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المصدر: Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-Johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J R, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, von Deimling, A, Jones, D T W & Sahm, F 2021, ' Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 ', Acta Neuropathologica, vol. 142, no. 1, pp. 179-189 . https://doi.org/10.1007/s00401-021-02302-6Test
Acta Neuropathologica
Acta Neuropathologica, 142(1), 179-189. Springer Verlag
Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-Johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, von Deimling, A, Jones, D T W & Sahm, F 2021, ' Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 ', Acta Neuropathologica, vol. 142, no. 1, pp. 179-189 . https://doi.org/10.1007/s00401-021-02302-6Test
Acta neuropathologica, vol 142, iss 1
Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, Von Deimling, A, Jones, D T W & Sahm, F 2021, ' Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 ', Acta Neuropathologica, vol. 142, pp. 179–189 . https://doi.org/10.1007/s00401-021-02302-6Test

مصطلحات موضوعية: Male, Pathology, PNET, Proliferation index, Neuroectodermal Tumors, Cohort Studies, CDKN2A, Primitive, 2.1 Biological and endogenous factors, Neuroectodermal Tumors, Primitive, Aetiology, Cancer, Chromosome 7 (human), DNA methylation, biology, Brain Neoplasms, Middle Aged, Classification, Retinoblastoma Binding Proteins, Phenotype, Chromosomes, Human, Pair 1, Pair 1, Pair 7, Female, Chromosomes, Human, Pair 7, Human, medicine.medical_specialty, DNA Copy Number Variations, Plasticity, Ubiquitin-Protein Ligases, Clinical Sciences, GBM, Chromosomes, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Rare Diseases, Glial Fibrillary Acidic Protein, medicine, Carcinoma, Genetics, PTEN, Humans, Glioblastoma with Primitive Neuronal Component, Cyclin-Dependent Kinase Inhibitor p16, Original Paper, Neurology & Neurosurgery, Human Genome, Neurosciences, PTEN Phosphohydrolase, medicine.disease, Brain Disorders, Brain Cancer, Primitive neuroectodermal tumor, biology.protein, Neurology (clinical), Tumor Suppressor Protein p53, Glioblastoma, Gene Deletion

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f81b052a44e1aaaf9d4e681768c874dTest
https://research.vumc.nl/en/publications/b19cce4f-5688-4146-bc50-f67a1dcb96daTest

6

Recurrent co‐alteration of HDGF and SETDB1 on chromosome 1q drives cutaneous melanoma progression and poor prognosis

المؤلفون: Jeffrey K. Mito, Rodsy Modhurima, Leonard I. Zon, Song Yang, Erika Weiskopf, Ellen van Rooijen, Maurizio Fazio

المصدر: Pigment Cell Melanoma Res

مصطلحات موضوعية: Proto-Oncogene Proteins B-raf, 0301 basic medicine, Skin Neoplasms, Dermatology, Article, General Biochemistry, Genetics and Molecular Biology, Green fluorescent protein, 03 medical and health sciences, 0302 clinical medicine, In vivo, Biomarkers, Tumor, medicine, Animals, Humans, Copy-number variation, Melanoma, Zebrafish, Gene, biology, Chromosome, Histone-Lysine N-Methyltransferase, Prognosis, biology.organism_classification, medicine.disease, Gene Expression Regulation, Neoplastic, Survival Rate, 030104 developmental biology, Oncology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Mutation, Cutaneous melanoma, Cancer research, Intercellular Signaling Peptides and Proteins, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030f2f4f8f02ccb8a98c29ca702c0f62Test
https://doi.org/10.1111/pcmr.12937Test

7

1p/19q co-deletion status is associated with distinct tumor-associated macrophage infiltration in IDH mutated lower-grade gliomas

المؤلفون: Wei Guo, Jiefu Tang, Anna Dimberg, Liqun He, Qiyuan He, Kai Hua, Lei Zhang, Yuan Xie, Liang Wang, Qingze Cao, Langjun Cui, Yanyu Zhang

المصدر: Cellular Oncology. 44:193-204

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, THP-1 Cells, Tumor-associated macrophage, Biology, Monocytes, Transforming Growth Factor beta1, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Glioma, Tumor-Associated Macrophages, medicine, Animals, Humans, skin and connective tissue diseases, CD86, Brain Neoplasms, Macrophage Colony-Stimulating Factor, General Medicine, Transforming growth factor beta, medicine.disease, Phenotype, Isocitrate Dehydrogenase, Mice, Inbred C57BL, 030104 developmental biology, Isocitrate dehydrogenase, Oncology, Chromosomes, Human, Pair 1, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Cancer research, biology.protein, Molecular Medicine, Female, Tumor necrosis factor alpha, Chromosome Deletion, Neoplasm Grading, Chromosomes, Human, Pair 19, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca512f7395b1049145634942e2bdc96Test
https://doi.org/10.1007/s13402-020-00561Test-1

8

High‐grade gliomas with isocitrate dehydrogenase wild‐type and 1p/19q codeleted: Atypical molecular phenotype and current challenges in molecular diagnosis

المؤلفون: Qiao Zhou, Ling Nie, Jing Gong, Ni Chen, Linmao Zheng, Mengni Zhang, Xueqin Chen, Jing Hou

المصدر: Neuropathology. 40:599-605

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb5a18db6f89f5d2da9f8f3edd4fa8dTest
https://doi.org/10.1111/neup.12672Test

