المؤلفون: Cimino, Patrick J.¹ (AUTHOR) pj.cimino@nih.gov, Ketchum, Courtney² (AUTHOR), Turakulov, Rust² (AUTHOR), Singh, Omkar² (AUTHOR), Abdullaev, Zied² (AUTHOR), Giannini, Caterina³ (AUTHOR), Pytel, Peter⁴ (AUTHOR), Lopez, Giselle Yvette⁵ (AUTHOR), Colman, Howard⁶ (AUTHOR), Nasrallah, MacLean P.⁷ (AUTHOR), Santi, Mariarita⁸ (AUTHOR), Fernandes, Igor Lima⁹ (AUTHOR), Nirschl, Jeff¹⁰ (AUTHOR), Dahiya, Sonika¹¹ (AUTHOR), Neill, Stewart¹² (AUTHOR), Solomon, David¹³ (AUTHOR), Perez, Eilis¹⁴ (AUTHOR), Capper, David¹⁴ (AUTHOR), Mani, Haresh¹⁵ (AUTHOR), Caccamo, Dario¹⁶ (AUTHOR)

المصدر: Acta Neuropathologica. Jan2023, Vol. 145 Issue 1, p71-82. 12p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *ASTROCYTOMAS, *MITOGEN-activated protein kinases, *RNA analysis, *GENE fusion, *P16 gene, *EPIGENOMICS, *FALLOPIAN tubes

المؤلفون: Lucas, Calixto-Hope G.^1,2 (AUTHOR), Sloan, Emily A.^1,3 (AUTHOR), Gupta, Rohit¹ (AUTHOR), Wu, Jasper¹ (AUTHOR), Pratt, Drew⁴ (AUTHOR), Vasudevan, Harish N.^5,6 (AUTHOR), Ravindranathan, Ajay¹ (AUTHOR), Barreto, Jairo¹ (AUTHOR), Williams, Erik A.¹ (AUTHOR), Shai, Anny⁶ (AUTHOR), Whipple, Nicholas S.⁷ (AUTHOR), Bruggers, Carol S.⁷ (AUTHOR), Maher, Ossama⁸ (AUTHOR), Nabors, Burt⁹ (AUTHOR), Rodriguez, Michael¹⁰ (AUTHOR), Samuel, David¹¹ (AUTHOR), Brown, Melandee¹² (AUTHOR), Carmichael, Jason¹³ (AUTHOR), Lu, Rufei¹ (AUTHOR), Mirchia, Kanish¹ (AUTHOR)

المصدر: Acta Neuropathologica. Oct2022, Vol. 144 Issue 4, p747-765. 19p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *GLIOMAS, *METHYLGUANINE, *ASTROCYTOMAS, *DELETION mutation, *TUMOR classification

المؤلفون: Fisher, Michael J.¹ (AUTHOR) fisherm@chop.edu, Jones, David T. W.^2,3 (AUTHOR), Li, Yimei⁴ (AUTHOR), Guo, Xiaofan⁵ (AUTHOR), Sonawane, Poonam S.⁶ (AUTHOR), Waanders, Angela J.^1,7 (AUTHOR), Phillips, Joanna J.⁸ (AUTHOR), Weiss, William A.⁹ (AUTHOR), Resnick, Adam C.⁶ (AUTHOR), Gosline, Sara^10,11 (AUTHOR), Banerjee, Jineta¹⁰ (AUTHOR), Guinney, Justin¹⁰ (AUTHOR), Gnekow, Astrid¹² (AUTHOR), Kandels, Daniela¹² (AUTHOR), Foreman, Nicholas K.¹³ (AUTHOR), Korshunov, Andrey¹⁴ (AUTHOR), Ryzhova, Marina¹⁵ (AUTHOR), Massimi, Luca^16,17 (AUTHOR), Gururangan, Sri¹⁸ (AUTHOR), Kieran, Mark W.^19,20 (AUTHOR)

المصدر: Acta Neuropathologica. Apr2021, Vol. 141 Issue 4, p605-617. 13p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *GLIOMAS, *BRAIN tumors, *DIAGNOSIS, *DNA methylation, *PHARMACOGENOMICS

المؤلفون: Nix, J. Stephen¹ (AUTHOR), Blakeley, Jaishri^2,3 (AUTHOR), Rodriguez, Fausto J.^1,3 (AUTHOR) frodrig4@jhmi.edu

المصدر: Acta Neuropathologica. Apr2020, Vol. 139 Issue 4, p625-641. 17p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *CENTRAL nervous system, *GENETIC disorders, *TUBEROUS sclerosis, *AUTISM spectrum disorders, *RAS oncogenes

المؤلفون: Yu, Yanan, Choi, Kwangmin, Wu, Jianqiang, Andreassen, Paul R., Dexheimer, Phillip J., Keddache, Mehdi, Brems, Hilde, Spinner, Robert J., Cancelas, Jose A., Martin, Lisa J., Wallace, Margaret R., Legius, Eric, Vogel, Kristine S., Ratner, Nancy

المصدر: Acta Neuropathologica; Jan2020, Vol. 139 Issue 1, p157-174, 18p

مصطلحات موضوعية: HETEROZYGOSITY, ATAXIA telangiectasia mutated protein, PATHOLOGY, SCHWANN cells, NEUROFIBROMATOSIS 1, GENE expression, NEUROFIBROMA

