. and Chanock, S.J. and Chatterjee, N. and Stegle, O. and Siebert, R. and Ossowski, S. and Harismendy, O. and Gordenin, D.A. and Tubio, J.M.C. and De La Vega, F.M. and Easton, D.F. and Estivill, X. and Korbel, J. bioRxiv : 208330. 1 November 2017

الإتاحة: https://doi.org/10.1101/208330Test
http://edoc.mdc-berlin.de/17576Test/
https://edoc.mdc-berlin.de/17576Test/
http://edoc.mdc-berlin.de/17576/1/17576oa.pdfTest

المؤلفون: Hirvonen, E., Pitkänen, E., Hemminki, K., Aaltonen, L.A., Kilpivaara, O.

المصدر: European Journal of Cancer ; volume 61, page S12 ; ISSN 0959-8049

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1016/s0959-8049Test(16)61031-6
https://api.elsevier.com/content/article/PII:S0959804916610316?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0959804916610316?httpAccept=text/plainTest

المؤلفون: Nummela, P., Saarinen, L., Thiel, A., Lehtonen, R., Järvinen, P., Järvinen, H., Aaltonen, L.A., Lepistö, A., Hautaniemi, S., Ristimäki, A.

المصدر: European Journal of Cancer ; volume 61, page S21 ; ISSN 0959-8049

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1016/s0959-8049Test(16)61061-4
https://api.elsevier.com/content/article/PII:S0959804916610614?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0959804916610614?httpAccept=text/plainTest

المؤلفون: Salovaara, R., Roth, S., Loukola, A., Launonen, V., Sistonen, P., Avizienyte, E., Kristo, P., Järvinen, H., Souchelnytskyi, Serhiy, Sarlomo-Rikala, M., Aaltonen, L.A.

المصدر: Gut. 51(1):56-59

مصطلحات موضوعية: Chromosomes, Human, Pair 18/*genetics, Colorectal Neoplasms/chemistry/*genetics, DNA Mutational Analysis, DNA-Binding Proteins/analysis/*genetics, Gene Deletion, Genetic Markers, Humans, Immunohistochemistry/methods, Loss of Heterozygosity, Microsatellite Repeats, Receptors, Transforming Growth Factor beta/genetics, Smad4 Protein, Trans-Activators/analysis/*genetics

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-10422Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=12077092&dopt=CitationTest

المؤلفون: Kaasinen, E., Rahikkala, E., Koivunen, P., Miettinen, S., Wamelink, M.M.C., Aavikko, M., Palin, K., Myllyharju, J., Moilanen, J.S., Pajunen, L., Karhu, A., Aaltonen, L.A.

المصدر: Kaasinen , E , Rahikkala , E , Koivunen , P , Miettinen , S , Wamelink , M M C , Aavikko , M , Palin , K , Myllyharju , J , Moilanen , J S , Pajunen , L , Karhu , A & Aaltonen , L A 2014 , ' Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome ' , European Journal of Medical Genetics , vol. 57 , no. 10 , pp. 543-551 . https://doi.org/10.1016/j.ejmg.2014.07.002Test

العلاقة: https://research.vumc.nl/en/publications/16e04e1d-185e-429a-978f-535ca0b12fa5Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2014.07.002Test
https://research.vumc.nl/en/publications/16e04e1d-185e-429a-978f-535ca0b12fa5Test

المؤلفون: Spain, S.L., Carvajal-Carmona, L.G., Howarth, K.M., Jones, A.M., Su, Z., Cazier, J.B., Williams, J., Aaltonen, L.A., Pharoah, P., Kerr, D.J., Cheadle, J., Li, L., Casey, G., Vodicka, P., Sieber, O., Lipton, L., Gibbs, P., Martin, N.G., Montgomery, G.W., Young, J., Baird, P.N., Morreau, H., Wezel, T. van, Ruiz-Ponte, C., Fernandez-Rozadilla, C., Carracedo, A., Castells, A., Castellvi-Bel, S., Dunlop, M., Houlston, R.S., Tomlinson, I.P.M.

المصدر: Human Molecular Genetics

العلاقة: lumc-id: 3234916; https://hdl.handle.net/1887/97995Test

الإتاحة: https://doi.org/10.1093/hmg/ddr523Test
https://hdl.handle.net/1887/97995Test

المؤلفون: Rafnar, T., Gudbjartsson, D.F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Besenbacher, S., Lundin, P., Stacey, S.N., Gudmundsson, J., Magnusson, O.T., Roux, L. le, Orlygsdottir, G., Helgadottir, H.T., Johannsdottir, H., Gylfason, A, Tryggvadottir, L., Jonasson, J.G., Juan, A. de, Ortega, E., Ramon-Cajal, J.M., Garcia-Prats, M.D., Mayordomo, C., Panadero, A., Rivera, F., Aben, K.K.H., Altena, A.M. van, Massuger, L.F.A.G., Aavikko, M., Kujala, P.M., Staff, S., Aaltonen, L.A., Olafsdottir, K., Bjornsson, J., Kong, A., Salvarsdottir, A., Saemundsson, H., Olafsson, K., Benediktsdottir, K.R., Gulcher, J., Masson, G., Kiemeney, L.A.L.M., Mayordomo, J.I., Thorsteinsdottir, U., Stefansson, K.

المصدر: Nature Genetics, 43, 11, pp. 1104-7

مصطلحات موضوعية: NCEBP 1: Molecular epidemiology ONCOL 5: Aetiology, screening and detection, ONCOL 1: Hereditary cancer and cancer-related syndromes, ONCOL 3: Translational research, ONCOL 5: Aetiology, screening and detection NCMLS 2: Immune Regulation

العلاقة: http://hdl.handle.net/2066/98125Test

الإتاحة: https://doi.org/10.1038/ng.955Test
http://hdl.handle.net/2066/98125Test

المؤلفون: Knappskog, S., Bjornslett, M., Myklebust, L.M., Huijts, P.E.A., Vreeswijk, M.P., Edvardsen, H., Guo, Y.L., Zhang, X.M., Yang, M., Ylisaukko-oja, S.K., Alhopuro, P., Arola, J., Tollenaar, R.A.E.M., Asperen, C.J. van, Seynaeve, C., Staalesen, V., Chrisanthar, R., Lokkevik, E., Salvesen, H.B., Evans, D.G., Newman, W.G., Lin, D.X., Aaltonen, L.A., Borresen-Dale, A.L., Tell, G.S., Stoltenberg, C., Romundstad, P., Hveem, K., Lillehaug, J.R., Vatten, L., Devilee, P., Dorum, A., Lonning, P.E.

المصدر: Cancer Cell

العلاقة: lumc-id: 4378169; https://hdl.handle.net/1887/108312Test

الإتاحة: https://doi.org/10.1016/j.ccr.2010.12.019Test
https://hdl.handle.net/1887/108312Test