9

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler

المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test

10

Longitudinal molecular trajectories of diffuse glioma in adults

المؤلفون: Lucy F. Stead, Daniel J. Brat, Michael D. Jenkinson, Michael Schuster, Michael Weller, Hiromichi Suzuki, Raul Rabadan, Kristin Alfaro, Do-Hyun Nam, D. Ryan Ormond, Gaetano Finocchiaro, Anzhela D. Moskalik, Hoon Kim, Jason K. Sa, Mustafa Khasraw, Chew Yee Ngan, Andrew E. Sloan, Peter Gould, Mark R. Gilbert, Ganesh Rao, Michael N. C. Fletcher, Brian L. Shaw, Houtan Noushmehr, Ketan R. Bulsara, Naema Nayyar, Elizabeth B. Claus, Colin Watts, Samirkumar B. Amin, Pim J. French, Rameen Beroukhim, Azzam Ismail, Erwin G. Van Meir, Matthew R. Grimmer, Andrew R Brodbelt, Joseph F. Costello, W. K. Alfred Yung, Susan C Short, Meihong Li, Guido Reifenberger, Adelheid Woehrer, Aruna Chakrabarty, Hui K Gan, Keith L. Ligon, Roel G.W. Verhaak, Chul-Kee Park, Simone P. Niclou, Georgette Tanner, Frederick S. Varn, Arnab Chakravarti, Javad Noorbakhsh, Floris P. Barthel, Jason T. Huse, Christoph Bock, Annette M. Molinaro, Georg Widhalm, Alexander F. Bruns, Olajide Abiola, Tathiane M. Malta, Pieter Wesseling, Tali Mazor, Donát Alpár, Peter Lichter, Jill S. Barnholtz-Sloan, Priscilla K. Brastianos, Antonio Iavarone, Laila M. Poisson, Jennifer Connelly, Bernhard Radlwimmer, Gelareh Zadeh, David M. Ashley, Ho Keung Ng, Ghazaleh Tabatabai, Peter A. E. Sillevis Smitt, Mathilde C.M. Kouwenhoven, Elizabeth J. Cochran, Jeffrey H. Chuang, Pratiti Bandopadhayay, Kevin C. Johnson, Marion Smits, Allison Lowman, John de Groot, Kevin J. Anderson, Johanna M. Niers, Bart A. Westerman, Peter S. LaViolette, Emre Kocakavuk, Kenneth Aldape, Kerrie L. McDonald

المساهمون: Neurology, Radiology & Nuclear Medicine, CCA - Cancer biology and immunology, Pathology, Neurosurgery

المصدر: Nature, vol 576, iss 7785
Nature, 576(7785), 112-120. Nature Publishing Group
Nature
Barthel, F P, Johnson, K C, Varn, F S, Moskalik, A D, Tanner, G, Kocakavuk, E, Anderson, K J, Abiola, O, Aldape, K, Alfaro, K D, Alpar, D, Amin, S B, Ashley, D M, Bandopadhayay, P, Barnholtz-Sloan, J S, Beroukhim, R, Bock, C, Brastianos, P K, Brat, D J, Brodbelt, A R, Bruns, A F, Bulsara, K R, Chakrabarty, A, Chakravarti, A, Chuang, J H, Claus, E B, Cochran, E J, Connelly, J, Costello, J F, Finocchiaro, G, Fletcher, M N, French, P J, Gan, H K, Gilbert, M R, Gould, P V, Grimmer, M R, Iavarone, A, Ismail, A, Jenkinson, M D, Khasraw, M, Kim, H, Kouwenhoven, M C M, LaViolette, P S, Li, M, Lichter, P, Ligon, K L, Lowman, A K, Malta, T M, Mazor, T, McDonald, K L, Molinaro, A M, Nam, D H, Nayyar, N, Ng, H K, Ngan, C Y, Niclou, S P, Niers, J M, Noushmehr, H, Noorbakhsh, J, Ormond, D R, Park, C K, Poisson, L M, Rabadan, R, Radlwimmer, B, Rao, G, Reifenberger, G, Sa, J K, Schuster, M, Shaw, B L, Short, S C, Smitt, P A S, Sloan, A E, Smits, M, Suzuki, H, Tabatabai, G, Van Meir, E G, Watts, C, Weller, M, Wesseling, P, Westerman, B A, Widhalm, G, Woehrer, A, Yung, W K A, Zadeh, G, Huse, J T, De Groot, J F, Stead, L F, Verhaak, R G W & The GLASS Consortium 2019, ' Longitudinal molecular trajectories of diffuse glioma in adults ', Nature, vol. 576, no. 7785, pp. 112-120 . https://doi.org/10.1038/s41586-019-1775Test-1, https://doi.org/10.1038/s41586-019-1775Test-1

مصطلحات موضوعية: 0301 basic medicine, Adult, IDH1, General Science & Technology, Medizin, Aneuploidy, Somatic hypermutation, Biology, Polymorphism, Single Nucleotide, Article, Chromosomes, Cohort Studies, 03 medical and health sciences, Diffuse Glioma, 0302 clinical medicine, Rare Diseases, Recurrence, Glioma, medicine, Genetics, Humans, Polymorphism, Cancer, Multidisciplinary, Temozolomide, Pair 19, Brain Neoplasms, Neurosciences, Sequence Analysis, DNA, Single Nucleotide, medicine.disease, Phenotype, Isocitrate Dehydrogenase, GLASS Consortium, Brain Disorders, Brain Cancer, 030104 developmental biology, Immunoediting, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Mutation, Cancer research, Pair 1, Disease Progression, Neoplasm Recurrence, Local, Chromosomes, Human, Pair 19, medicine.drug, Human

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42aa714cc58ed5e72980caca94e04350Test
https://pure.eur.nl/en/publications/b9198630-2a42-471b-be97-3c7b0986e7d4Test

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