المؤلفون: Shapira Rootman M; Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Goldberg Y; The Raphael Recanati Genetic institute, Rabin Medical Center, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Cohen R; Neurology and epilepsy center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Kropach N; The Genetics unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Department of Pediatrics 'B', Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Keidar I; The Raphael Recanati Genetic institute, Rabin Medical Center, Petach Tikva, Israel., Friedland R; The Dermatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dotan G; The Wohl Ophthalmology and Blindness Prevention unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Konen O; Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Toledano H; The Rina Zaizov Hematology-Oncology Division, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; The Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

المصدر: Clinical genetics [Clin Genet] 2020 Feb; Vol. 97 (2), pp. 296-304. Date of Electronic Publication: 2019 Dec 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms/*diagnosis , Colorectal Neoplasms/*diagnosis , DNA Mismatch Repair/*genetics , Neoplasms/*diagnosis , Neoplastic Syndromes, Hereditary/*diagnosis , Tuberous Sclerosis/*diagnosis, Adolescent ; Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Cafe-au-Lait Spots/diagnosis ; Cafe-au-Lait Spots/genetics ; Cafe-au-Lait Spots/pathology ; Child ; Child, Preschool ; Colorectal Neoplasms/diagnostic imaging ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation/genetics ; Neoplasms/diagnostic imaging ; Neoplasms/genetics ; Neoplasms/pathology ; Neoplastic Syndromes, Hereditary/diagnostic imaging ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/pathology ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/pathology ; Pedigree ; Tuberous Sclerosis/diagnostic imaging ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/pathology

SCR Disease Name: Turcot syndrome

المؤلفون: ARENDT A, HERRMANN W

المصدر: Zentralblatt fur allgemeine Pathologie u. pathologische Anatomie [Zentralbl Allg Pathol] 1960 Oct 29; Vol. 101, pp. 243-9.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: G. Fischer Country of Publication: Germany NLM ID: 9105593 Publication Model: Print Cited Medium: Print ISSN: 0044-4030 (Print) Linking ISSN: 00444030 NLM ISO Abbreviation: Zentralbl Allg Pathol Subsets: OLDMEDLINE

مواضيع طبية MeSH: Adrenal Medulla* , Brain Neoplasms* , Neoplasms* , Neuroectodermal Tumors, Primitive* , Neurofibromatosis 1*, Glioblastoma/*complications , Neurofibromatoses/*complications , Pheochromocytoma/*complications, Humans

المؤلفون: NAGER GT

المصدر: The Laryngoscope [Laryngoscope] 1964 Sep; Vol. 74, pp. 1220-61.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print Cited Medium: Print ISSN: 0023-852X (Print) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: OLDMEDLINE

مواضيع طبية MeSH: Brain Neoplasms* , Cochlear Nerve* , Cranial Nerves* , Meningeal Neoplasms* , Meningioma* , Neoplasm Metastasis* , Neurofibromatoses* , Neurofibromatosis 1* , Neurosurgery* , Pathology* , Radiography* , Temporal Bone*, Neoplasms/*diagnosis

المؤلفون: Hildegard Kehrer-Sawatzki, David N. Cooper

المصدر: Human Genetics. 141:177-191

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Brain Neoplasms, Mosaicism, Cafe-au-Lait Spots, Infant, Newborn, Genetic Variation, Infant, eye diseases, nervous system diseases, Diagnosis, Differential, Neoplastic Syndromes, Hereditary, Child, Preschool, Genes, Neurofibromatosis 1, Genetics, Humans, Female, Child, Colorectal Neoplasms, neoplasms, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed48a4acf5e42cb4613f3b5c33aa1315
https://doi.org/10.1007/s00439-021-02410-z

المؤلفون: Xiaojun Yang, Juanjuan Luo, Chun-Jiao Lu, Shaolin Xie, Dongsheng Su, Yihang Pan, Chenchen Zhu, Ningning Li, Pei Liu, De-Sheng Pei, Wan-Ping Bian, Wei Cui

