المؤلفون: Gozde Yesil, Nilay Güneş, Busra Kasap, Tiraje Celkan, Rejin Kebudi, Filiz Geyik, Beyhan Tüysüz

المساهمون: YEŞİL, Gözde

المصدر: Annals of Human Genetics. 85:155-165

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Turkey, Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients-, ANNALS OF HUMAN GENETICS, 2021 [Gunes N., YEŞİL G., Geyik F., Kasap B., Celkan T., Kebudi R., TÜYSÜZ B., -Neurofibromatosis type 1], Genotype phenotype, Correlation, Young Adult, 03 medical and health sciences, Age groups, Genetics, Humans, Medicine, In patient, Multiplex, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Child, neoplasms, Genetic Association Studies, Genetics (clinical), Retrospective Studies, 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, eye diseases, nervous system diseases, Child, Preschool, population characteristics, Female, business, Multiplex Polymerase Chain Reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245de901af46dc132487b061e1be4b4fTest
https://doi.org/10.1111/ahg.12422Test

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

المصدر: Molecular cancer therapeutics, vol 19, iss 11
Mol Cancer Ther

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Drug Resistance, Drug resistance, Loss of heterozygosity, Transcriptome, Mice, 0302 clinical medicine, Models, Kinome, Cancer, Tumor, Neurofibromin 1, Effector, High-Throughput Nucleotide Sequencing, Pharmacology and Pharmaceutical Sciences, Phenotype, Oncology, 5.1 Pharmaceuticals, 030220 oncology & carcinogenesis, Development of treatments and therapeutic interventions, Signal Transduction, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Oncology and Carcinogenesis, Context (language use), Biology, Article, Cell Line, Neurofibromatosis, 03 medical and health sciences, Rare Diseases, Genetics, Animals, Humans, Oncology & Carcinogenesis, Protein Kinase Inhibitors, PI3K/AKT/mTOR pathway, Animal, Gene Expression Profiling, Neurosciences, Computational Biology, Biological, nervous system diseases, Orphan Drug, Good Health and Well Being, 030104 developmental biology, Disease Models, Mutation, Cancer research, Neoplasm, Protein Kinases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd615db499ff0a87ce90f0128a2ca35fTest
https://doi.org/10.1158/1535-7163.mct-19-1017Test

المؤلفون: David Neil Cooper, Hildegard Kehrer-Sawatzki

المصدر: Human Genetics

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Microarray analysis techniques, DNA Mutational Analysis, Review, Biology, medicine.disease, Phenotype, Human genetics, eye diseases, nervous system diseases, Genotype, medicine, Humans, Global developmental delay, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Multiplex Polymerase Chain Reaction, Gene, neoplasms, Gene Deletion, Genetic Association Studies, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e614c77042a8e3cbbdbb06905377e8e4Test
https://orca.cardiff.ac.uk/id/eprint/144613/3/Kehrer-Sawatzki-Cooper2021_Article_ClassificationOfNF1Microdeleti.pdfTest

المؤلفون: Christian Hagel, Reinhard E Friedrich, Martin Zenker, Ina Schanze, Ilse Wieland, Felix K Kohlrusch

المصدر: Anticancer Research. 40:3423-3427

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Somatic cell, Biopsy, Gene mutation, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Plexiform neurofibroma, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Neurofibromatosis, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, Leg, integumentary system, Mosaicism, business.industry, General Medicine, Middle Aged, medicine.disease, Penetrance, Phenotype, nervous system diseases, Oncology, 030220 oncology & carcinogenesis, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a0502782ca1219dfcf530b4d508692Test
https://doi.org/10.21873/anticanres.14327Test

المؤلفون: Rajesh Khanna, Dawn E. Quelle, Johanna Uthoff, Kimberly E. Schroeder, Jared Larson, Jill M. Weimer, Frank Rohret, Benjamin W. Darbro, Takashi Shawn Sato, Christopher S. Rogers, David K. Meyerholz, Jessica C. Sieren, Emily Hammond

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

مصطلحات موضوعية: Inguinal freckling, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Time Factors, Swine, lcsh:Medicine, Article, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, Track disease, medicine, Animals, Humans, Neurofibroma, Neurofibromatosis, lcsh:Science, neoplasms, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Tibia, medicine.diagnostic_test, business.industry, Neurodegenerative diseases, lcsh:R, Autosomal dominant trait, Magnetic resonance imaging, Translational research, medicine.disease, Magnetic Resonance Imaging, Phenotype, eye diseases, nervous system diseases, Experimental models of disease, Disease Models, Animal, Disease Progression, Swine, Miniature, lcsh:Q, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery, Large animal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcc3e0aa800cac64bd4272b20105f2dTest
http://link.springer.com/article/10.1038/s41598-020-61251-4Test

المؤلفون: Luca Pannone, Daniela Melis, Marco Tartaglia, Lucio Mariniello, Alessandra D'Amico, Valentina Pinna, Giulio Piluso, Antonia Assunto, Carmen Rosano, Claudia Santoro, Paola Daniele, Marialetizia Motta, Lorenzo Ugga, Simone Martinelli, Pietro Strisciuglio, Maria Siano, Alessandro De Luca, Roberta Mandile

المساهمون: D'Amico, A., Rosano, C., Pannone, L., Pinna, V., Assunto, A., Motta, M., Ugga, L., Daniele, P., Mandile, R., Mariniello, L., Siano, M. A., Santoro, C., Piluso, G., Martinelli, S., Strisciuglio, P., De Luca, A., Tartaglia, M., Melis, D.

