المؤلفون: Sørensen, Simon Grund, Shrikhande, Amruta, Poulsgaard, Gustav Alexander, Christensen, Mikkel Hovden, Bertl, Johanna, Laursen, Britt Elmedal, Hoffmann, Eva R, Pedersen, Jakob Skou

المصدر: Sørensen , S G , Shrikhande , A , Poulsgaard , G A , Christensen , M H , Bertl , J , Laursen , B E , Hoffmann , E R & Pedersen , J S 2023 , ' Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns ' , eLife , vol. 12 , e81224 . https://doi.org/10.7554/elife.81224Test

مصطلحات موضوعية: BRCA1 Protein/genetics, BRCA2 Protein/genetics, DNA Helicases/genetics, DNA Repair-Deficiency Disorders, DNA Repair/genetics, Humans, Male, Mutation, Neoplasms/genetics, Nuclear Proteins/genetics, Transcription Factors/genetics, predictive modelling, DNA damage response, mutational signatures, personalised medicine, repair deficiency

العلاقة: https://pure.au.dk/portal/da/publications/pancancer-association-ofTest-dna-repair-deficiencies-with-wholegenome-mutational-patterns(6d841269-ef5f-41e2-a050-6f671e6994dd).html

الإتاحة: https://doi.org/10.7554/elife.81224Test
https://pure.au.dk/portal/da/publications/pancancer-association-ofTest-dna-repair-deficiencies-with-wholegenome-mutational-patterns(6d841269-ef5f-41e2-a050-6f671e6994dd).html

المؤلفون: Collins, S.C., Vancollie, V.E., Mikhaleva, A., Wagner, C., Balz, R., Lelliott, C.J., Yalcin, B.

المصدر: International journal of molecular sciences, vol. 23, no. 19, pp. 11509

مصطلحات موضوعية: Animals, CHARGE Syndrome/diagnosis, CHARGE Syndrome/genetics, Corpus Callosum/metabolism, DNA Helicases/genetics, DNA Helicases/metabolism, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Insulins/genetics, Mice, Mutation, CHARGE syndrome, CHD7, dysgenesis of the corpus callosum, mouse models, neurodevelopmental disorders

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36232804; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A2E911704AC59; https://serval.unil.ch/notice/serval:BIB_A2E911704AC5Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_A2E911704AC5.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A2E911704AC59Test

الإتاحة: https://doi.org/10.3390/ijms231911509Test
https://serval.unil.ch/notice/serval:BIB_A2E911704AC5Test
https://serval.unil.ch/resource/serval:BIB_A2E911704AC5.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A2E911704AC59Test

المؤلفون: Raposo, Mafalda, Bettencourt, Conceição, Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela, Melo, Ana Rosa Vieira, Ferreira, Ana F, Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D

المصدر: Neurobiology of disease 162, 105578 (2022). doi:10.1016/j.nbd.2021.105578

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Age of Onset, Alleles, DNA Helicases: genetics, Genotype, Humans, Machado-Joseph Disease: genetics, Machado-Joseph Disease: pathology, Nerve Tissue Proteins: genetics, Exome Sequencing, Age at onset, Genetic modifier, MJD, Polyglutamine disease, SCA3, Spinocerebellar ataxia

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:34871736; info:eu-repo/semantics/altIdentifier/issn/1095-953X; info:eu-repo/semantics/altIdentifier/issn/0969-9961; https://pub.dzne.de/record/163416Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00176%22Test

الإتاحة: https://doi.org/10.1016/j.nbd.2021.105578Test
https://pub.dzne.de/record/163416Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-00176%22Test

المؤلفون: Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella, Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M, petit, florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, PHILIPPE, Christophe, van de Laar, Ingrid, van Slegtenhorst, Marjon A., Campeau, Philippe, Au, Ping Yee, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond, Lyons, Michael, Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew, Fuchs, Sabine, Depienne, Christel, Mignot, Cyril

المصدر: http://lobid.org/resources/99370671251406441Test#!, 140(7):1109-1120.