المؤلفون: Calixto-Hope G, Lucas, Emily A, Sloan, Rohit, Gupta, Jasper, Wu, Drew, Pratt, Harish N, Vasudevan, Ajay, Ravindranathan, Jairo, Barreto, Erik A, Williams, Anny, Shai, Nicholas S, Whipple, Carol S, Bruggers, Ossama, Maher, Burt, Nabors, Michael, Rodriguez, David, Samuel, Melandee, Brown, Jason, Carmichael, Rufei, Lu, Kanish, Mirchia, Daniel V, Sullivan, Melike, Pekmezci, Tarik, Tihan, Andrew W, Bollen, Arie, Perry, Anuradha, Banerjee, Sabine, Mueller, Nalin, Gupta, Shawn L, Hervey-Jumper, Nancy Ann, Oberheim Bush, Mariza, Daras, Jennie W, Taylor, Nicholas A, Butowski, John, de Groot, Jennifer L, Clarke, David R, Raleigh, Joseph F, Costello, Joanna J, Phillips, Alyssa T, Reddy, Susan M, Chang, Mitchel S, Berger, David A, Solomon

المصدر: Acta neuropathologica. 144(4)

مصطلحات موضوعية: Adult, Neurofibromatosis 1, Brain Neoplasms, Homozygote, Humans, Glioma, Astrocytoma, Sequence Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::abcbc5d8120aed0215200aae52828ce2Test
https://pubmed.ncbi.nlm.nih.gov/35945463Test

المؤلفون: Jaishri O. Blakeley, Fausto J. Rodriguez, J Stephen Nix

المصدر: Acta Neuropathol

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Brain tumor, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Tuberous sclerosis, 0302 clinical medicine, Central Nervous System Diseases, Glioma, medicine, Animals, Humans, Genetic Predisposition to Disease, Neurofibromatosis, neoplasms, ATRX, biology, business.industry, Genetic disorder, Macrocephaly, medicine.disease, Neurofibromin 1, nervous system diseases, 030104 developmental biology, Cancer research, biology.protein, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc21f64254d7848d4e3d044e092a3fdcTest
https://doi.org/10.1007/s00401-019-02002-2Test

المؤلفون: Ingrid Øra, William A. Weiss, Alexander C Sommerkamp, Mariko Sato, Joanna J. Phillips, Marina Ryzhova, Stefan Holm, Mark W. Kieran, Justin Guinney, Sara J. C. Gosline, Stefan M. Pfister, Daniela Kandels, Sridharan Gururangan, Adam C. Resnick, David T.W. Jones, Angela J. Waanders, Yimei Li, Jineta Banerjee, Luca Massimi, Nicholas K. Foreman, Maryam Fouladi, Andrea Wittmann, Astrid Gnekow, David H. Gutmann, Pengbo Beck, Natalie Jäger, Zhihong Wang, Poonam Sonawane, Michael Fisher, Xiaofan Guo, Stephen J Markham, Andrey Korshunov, Felix Sahm

المصدر: Acta neuropathologica. 141(4)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Population, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Neurofibromatosis, education, Child, neoplasms, Mutation, education.field_of_study, Clinical pathology, Pilocytic astrocytoma, business.industry, Brain Neoplasms, Astrocytoma, Infant, Methylation, Glioma, medicine.disease, nervous system diseases, 030104 developmental biology, Child, Preschool, DNA methylation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b15197b55517d0b3353a02b7246e2eTest
https://pubmed.ncbi.nlm.nih.gov/33585982Test

المؤلفون: Phillip J. Dexheimer, Kristine S. Vogel, Kwangmin Choi, Hilde Brems, Jianqiang Wu, Eric Legius, Jose A. Cancelas, Yanan Yu, Mehdi Keddache, Margaret R. Wallace, Lisa J. Martin, Paul R. Andreassen, Nancy Ratner, Robert J. Spinner

المصدر: Acta Neuropathol

مصطلحات موضوعية: 0301 basic medicine, Neurofibromatosis 1, Population, Mutation, Missense, Ataxia Telangiectasia Mutated Proteins, Biology, Gene mutation, medicine.disease_cause, Germline, Article, Pathology and Forensic Medicine, Loss of heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, Plexiform neurofibroma, Genes, Neurofibromatosis 1, Exome Sequencing, medicine, Neurofibroma, Animals, Humans, education, Exome sequencing, Neurofibroma, Plexiform, education.field_of_study, Mutation, Fibroblasts, medicine.disease, 030104 developmental biology, Cancer research, Neurology (clinical), Schwann Cells, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a289fee013eaecff21fbe2891c7fceefTest
https://pubmed.ncbi.nlm.nih.gov/31664505Test

المؤلفون: Rodriguez, Fausto, Vizcaino, M., Blakeley, Jaishri, Heaphy, Christopher

المصدر: Acta Neuropathologica; Nov2016, Vol. 132 Issue 5, p761-763, 3p

مصطلحات موضوعية: THALASSEMIA, INTELLECTUAL disabilities, TELOMERES, NEUROFIBROMATOSIS 1, ASTROCYTOMAS, GENETICS, PATIENTS