مصطلحات موضوعية: Male, Models, Molecular, Protein Conformation, DNA Mutational Analysis, Regulator, Protein Tyrosine Phosphatase, Non-Receptor Type 11, PTPN11, Models, Missense mutation, Noonan syndrome, Child, Genetics (clinical), Genetics, genetic modifier, Massive parallel sequencing, biology, Brain, Magnetic Resonance Imaging, Pedigree, Phenotype, Female, MRI, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Mutation, Missense, RASopathy, Non-Receptor Type 11, Structure-Activity Relationship, Genes, Neurofibromatosis 1, medicine, Humans, Family, Genetic Predisposition to Disease, Neurofibromatosis, Genetic Association Studies, Molecular, genetic modifiers, medicine.disease, Neurofibromin 1, nervous system diseases, NF1, Mutation, Genes, biology.protein, Protein Tyrosine Phosphatase, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375a98da083f71607fc5cc7491dd89a8Test
http://hdl.handle.net/11591/454719Test

المؤلفون: Irén Haltrich, Eva Pinti, György Fekete, Anna Lengyel, Krisztina Németh, Krisztina Staub

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Pediatrics

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Genetic counseling, Cafe-au-Lait spots, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Neurofibromatosis type 1-like syndrome, Tumor predisposition, medicine, Humans, Genetic Testing, Expressivity (genetics), Neurofibromatosis, Child, neoplasms, Risk assessment, Genetic testing, Neurofibroma, medicine.diagnostic_test, business.industry, Research, Genes, tumor suppressor, Syndrome, Oncogenes, Geneticist, Early diagnosis, medicine.disease, nervous system diseases, Phenotype, 030104 developmental biology, National Institutes of Health (U.S.), 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Cohort, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc9881f68852a5b8166a68cf38060b3Test
https://doi.org/10.1186/s12887-021-02791-0Test

المؤلفون: Viviana, Tritto, Luca, Ferrari, Silvia, Esposito, Paola, Zuccotti, Donatella, Bianchessi, Federica, Natacci, Veronica, Saletti, Marica, Eoli, Paola, Riva

المصدر: Genes

مصطلحات موضوعية: Neurofibroma, Plexiform, Optic Nerve Glioma, Neurofibroma, Neurofibromatosis 1, RNA, Untranslated, Genotype, ANRIL variants, mild NF1 phenotype, Loss of Heterozygosity, Astrocytoma, neurofibromatosis type 1, ncRNA, Nerve Sheath Neoplasms, Article, nervous system diseases, MicroRNAs, tumor development, Phenotype, Genes, Neurofibromatosis 1, Humans, RNA, Long Noncoding, optic glioma, neoplasms, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fb9729d3919728edf48071b3431f3943Test
https://pubmed.ncbi.nlm.nih.gov/31694342Test

المؤلفون: Yiping Qu, Maoguo Shu, Yuchen Zhang, Shu-Zhong Guo, Rongsheng Zhou, Zhuan-Li Bai

المصدر: Archives of Medical Research. 48:498-505

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Epithelial-Mesenchymal Transition, Neurofibromatosis 1, Blotting, Western, Mice, Nude, Schwann cell, medicine.disease_cause, Mice, 03 medical and health sciences, chemistry.chemical_compound, Western blot, Cell Movement, Genes, Neurofibromatosis 1, medicine, Animals, Neurofibroma, Epithelial–mesenchymal transition, neoplasms, Cells, Cultured, Cell Proliferation, Wound Healing, Gene knockdown, Neurofibromin 1, Thioctic Acid, medicine.diagnostic_test, Chemistry, General Medicine, medicine.disease, Phenotype, Up-Regulation, nervous system diseases, Cell biology, Cell Transformation, Neoplastic, 030104 developmental biology, medicine.anatomical_structure, Lipoamide, Schwann Cells, Reactive Oxygen Species, Carcinogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18ced81f1a50c1b7e9f714168e8d126Test
https://doi.org/10.1016/j.arcmed.2017.11.014Test

المؤلفون: Karl Degenhardt, Mark P. Johnson, Rebecca C. Ahrens-Nicklas, Stefanie Kasperski, Matthew J. O'Connor, Alyssa Ritter, Sanmati Cuddapah

المصدر: American Journal of Medical Genetics Part A. 179:1042-1046

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Genotype, Heart disease, Cardiomyopathy, Left ventricular hypertrophy, Ultrasonography, Prenatal, Fetus, Pregnancy, Intensive Care Units, Neonatal, Prenatal Diagnosis, Genetics, Humans, Medicine, Neurofibromatosis, Family history, neoplasms, Genetics (clinical), Neurofibromatosis type I, Neurofibromin 1, business.industry, Pregnancy Outcome, Genetic disorder, medicine.disease, eye diseases, nervous system diseases, Radiography, Phenotype, Mutation, Female, Hypertrophy, Left Ventricular, Differential diagnosis, Cardiomyopathies, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29e41bbb02a8f7301ff6fd8bab8ef61Test
https://doi.org/10.1002/ajmg.a.61123Test