مصطلحات موضوعية: Adolescent [MeSH], Female [MeSH], Catalytic Domain [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Genes, Dominant [MeSH], Molecular Medicine, Neurodevelopmental Disorders/physiopathology [MeSH], Nerve Tissue Proteins/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Cohort Studies [MeSH], DNA Helicases/genetics [MeSH], Intellectual Disability/physiopathology [MeSH], Original Investigation, Pedigree [MeSH], Male [MeSH], Metabolic Diseases, Young Adult [MeSH], Gene Function, Child [MeSH], Epilepsy/genetics [MeSH], Child, Preschool [MeSH], Human Genetics

العلاقة: https://repository.publisso.de/resource/frl:6446838Test; https://doi.org/10.1007/s00439-021-02283-2Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197709Test/

الإتاحة: https://doi.org/10.1007/s00439-021-02283-2Test
https://repository.publisso.de/resource/frl:6446838Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197709Test/

المؤلفون: Frühwald, Michael, Nemes, K., Boztug, H., Cornips, M. C. A., Evans, Gareth, farah, roula, Glentis, Stavros, Jorgensen, M., Katsibardi, Katerina, Hirsch, Steffen, Jahnukainen, K., kventsel, iris, Kerl, Kornelius, Kratz, Christian, Pajtler, Kristian W., Kordes, Uwe R., Ridola, Vita, Stutz, E., BOURDEAUT, Franck

المصدر: http://lobid.org/resources/99370679682206441Test#!, 20(4):305-316.

مصطلحات موضوعية: Female [MeSH], Germline, Brain Neoplasms/genetics [MeSH], Rhabdoid, Transcription Factors/genetics [MeSH], Humans [MeSH], Rhabdoid Tumor/genetics [MeSH], Surveillance, Rhabdoid Tumor/diagnosis [MeSH], Original Article, Genetic Testing [MeSH], DNA Helicases/genetics [MeSH], Kidney Neoplasms/genetics [MeSH], SMARCB1 Protein/genetics [MeSH], ATRT, Nuclear Proteins [MeSH], SMARCB1, Central Nervous System Neoplasms [MeSH], Predisposition, Child, Preschool [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6446067Test; https://doi.org/10.1007/s10689-021-00229-1Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484234Test/

الإتاحة: https://doi.org/10.1007/s10689-021-00229-1Test
https://repository.publisso.de/resource/frl:6446067Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484234Test/

المؤلفون: Holdhof, Dörthe, On, Ji Hoon, Schoof, Melanie, Göbel, Carolin, Schüller, Ulrich

المصدر: http://lobid.org/resources/99370676159206441Test#!, 20(3):410-419.

مصطلحات موضوعية: Female [MeSH], Cell Proliferation [MeSH], Cell Movement/genetics [MeSH], MYCN, Brain Neoplasms/genetics [MeSH], Neural Stem Cells/metabolism [MeSH], Medulloblastoma, N-Myc Proto-Oncogene Protein/genetics [MeSH], Transcription Factors/genetics [MeSH], BRG1, Animals [MeSH], Cerebellum/cytology [MeSH], Mouse, Mice, Knockout [MeSH], Immunohistochemistry [MeSH], Original Article, Nuclear Proteins/genetics [MeSH], DNA Helicases/genetics [MeSH], Mice [MeSH], Basic Helix-Loop-Helix Transcription Factors/genetics [MeSH], Male [MeSH], Cytoplasmic Granules/metabolism [MeSH], Migration deficit

العلاقة: https://repository.publisso.de/resource/frl:6444240Test; https://doi.org/10.1007/s12311-020-01219-2Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213679Test/

الإتاحة: https://doi.org/10.1007/s12311-020-01219-2Test
https://repository.publisso.de/resource/frl:6444240Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213679Test/

المؤلفون: Nathansen, Jacqueline, Lukiyanchuk, Vasyl, Hein, Linda, Stolte, Maya-Isabel, Borgmann, Kerstin, Löck, Steffen, Kurth, Ina, Baumann, Michael, Krause, Mechthild, Linge, Annett, Dubrovska, Anna

المصدر: http://lobid.org/resources/99370678536806441Test#!, 40(24):4214-4228.

