Keywords: نورفیبروماتوز نوع یک; Forensic pathology; Neurofibromatosis type 1; Vasculopathy; Internal carotid artery; Sudden death
مقالات ISI نورفیبروماتوز نوع یک (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Un hémithorax blanc chez une jeune portant des tâches café au lait
Keywords: نورفیبروماتوز نوع یک; Neurofibromatose type 1; Maladie de Von Recklinghausen; Hémorragie; Pleurésie; Hémothorax; Chirurgie; Urgence; Neurofibromatosis type 1; Von Recklinghausen disease; Hemorrhage; Pleural effusion; Haemothorax; Surgery; Emergency;
Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation
Keywords: نورفیبروماتوز نوع یک; CALM; café-au-lait macules; NF1; neurofibromatosis type 1; TK; tyrosine kinase;
La neurofibromatose rend souvent essoufflé
Keywords: نورفیبروماتوز نوع یک; Neurofibromatose de type 1; Méningocèle; Insuffisance respiratoire chronique; Ventilation non invasive; Hypertension pulmonaire; Neurofibromatosis type 1; Meningoceles; Chronical respiratory failure; Non-invasive ventilation; Pulmonary hypertension;
Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Sphenoid wing dysplasia; Sphenoethmoidal defect;
Clinical findings and mutation analysis of NF1 patients in Turkey
Keywords: نورفیبروماتوز نوع یک; NF1; neurofibromatosis type 1; GTPase; Ras guanosine triphosphatase; NIH; National Institutes of Health; SSCP; single strand conformation polymorphism; HRM; High Resolution Melting Curve; CLS; café-au-lait spots; CN; cutaneous neurofibromas; LN; lisch no
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; plexiform neurofibroma; tumor response evaluation; volumetric MRI;
Immunohistochemical evaluation of H3K27 trimethylation in malignant peripheral nerve sheath tumors
Keywords: نورفیبروماتوز نوع یک; Malignant peripheral nerve sheath tumor; H3K27me3; Neurofibromatosis type 1; Polycomb repressive complex 2; Heterochronous;
The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Epiregulin; EGFR; Bone marrow stromal cells; Osteoblasts; Differentiation; RAS-MAPK signaling;
THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Membranous nephropathy; THSD7A;
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment
Keywords: نورفیبروماتوز نوع یک; Congenital nystagmus; Dravet's syndrome; Fragile X syndrome; GABA; Intellectual disability syndrome; Neurofibromatosis type 1; NONO; Rett syndrome; Succinic semialdehyde dehydrogenase deficiency;
A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Bone deformity; Jaw; Temporomandibular joint; Orthopantomogram;
Le phéochromocytome composite : une tumeur rare de la surrénale
Keywords: نورفیبروماتوز نوع یک; Phéochromocytome composite; Ganglioneurome; Neurofibromatose type 1; Surrénale; Composite pheochromocytome; Ganglioneuroma; Neurofibromatosis type 1; Adrenal gland;
Original ArticleEndoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience
Keywords: نورفیبروماتوز نوع یک; Endoscopic third ventriculostomy; Hydrocephalus; Neurofibromatosis type 1; Ommaya; Optic pathway glioma; Stent; ETV; Endoscopic third ventriculostomy; ETVSS; ETV success score; EVD; External ventricular drain; ICP; Intracranial pressure; MRI; Magnetic res
Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls - Two pathways to success
Keywords: نورفیبروماتوز نوع یک; Conflict processing; Neurofibromatosis type 1; EEG; Source localisation; Cognitive control;
Mini-symposium: Endocrine pathologyPancreatic endocrine neoplasia: familial syndromes
Keywords: نورفیبروماتوز نوع یک; glucagon cell adenomatosis; inherited pancreatic neuroendocrine tumours; lynch syndrome; multiple endocrine neoplasia type 1; multiple endocrine neoplasia type 4MUTYH; neurofibromatosis type 1; succinate dehydrogenase; tuberous sclerosis; von Hippel-Linda
Original ArticleClinical Value of Multiparametric Whole-Body Magnetic Resonance Imaging over Whole-Spine Magnetic Resonance Imaging in Patients with Neurofibromatosis Type I
Keywords: نورفیبروماتوز نوع یک; DWI; Neurofibromatosis; Tumor burden; Whole-body MRI; Whole-spine MRI; ADC; Apparent diffusion coefficient; ICC; Intraclass correlation; MPNST; Malignant peripheral nerve sheath tumor; MRI; Magnetic resonance imaging; NF1; Neurofibromatosis type 1; SD; St
Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules
Keywords: نورفیبروماتوز نوع یک; algorithm; café-au-lait macules; neurofibromatosis type 1; prediction; AUC; area under the curve; CALM; café-au-lait macule; CI; confidence interval; NF1; neurofibromatosis type 1; NIH; National Institutes of Health;
Neurofibromatosis as a gateway to better treatment for a variety of malignancies
Keywords: نورفیبروماتوز نوع یک; NF; neurofibromatoses; NF1; neurofibromatosis type 1; NF2; neurofibromatosis type 2; WHO; World Health Organization; PN; plexiform neurofibromas; MPNST; malignant peripheral nerve sheath tumors; FTase; farnesyl transferase; TTP; time-to-progression; OPG;
Pharmacologically targeting beta-catenin for NF1 associated deficiencies in fracture repair
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Fracture repair; Osteoblast differentiation; Nefopam;
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM⢠platform
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Legius's syndrome; Next generation sequencing; Mosaicism;
Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; DNA methylation; DNA demethylation; MAGEB2; Neurofibromatosis type 1; Malignant peripheral nerve sheath tumor
Hematoma cervical e hemotórax espontâneos no contexto de neurofibromatose tipo I
Keywords: نورفیبروماتوز نوع یک; Neurofibromatose tipo 1; Doença de von Recklinghausen; Hemorragia espontânea; Hemotórax; Neurofibromatosis type 1; Von Recklinghausen disease; Acute hemorrhage; Hemothorax;
Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Giant cell granuloma mandible; Second hit mutation; Hypodontia; Hashimoto's thyroiditis; Dysembryoplastic neuroepithelial tumour
Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature
Keywords: نورفیبروماتوز نوع یک; neurofibromatosis type 1; Recklinghausen disease; café-au-lait macules; children; clinical diagnosis; genetic testing;
Clinical characteristics and late effects in CNS tumours of childhood: Do not forget long term follow-up of the low grade tumours
Keywords: نورفیبروماتوز نوع یک; Childhood; CNS-tumour; Cognitive; Late effects; Low grade; CNS; Central nervous system; WHO; World Health Organization; NF-1; Neurofibromatosis type 1; NF-2; Neurofibromatosis type 2; TSC; Tuberous sclerosis complex; DNET; Dysembryoplastic neuroepithelial
Immune markers in the RASopathy neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; APC; Allophycocyanin; IL-1β; interleukin-1 beta; IL-6; interleukin-6; IL-8; interleukin-8; IL-10; interleukin-10; IL-17; interleukin-17; INF; interferon; IP-10; interferon-gamma inducible; GTP; guanosine triphosphate; MW; Mann-Whitney; MCP-1; monocyte
An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Juvenile xanthogranuloma; Nevus anemicus; Glomus tumor; Malignant peripheral nerve sheath tumor; Glioma; Melanoma; Genetic counselingNeurofibromatosis tipo 1; Xantogranuloma juvenil; Nevus anemicus; Tumor glómico; Tumor maligno d
An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Cafe-au-lait spots; Ephelids; Freckling; Neurofibroma; Legius syndrome; RASopathies; LEOPARD syndrome; Albinism; NeurofibrominNeurofibromatosis tipo 1; Mancha café con leche; Efélides; Pecas; Neurofibroma; Síndrome de Legius; Ras
Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas
Keywords: نورفیبروماتوز نوع یک; NF1; neurofibromatosis type 1; LGG; low grade glioma; MAPK; mitogen activated protein kinase; mTOR; mammalian target of rapamycin; PA; pilocytic astrocytoma; MPNST; malignant peripheral nerve sheath tumours; GAP; GTPase-activating protein; RB; retinoblast
Thrombin and protein C pathway in peripheral nerve Schwann cells
Keywords: نورفیبروماتوز نوع یک; ALS; Amyotrophic Lateral Sclerosis; aPC; activated protein C; Dvl-2; dishevelled-2; EPCR; endothelial protein C receptor; LTP; long-term potentiation; MPNST; malignant peripheral nerve sheath tumors; NF1; Neurofibromatosis type 1; PAR1; protease-activated
Imagerie de la neurofibromatose de type 1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatose de type 1; NF1; Neurofibrome; Scoliose; Tumeur cérébrale; Tumeur des nerfs périphériques; Brain tumor; Nerve sheath neoplasms; Neurofibroma; Neurofibromatosis type 1; NF1; Scoliosis;
A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease
Keywords: نورفیبروماتوز نوع یک; Moyamoya disease; quasi-moyamoya disease; neurofibromatosis type 1; cerebral infarction; intracerebral hemorrhage;
Applied nutritional investigationNutrient intake in neurofibromatosis type 1: A cross-sectional study
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Nutritional status; Food intake; Nutrient; Dietary pattern;
Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association
Keywords: نورفیبروماتوز نوع یک; Sarcoma with CIC-DUX4 gene fusion; Undifferentiated small round cell sarcoma; Ewing-like sarcoma; Neurofibromatosis type 1; Reverse transcription polymerase chain reaction
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Cephalometery; Dysmorphology; Sphenoid wing dysplasia
Original articleComparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Von Recklinghausen disease; Optic pathway glioma; Ophthalmological screening;
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; NF1; Genetic testing; Enzyme mismatch cleavage; CEL nuclease; DNA microarray
Abnormal relationship between GABA, neurophysiology and impulsive behavior in neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; Electroencephalography; Impulse control disorders; Prefrontal cortex; Magnetic resonance spectroscopy; Gamma-aminobutyric acid; Neurofibromatosis type 1;
Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Vitamin D3 deficiency;
Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes
Keywords: نورفیبروماتوز نوع یک; NF1; neurofibromatosis type 1; MEN2; Multiple Endocrine Neoplasia type 2; MTC; medullary thyroid carcinoma; CCH; C-cell hyperplasia; C-cells; parafollicular cells; CT; calcitonin; PKA; protein kinase A; Neurofibromatosis type 1; NF1 gene; RET gene; Thyroi
Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; Von Recklinghausen disease; mTOR serine threonine kinases; Proto-oncogene protein ras; Nephrotic syndrome; Acute myeloid leukemia; Blood disease;
Compounds from Simarouba berteroana which inhibit proliferation of NF1-defective cancer cells
Keywords: نورفیبروماتوز نوع یک; Simarouba berteroana; Neurofibromatosis type 1; Canthine alkaloids; Growth inhibition; Glioblastomas;
Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I
Keywords: نورفیبروماتوز نوع یک; IGF-1; Insulin-like growth factor -1; MRI; Magnetic resonance imaging; NF1; Neurofibromatosis type 1; PN; Plexiform neurofibroma; PR; Progesterone receptor;
Nódulos de Lisch y ultrabiomicroscopia
Keywords: نورفیبروماتوز نوع یک; Lisch; Nódulos de Lisch; Neurofibromatosis tipo 1; Neurofibromatosis revisión; Neurofibromatosis óptica; UltrabiomicroscopiaLisch; Lisch nodules; Neurofibromatosis type 1; Neurofibromatosis review; Neurofibromatosis optic; Ultrabiomicroscopy
Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing
Keywords: نورفیبروماتوز نوع یک; CT; Computed Tomography; CTA; Computed Tomography Angiography; FDR; False Discovery Rate; GO; Gene Ontology; Indel; Insertion-Deletion; LOD; Logarithm of Odds; MEN2; Multiple Endocrine Neoplasia Type 2; MN; Metanephrine; NF1; Neurofibromatosis Type 1; N
Polyadenylation site-specific differences in the activity of the neuronal βCstF-64 protein in PC-12 cells
Keywords: نورفیبروماتوز نوع یک; Add2; mouse gene encoding β-adducin; CstF; cleavage stimulation factor; CstF-64; cleavage stimulation factor, 64,000 Mr subunit; βCstF-64; brain-specific splice variant of CstF-64; CstF-77; cleavage stimulation factor, 77,000 Mr subunit; Cstf2; mouse or
Nevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion
Keywords: نورفیبروماتوز نوع یک; café-au-lait macules; Legius syndrome; neurofibromatosis type 1; nevus anemicusCALM, café-au-lait macule; JXG, juvenile xanthogranuloma; NA, nevus anemicus; NF1, neurofibromatosis type 1; NIH, National Institutes of Health; OG, optic glioma; PN, plexiform
Neurofibromatosis type 1, gastrointestinal stromal tumor, leiomyosarcoma and osteosarcoma: Four cases of rare tumors and a review of the literature
Keywords: نورفیبروماتوز نوع یک; Neurofibromatosis type 1; GIST; Somatostatinoma; Osteosarcoma; Leiomyosarcoma
The systems biology of neurofibromatosis type 1 - Critical roles for microRNA
Keywords: نورفیبروماتوز نوع یک; MicroRNA; Systems biology; Neurofibromatosis type 1; Malignant peripheral nerve sheath tumor; Gene module; Gene network; Transcription factor;