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1
المؤلفون: Eran Cohen‐Barak, Hagit Toledano‐Alhadef, Nada Danial‐Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni‐Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev
المصدر: Experimental Dermatology. 31:775-780
مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Heterozygote, Neurofibromatosis 1, Neurofibromin 1, Humans, Female, Dermatology, Protein Kinase Inhibitors, Molecular Biology, Biochemistry, GTP-Binding Protein alpha Subunits, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d53c3f7858140003fb986693027ca7Test
https://doi.org/10.1111/exd.14514Test -
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المؤلفون: Kadri Murat Erdoğan, Müge Gürçınar, Ajlan Tükün, Semra Gürsoy, Filiz Hazan, Ünsal Yılmaz, Sultan Aydin Köker, Aycan Ünalp, Önder Kalenderer, Bengü Demirağ, Berk Ozyilmaz, Serkan Erkuş
المصدر: Neurological Sciences. 42:2045-2057
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurofibromatosis 1, Locus (genetics), Dermatology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genes, Neurofibromatosis 1, medicine, Humans, Missense mutation, 030212 general & internal medicine, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Gene, Retrospective Studies, Sanger sequencing, Neurofibromin 1, business.industry, Brain, General Medicine, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Cerebellar vermis, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8fcabda371133c1522eefde902847aTest
https://doi.org/10.1007/s10072-020-04988-0Test -
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المؤلفون: Kaberi Feroze, Feroze Kaliyadan
المصدر: Indian Journal of Dermatology, Venereology and Leprology. 88:1-10
مصطلحات موضوعية: Optic Nerve Glioma, 0301 basic medicine, Neurofibromatosis 1, Tumor suppressor gene, Genetic enhancement, medicine.medical_treatment, Dermatology, Bioinformatics, medicine.disease_cause, Nerve Sheath Neoplasms, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cognitive Dysfunction, Molecular Targeted Therapy, Neurofibromatosis, Protein kinase A, Fracture Healing, Neurofibroma, Plexiform, Mutation, biology, business.industry, medicine.disease, Neurofibromin 1, 030104 developmental biology, Infectious Diseases, 030220 oncology & carcinogenesis, biology.protein, business, Tyrosine kinase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53292dc01725fdde78650f9ac4d139edTest
https://doi.org/10.25259/ijdvl_6_2020Test -
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المؤلفون: Hilde Brems, Eric Legius
المصدر: Child's Nervous System. 36:2285-2295
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, medicine.medical_treatment, Disease, Nerve Sheath Neoplasms, Targeted therapy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genes, Neurofibromatosis 1, medicine, Humans, Neurofibroma, Outpatient clinic, Neurofibromatosis, Child, Legius syndrome, biology, Mosaicism, business.industry, Cafe-au-Lait Spots, General Medicine, medicine.disease, Dermatology, Neurofibromin 1, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Quality of Life, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3226e36b7cac0320e93cad06890c9fTest
https://doi.org/10.1007/s00381-020-04771-8Test -
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المؤلفون: Donald Basel, Olivia M. T. Davies, Leah Lalor, Dawn H. Siegel
المصدر: Clinics in Dermatology. 38:421-431
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Genetic syndromes, Dermatology, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Café au lait spot, medicine, Humans, Birthmark, Child, Skin pathology, Genetic Association Studies, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Skin, 030203 arthritis & rheumatology, Neurofibromin 1, business.industry, Cafe-au-Lait Spots, Infant, Newborn, Infant, Skin Diseases, Genetic, Syndrome, Gene deletion, medicine.disease, Cutaneous Involvement, Child, Preschool, Female, medicine.symptom, business, Genetic diagnosis, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a8592c98d98966bd548ce9149aaa93Test
https://doi.org/10.1016/j.clindermatol.2020.03.005Test -
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المؤلفون: Tokimasa Hida, Masashi Idogawa, Masae Okura, Taro Sugawara, Hisashi Uhara, Yasushi Sasaki, Shintaro Sugita, Toshiharu Yamashita, Takashi Tokino
المصدر: The Journal of Dermatology. 47:658-662
مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Genetic counseling, DNA Mutational Analysis, Dermatology, GTP Phosphohydrolases, Neoplasms, Multiple Primary, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Plexiform neurofibroma, Café au lait spot, medicine, Pigmented Nevus, Humans, Nevus, Genetic Testing, Neurofibromatosis, Child, neoplasms, Skin, Neurofibroma, Plexiform, Nevus, Pigmented, Neurofibromin 1, Mosaicism, business.industry, Cafe-au-Lait Spots, Genodermatosis, Membrane Proteins, General Medicine, medicine.disease, eye diseases, nervous system diseases, 030220 oncology & carcinogenesis, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccb82e9d9d4668b1b761448871bdd89Test
https://doi.org/10.1111/1346-8138.15327Test -
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المؤلفون: Alessandro Stella, Nicoletta Resta, Veronica Falcone, Giovanni Alessio, Domenico Piscitelli, Silvana Guerriero, Valeria Albano, Patrizia Lastella
المصدر: European Journal of Ophthalmology. 31:NP45-NP49
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Iris, 03 medical and health sciences, 0302 clinical medicine, Dysplastic nevus syndrome, medicine, Humans, Neurofibromatosis, Iris (anatomy), Melanoma, biology, business.industry, Iris Lesion, Iris melanoma, General Medicine, Middle Aged, medicine.disease, Dermatology, Neurofibromin 1, eye diseases, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Dysplastic nevus, biology.protein, business, Dysplastic Nevus Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7837b6bc499216da0c94e2c5d18da6fcTest
https://doi.org/10.1177/1120672120906999Test -
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المؤلفون: Ellen Denayer, Eric Legius
المصدر: Acta Dermato-Venereologica, Vol 100, Iss 7, p adv00093 (2020)
مصطلحات موضوعية: cal, 0301 basic medicine, SPRED1, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, legius syndrome, Physical examination, Dermatology, 030105 genetics & heredity, Diagnosis, Differential, 03 medical and health sciences, spred1, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Genetic Testing, Neurofibromatosis, Peripheral Nerve Sheath, Adaptor Proteins, Signal Transducing, Legius syndrome, CAL, Neurofibromin 1, medicine.diagnostic_test, business.industry, Cafe-au-Lait Spots, Noonan Syndrome, General Medicine, medicine.disease, Molecular analysis, Phenotype, Increased risk, Iris - Lisch nodules, NF1, nf1, RL1-803, ras Proteins, Mitogen-Activated Protein Kinases, business, Noonan Syndrome with Multiple Lentigines, Signal Transduction
وصف الملف: Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee41030cdb61703b56ca55ca0019812Test
https://doi.org/10.2340/00015555-3429Test -
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المؤلفون: Heather C. Russell, Andrea L Vincent, Shaheen Shah, Corina M Chilibeck
المصدر: Ophthalmic genetics. 42(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Medicine, Near infrared reflectance, Humans, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Adaptor Proteins, Signal Transducing, Retrospective Studies, Neurofibroma, Neurofibromin 1, business.industry, Choroid Neoplasms, Infant, Newborn, Infant, medicine.disease, Dermatology, eye diseases, nervous system diseases, Confocal scanning laser ophthalmoscopy, Natural history, Ophthalmoscopy, Ophthalmology, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Disease Progression, Female, business, Tomography, Optical Coherence, Pediatric population
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef746c23c37b157c809d00960e7c0a8Test
https://pubmed.ncbi.nlm.nih.gov/33594930Test -
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المؤلفون: Esra Isik, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Ozkinay
المصدر: Clinical Neurology and Neurosurgery. 208:106884
مصطلحات موضوعية: Adult, Male, Next-Generation Sequencing, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Inguinal freckling, Neurofibromatosis 1, Adolescent, Turkey, Germline, Genetic counseling, Young Adult, Intracranial hamartoma, Genes, Neurofibromatosis 1, medicine, Humans, Hamartoma, Neurofibromatosis, Child, Genetic Association Studies, Cancer, Neurofibromin 1, business.industry, Cafe-au-Lait Spots, Neurofibromatosis Type-1, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Middle Aged, Molecular Diagnosis, medicine.disease, Dermatology, Nf1 Gene, Management, Serous fluid, Phenotype, Child, Preschool, Ngs, Genotype-Phenotype Correlation, Mutation, Mutation (genetic algorithm), Medical genetics, Female, Surgery, Neurology (clinical), Ovarian cancer, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a6e3338a00541abb560ffafca825a5bTest
https://doi.org/10.1016/j.clineuro.2021.106884Test