المؤلفون: Young, Lucy C, Goldstein de Salazar, Ruby, Han, Sae-Won, Huang, Zi Yi Stephanie, Merk, Alan, Drew, Matthew, Darling, Joseph, Wall, Vanessa, Grisshammer, Reinhard, Cheng, Alice, Allison, Madeline R, Sale, Matthew J, Nissley, Dwight V, Esposito, Dominic, Ognjenovic, Jana, McCormick, Frank

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(5)

مصطلحات موضوعية: Humans, Neurofibromatosis 1, Neurofibromin 1, Dimerization, Mutation, Mutation, Missense, NFI, cryo-EM, neurofibromatosis type I, Genetics, Rare Diseases, Neurosciences, Neurofibromatosis, Aetiology, 2.1 Biological and endogenous factors

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/19n3q41hTest

المؤلفون: Stallworth, Jeannette Y, Smith, Loreley D, Vagefi, M Reza, Pekmezci, Melike

المصدر: Ophthalmic plastic and reconstructive surgery. 38(4)

مصطلحات موضوعية: Eyelids, Humans, Neurofibroma, Neurofibroma, Plexiform, Neurofibromatoses, Neurofibromatosis 1, Mutation, Proto-Oncogene Proteins p21(ras), Genetics, Neurosciences, Rare Diseases, Neurofibromatosis, Opthalmology and Optometry, Ophthalmology & Optometry

الوصول الحر: https://escholarship.org/uc/item/1wb2f72bTest

المؤلفون: Sayın Kocakap, DB¹ (AUTHOR) dsayin@yahoo.com, Gündüz, Ö² (AUTHOR), Özer, L³ (AUTHOR), Durak, M² (AUTHOR)

المصدر: Balkan Journal of Medical Genetics. 2021, Vol. 24 Issue 2, p99-102. 4p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *SIBLINGS, *GENETIC mutation, *IRIS (Eye), *MACULES, *NERVOUS system, *CHOROID

المؤلفون: Pan, Yuan, Hysinger, Jared D, Barron, Tara, Schindler, Nicki F, Cobb, Olivia, Guo, Xiaofan, Yalçın, Belgin, Anastasaki, Corina, Mulinyawe, Sara B, Ponnuswami, Anitha, Scheaffer, Suzanne, Ma, Yu, Chang, Kun-Che, Xia, Xin, Toonen, Joseph A, Lennon, James J, Gibson, Erin M, Huguenard, John R, Liau, Linda M, Goldberg, Jeffrey L, Monje, Michelle, Gutmann, David H

المصدر: Nature. 594(7862)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Neurofibromatosis, Brain Disorders, Rare Diseases, Cancer, Stem Cell Research - Nonembryonic - Non-Human, Genetics, Eye Disease and Disorders of Vision, Stem Cell Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Astrocytoma, Cell Adhesion Molecules, Neuronal, Cell Transformation, Neoplastic, Female, Genes, Neurofibromatosis 1, Germ-Line Mutation, Humans, Male, Membrane Proteins, Mice, Mutation, Nerve Tissue Proteins, Neurofibromin 1, Neurons, Optic Nerve, Optic Nerve Glioma, Photic Stimulation, Retina, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1h39417jTest

المؤلفون: Pucciarelli, Daniela, Angus, Steven P, Huang, Benjamin, Zhang, Chi, Nakaoka, Hiroki J, Krishnamurthi, Ganesh, Bandyopadhyay, Sourav, Clapp, D Wade, Shannon, Kevin, Johnson, Gary L, Nakamura, Jean L

المصدر: Molecular Cancer Therapeutics. 19(11)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Orphan Drug, Rare Diseases, Neurofibromatosis, Cancer, Neurosciences, Genetics, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Good Health and Well Being, Animals, Cell Line, Tumor, Computational Biology, Disease Models, Animal, Drug Resistance, Neoplasm, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Humans, Mice, Models, Biological, Mutation, Neurofibromatosis 1, Neurofibromin 1, Protein Kinase Inhibitors, Protein Kinases, Signal Transduction, Transcriptome, Pharmacology and Pharmaceutical Sciences, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9gp5g469Test