مصطلحات موضوعية: Aged [MeSH], Octamer Transcription Factor-3/genetics [MeSH], Neoplastic Stem Cells/pathology [MeSH], Squamous Cell Carcinoma of Head and Neck/pathology [MeSH], Prognostic markers, Head and Neck Neoplasms/genetics [MeSH], Trans-Activators/genetics [MeSH], DNA-Binding Proteins/genetics [MeSH], DNA Helicases/genetics [MeSH], Male [MeSH], Head and neck cancer, DNA Damage/genetics [MeSH], Cancer stem cells, Female [MeSH], Radiation Tolerance/genetics [MeSH], Oncogenes, Adult [MeSH], Humans [MeSH], Homologous Recombination/genetics [MeSH], Middle Aged [MeSH], Squamous Cell Carcinoma of Head and Neck/genetics [MeSH], Nuclear Proteins/genetics [MeSH], Article, Young Adult [MeSH], Gene Expression Regulation, Neoplastic/genetics [MeSH], Head and Neck Neoplasms/pathology [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6443694Test; https://doi.org/10.1038/s41388-021-01842-1Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8211562Test/

الإتاحة: https://doi.org/10.1038/s41388-021-01842-1Test
https://repository.publisso.de/resource/frl:6443694Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8211562Test/

المؤلفون: Oh-Hohenhorst, Su Jung, Tilki, Derya, Ahlers, Ann-Kristin, Suling, Anna, Hahn, Oliver, Tennstedt, Pierre, Matuszcak, Christiane, Maar, Hanna, Labitzky, Vera, Hanika, Sandra, Starzonek, Sarah, Baumgart, Simon, Johnsen, Steven, Kluth, Martina, Sirma, Hüseyin, Simon, Ronald, Sauter, Guido, Huland, Hartwig, Schumacher, Udo, Lange, Tobias

المصدر: http://lobid.org/resources/99370671687106441Test#!, 29(1):49-61.

مصطلحات موضوعية: Neoplasm Grading [MeSH], Humans [MeSH], Metastasis, Prostate-Specific Antigen [MeSH], Membrane Proteins [MeSH], Prostatic Neoplasms/pathology [MeSH], Genes, Tumor Suppressor [MeSH], DNA-Binding Proteins/genetics [MeSH], Prostatic Neoplasms/genetics [MeSH], DNA Helicases/genetics [MeSH], Article, Male [MeSH], Disease-Free Survival [MeSH], Neoplasm Recurrence, Local [MeSH], Prostatectomy [MeSH], Prostatic Neoplasms/surgery [MeSH], Prostate cancer

العلاقة: https://repository.publisso.de/resource/frl:6442860Test; https://doi.org/10.1038/s41417-020-00288-zTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761572Test/

الإتاحة: https://doi.org/10.1038/s41417-020-00288-zTest
https://repository.publisso.de/resource/frl:6442860Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761572Test/

المؤلفون: Summers, Peter A., Lewis, Benjamin W., Gonzalez-Garcia, Jorge, Porreca, Rosa M., Lim, Aaron H.M., Cadinu, Paolo, Martin-Pintado, Nerea, Mann, David J., Edel, Joshua B., Vannier, Jean Baptiste, Kuimova, Marina K., Vilar, Ramon

المساهمون: Hubrecht Institute with UMC

مصطلحات موضوعية: Animals, Cell Line, Tumor, DNA/chemistry, DNA Helicases/genetics, Fanconi Anemia Complementation Group Proteins/genetics, Fibroblasts, Fluorescent Dyes/chemistry, G-Quadruplexes, Gene Knockdown Techniques, Humans, Indoles/chemistry, Intravital Microscopy/methods, Mice, Microscopy, Fluorescence/methods, Molecular Imaging/methods, RNA Helicases/genetics, General Physics and Astronomy, General Chemistry, General Biochemistry,Genetics and Molecular Biology, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/442932Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/442932Test

المؤلفون: Undiagnosed Diseases Network

المساهمون: Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: Adolescent, Catalytic Domain, Child, Preschool, Cohort Studies, DNA Helicases/genetics, Epilepsy/genetics, Female, Genes, Dominant, Humans, Intellectual Disability/genetics, Male, Mutation, Missense, Nerve Tissue Proteins/genetics, Neurodevelopmental Disorders/genetics, Pedigree, Young Adult, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/442840Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/442840Test