المصدر: Brain

مصطلحات موضوعية: Male, 0301 basic medicine, Neurofibromatosis 1, Mutant, Retinoblastoma Protein, Animals, Genetically Modified, Focal adhesion, 03 medical and health sciences, 0302 clinical medicine, Glioma, medicine, Animals, neoplasms, Zebrafish, PI3K/AKT/mTOR pathway, Temozolomide, biology, Brain Neoplasms, AcademicSubjects/SCI01870, fungi, Original Articles, Zebrafish Proteins, tp53, Cell cycle, zebrafish, medicine.disease, biology.organism_classification, nervous system diseases, Gene expression profiling, 030104 developmental biology, nf1, 030220 oncology & carcinogenesis, Mutation, Cancer research, Female, AcademicSubjects/MED00310, Neurology (clinical), Tumor Suppressor Protein p53, rb1, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b3cc112b0e574afe3561c678cb4445
https://doi.org/10.1093/brain/awaa404

المؤلفون: Jaishri O. Blakeley, Cynthia Hawkins, Fausto J. Rodriguez, Stefan M. Pfister, Uri Tabori, Brian R. Rood, Antonio Iavarone, Roger J. Packer, Eric Bouffet, Tobey J. MacDonald, Stephen Albert Johnston, David T.W. Jones, Lindsay Kilburn, David H. Gutmann, Michael Fisher, Eugene Hwang, Yuan Zhu, Vijay Ramaswamy, Jason Fangusaro

المصدر: Neuro-Oncology

مصطلحات موضوعية: Oncology, Adult, Cancer Research, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Pilocytic Astrocytomas, Reviews, pilocytic astrocytomas, neurofibromatosis type 1, Older patients, Internal medicine, Glioma, medicine, AcademicSubjects/MED00300, Animals, Humans, Neurofibromatosis, Child, neoplasms, business.industry, Brain Neoplasms, Consensus conference, molecular-targeted therapy, medicine.disease, eye diseases, nervous system diseases, gliomas, Editor's Choice, Disease Models, Animal, AcademicSubjects/MED00310, Neurology (clinical), immunotherapy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1334821d9e709090420ee5bb72681b0d
http://europepmc.org/articles/PMC7283027

المؤلفون: Nesia Kropach, Osnat Konen, Rivka Friedland, Rony Cohen, Gad Dotan, Mika Shapira Rootman, Yael Goldberg, Helen Toledano, Inbal Keidar

المصدر: Clinical Genetics. 97:296-304

مصطلحات موضوعية: Male, 0301 basic medicine, Inguinal freckling, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Genetic counseling, 030105 genetics & heredity, Fluid-attenuated inversion recovery, DNA Mismatch Repair, 03 medical and health sciences, Tuberous sclerosis, Neoplastic Syndromes, Hereditary, Tuberous Sclerosis, Neoplasms, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neurofibromatosis, Child, Genetics (clinical), Brain Neoplasms, business.industry, Cafe-au-Lait Spots, Cancer, medicine.disease, Hypomelanotic macule, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Female, DNA mismatch repair, Colorectal Neoplasms, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a62896db12fa0e7515d56755afa55f3
https://doi.org/10.1111/cge.13656

المؤلفون: Jiri Lisy, David Sumerauer, Marie Glombová, Josef Zamecnik, B. Petrak, Petr Liby

المصدر: Brain and Development. 41:678-690

مصطلحات موضوعية: Male, Optic Nerve Glioma, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Brain glioma, Adolescent, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Risk Factors, Glioma, medicine, Humans, Longitudinal Studies, Neurofibromatosis, Child, neoplasms, Czech Republic, Brain Neoplasms, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Brain, Infant, General Medicine, medicine.disease, Aqueduct stenosis, Brain gliomas, nervous system diseases, Hydrocephalus, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), Complication, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e6b85e49b89261fe0683be6257bd9a
https://doi.org/10.1016/j.braindev.2019.04.003

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b15197b55517d0b3353a02b7246e2e
https://pubmed.ncbi.nlm.nih.gov/33585982

المؤلفون: David H. Gutmann, Nicole M. Brossier, Olivia Cobb, Sharanya Thondapu, Sonika Dahiya

المصدر: Neuro Oncol

مصطلحات موضوعية: Optic Nerve Glioma, Cancer Research, Neurofibromatosis 1, Optic glioma, Population, Penetrance, Biology, medicine.disease_cause, Germline, Mice, Germline mutation, medicine, Animals, Humans, Progenitor cell, education, Child, neoplasms, education.field_of_study, Mutation, Brain Neoplasms, medicine.disease, nervous system diseases, Oncology, Child, Preschool, Basic and Translational Investigations, Cancer research, Neurology (clinical), Optic nerve glioma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8d2b78c6b952ecbd8f14112def30d4
https://europepmc.org/articles/PMC8041339/