المؤلفون: Gross, Andrea M, Frone, Megan, Gripp, Karen W, Gelb, Bruce D, Schoyer, Lisa, Schill, Lisa, Stronach, Beth, Biesecker, Leslie G, Esposito, Dominic, Hernandez, Edjay Ralph, Legius, Eric, Loh, Mignon L, Martin, Staci, Morrison, Deborah K, Rauen, Katherine A, Wolters, Pamela L, Zand, Dina, McCormick, Frank, Savage, Sharon A, Stewart, Douglas R, Widemann, Brigitte C, Yohe, Marielle E

المصدر: American journal of medical genetics. Part A. 182(4)

مصطلحات موضوعية: Humans, Neurofibromatosis 1, Noonan Syndrome, Heart Defects, Congenital, Ectodermal Dysplasia, Facies, Failure to Thrive, ras Proteins, Signal Transduction, Mutation, United States, National Cancer Institute (U.S.), Costello Syndrome, Research Report, Molecular Targeted Therapy, Biomarkers, Tumor, Intersectoral Collaboration, Costello syndrome, Noonan syndrome, RASopathies, Ras/MAP kinase pathway, cardiofaciocutaneous syndrome, Neurosciences, Rare Diseases, Pediatric, Neurofibromatosis, Cancer, Congenital Structural Anomalies, Ras, MAP kinase pathway, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/24m6f4pfTest

المؤلفون: Rodriguez, Fausto J, Graham, Mindy K, Brosnan-Cashman, Jacqueline A, Barber, John R, Davis, Christine, Vizcaino, M Adelita, Palsgrove, Doreen N, Giannini, Caterina, Pekmezci, Melike, Dahiya, Sonika, Gokden, Murat, Noë, Michael, Wood, Laura D, Pratilas, Christine A, Morris, Carol D, Belzberg, Allan, Blakeley, Jaishri, Heaphy, Christopher M

المصدر: Acta Neuropathologica Communications. 7(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Brain Cancer, Cancer, Neurofibromatosis, Brain Disorders, Neurosciences, Rare Diseases, Adult, Brain Neoplasms, Female, Glioma, Humans, Kaplan-Meier Estimate, Male, Mutation, Neurofibromatosis 1, Neurofibromin 1, Neurofibrosarcoma, Telomere, Telomere Homeostasis, Young Adult, NF1, ATRX, Alternative lengthening of telomeres, MPNST, Biochemistry and Cell Biology, Clinical Sciences, Biochemistry and cell biology

الوصول الحر: https://escholarship.org/uc/item/8m62235kTest

المؤلفون: Fernandez, Karen S, Turski, Michelle L, Shah, Avanthi Tayi, Bastian, Boris C, Horvai, Andrew, Hardee, Steven, Sweet-Cordero, E Alejandro

المصدر: Molecular Case Studies. 5(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Pediatric, Rare Diseases, Cancer, Child, Preschool, Family, Female, Humans, Mutation, Neurofibromatosis 1, Sarcoma, Ewing, ras Proteins, Ewing's sarcoma, multiple cafe-au-lait spots, neurofibromas, Pharmacology and pharmaceutical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6dq2j9brTest

المؤلفون: Pemov, Alexander, Hansen, Nancy F, Sindiri, Sivasish, Patidar, Rajesh, Higham, Christine S, Dombi, Eva, Miettinen, Markku M, Fetsch, Patricia, Brems, Hilde, Chandrasekharappa, Settara, Jones, Kristine, Zhu, Bin, Wei, Jun S, Mullikin, James C, Wallace, Margaret R, Khan, Javed, Legius, Eric, Widemann, Brigitte C, Stewart, Douglas R

المصدر: Neuro-Oncology. 21(8)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Neurofibromatosis, Rare Diseases, Neurosciences, Genetics, Pediatric, Cancer, Cyclin-Dependent Kinase Inhibitor p15, Cyclin-Dependent Kinase Inhibitor p16, Humans, Mutation, Nerve Sheath Neoplasms, Neurofibroma, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibrosarcoma, Transcription Factors, atypical neurofibromas, benign-to-malignant transformation, malignant peripheral nerve sheath tumor, neurofibromatosis type 1, plexiform neurofibromas, National Intramural Sequencing Center (NISC) Comparative Sequencing Program, National Cancer Institute (NCI) Division of Cancer Epidemiology and Genetics (DCEG) Cancer Genomics Research Laboratory, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8j58r48qTest

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8m17h094Test