المؤلفون: Trivedi, Prasad, Steele, Christopher D, Au, Franco KC, Alexandrov, Ludmil B, Cleveland, Don W

المصدر: Nature. 618(7967)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Underpinning research, 1.1 Normal biological development and functioning, Cancer, Generic health relevance, Humans, Cell Nucleus, Chromosome Segregation, Chromosomes, Human, Chromothripsis, Mitosis, Neoplasms, Chromatin, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4ch9n51hTest

المؤلفون: Zegeng Chen, He Huang, Huangming Hong, Huageng Huang, Huawei Weng, Le Yu, Jian Xiao, Zhao Wang, Xiaojie Fang, Yuyi Yao, Jia-Xing Yue, Tongyu Lin

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Natural killer/T cell lymphoma, Genomic alteration, Genome instability, Chromothripsis, Molecular subtypes, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/dfa09827874a477bb573591862668f38Test

المؤلفون: Keela R. Scott, Melissa A. Gener, Elena A. Repnikova

المصدر: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Spinal ependymoma, Ependymoma, Pediatrics, Chromothripsis, Neurofibromatosis type 2, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1752-1947Test

الوصول الحر: https://doaj.org/article/3966525dd0c94896b1ad58a8797248ecTest

المؤلفون: Guo, Weier, Comai, Luca, Henry, Isabelle M

المصدر: G3: Genes, Genomes, Genetics. 13(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Biotechnology, Human Genome, Arabidopsis, Arabidopsis Proteins, DNA, Meiosis, DNA-Binding Proteins, chromothripsis, cancer, plant, meiosis, asy1, micronucleus, plant genetics and genomics, Biochemistry and cell biology, Statistics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/52j0n2wpTest

المؤلفون: Nishanth S. Sadagopan, Khizar R. Nandoliya, Mark W. Youngblood, Craig M. Horbinski, Jared T. Ahrendsen, Stephen T. Magill

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: BRAF, PTPRN2, Gene Fusion, Meningioma, Chromothripsis, Chromosome 7q, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/5f2e664e075d46fe959642d1ac07c3a2Test

المؤلفون: Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman, Ninette Cohen

المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Chromothripsis, Lipoblastoma (LPB), FISH, Microarray, Chromosomes, PLAG1, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/ba1c362ad8614b8fbb3d02161eb57edbTest

المؤلفون: Heidi Maria Namløs, Ksenia Khelik, Sigve Nakken, Daniel Vodák, Eivind Hovig, Ola Myklebost, Kjetil Boye, Leonardo A. Meza‐Zepeda

المصدر: Molecular Oncology, Vol 17, Iss 11, Pp 2432-2450 (2023)

مصطلحات موضوعية: chromothripsis, CIN, GIST, LOH, miR‐34a, risk classification, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1574-7891Test; https://doaj.org/toc/1878-0261Test

الوصول الحر: https://doaj.org/article/5b331ae78b3f4046b28c1408e7ea9d6dTest

المؤلفون: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: long-read sequencing, NIPBL, Cornelia de Lange syndrome, translocation, complex chromosomal rearrangement, chromothripsis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1358334/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/daaa1bda643547108cc85310b1498121Test

المؤلفون: Leeann M. Bui, Laura G. Cooney, Aleksandar K. Stanic

المصدر: Women, Vol 3, Iss 3, Pp 421-431 (2023)

مصطلحات موضوعية: case report, AMH, inversion 9, chromothripsis, infertility, Medicine, Psychology, BF1-990

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2673-4184/3/3/32Test; https://doaj.org/toc/2673-4184Test

الوصول الحر: https://doaj.org/article/d720649ac98247b2bc2f916b321153ccTest

المؤلفون: Wigdor, Emilie M., Weiner, Daniel J., Grove, Jakob, Fu, Jack M., Thompson, Wesley K., Carey, Caitlin E., Baya, Nikolas, van der Merwe, Celia, Walters, Raymond K., Satterstrom, F. Kyle, Palmer, Duncan S., Rosengren, Anders, Bybjerg-Grauholm, Jonas, iPSYCH Consortium, Hougaard, David M., Mortensen, Preben Bo, Daly, Mark, Talkowski, Michael E., Sanders, Stephan J., Bishop, Somer L., Børglum, Anders D., Robinson, Elise B.

المساهمون: Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics

مصطلحات موضوعية: Structural variation, Somatic mutations, Gene fusions, Cancer, Genome, Chromothripsis, Complexity, Discovery, Variants, Germline, 1184 Genetics, developmental biology, physiology, 112 Statistics and probability

وصف الملف: application/pdf

العلاقة: This work was supported by the Autism Science Foundation and Hilibrand Family Foundation (ASP 001 to S.J.S., ASP 002 to S.L.B., and ASP 003 to E.B.R.), the NIMH (RMH111813A to E.B.R., U01MH111662 to S.J.S., and F30MH129009 to D.J.W.), and the NLM (T15LM007092 to D.J.W.). The iP-SYCH team was supported by grants from the Lundbeck Foundation (R102 -A9118, R155-2014-1724, and R248-2017-2003), the EU H2020 Program (grant no. 667302; "CoCA"to A.D.B.), NIMH (1U01MH109514-01 to A.D.B.), and the Universities and University Hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Center for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). This research has been conducted using data from UK Biobank, a major biomedical data-base, under project 31063. This study was reviewed and approved by Partners Human Research of Partners HealthCare. The study name is Molecular Study of Cognitive and Behavioral Variation (IRB: 2015P002376), and the Principal Investigator is Elise Robinson. The authors would like to deeply thank all participants in the cohorts included in this analysis and Luke O'Connor for helpful comments.; Wigdor , E M , Weiner , D J , Grove , J , Fu , J M , Thompson , W K , Carey , C E , Baya , N , van der Merwe , C , Walters , R K , Satterstrom , F K , Palmer , D S , Rosengren , A , Bybjerg-Grauholm , J , iPSYCH Consortium , Hougaard , D M , Mortensen , P B , Daly , M , Talkowski , M E , Sanders , S J , Bishop , S L , Børglum , A D & Robinson , E B 2022 , ' The female protective effect against autism spectrum disorder ' , Cell genomics , vol. 2 , no. 6 , 100134 . https://doi.org/10.1016/j.xgen.2022.100134Test; 85134249609; 9d8aecd4-e8a5-4533-a43e-36a59912dc23; http://hdl.handle.net/10138/570413Test; 001104575600003

الإتاحة: http://hdl.handle.net/10138/570413Test