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Nature Medicine, ISSN 1078-8956, 2014, Volume 20, Issue 8, pp. 904 - 910
Individuals with neurofibromatosis type-1 (NF1) can manifest focal skeletal dysplasias that remain extremely difficult to treat. NF1 is caused by mutations in... 
MEDICINE, RESEARCH & EXPERIMENTAL | ENZYME-REPLACEMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | TIBIAL PSEUDOARTHROSIS | DISTINCT ROLES | CONGENITAL PSEUDOARTHROSIS | ALKALINE-PHOSPHATASE ACTIVITY | CELL BIOLOGY | SUPPRESSES OSTEOBLAST DIFFERENTIATION | MATRIX MINERALIZATION | INORGANIC PYROPHOSPHATE | NF1 | MORPHOGENETIC PROTEIN-7 | Diphosphates - metabolism | Phosphoric Diester Hydrolases - biosynthesis | Pyrophosphatases - biosynthesis | Humans | Recombinant Fusion Proteins - therapeutic use | Pyrophosphatases - genetics | Child, Preschool | Infant | Bone Diseases, Developmental - genetics | Durapatite - metabolism | Bone Morphogenetic Protein 2 - metabolism | Phosphate Transport Proteins - genetics | Child | Osteogenesis - genetics | Disease Models, Animal | Bone Morphogenetic Protein 2 - genetics | Bone Development - drug effects | Calcification, Physiologic - drug effects | Osteoblasts - enzymology | Mice, Inbred C57BL | Cells, Cultured | Immunoglobulin G - therapeutic use | Phosphate Transport Proteins - biosynthesis | Phosphoric Diester Hydrolases - genetics | Transcription Factors - genetics | Alkaline Phosphatase - therapeutic use | Collagen Type II - genetics | Mice, Knockout | Collagen Type I - biosynthesis | Animals | Alkaline Phosphatase - biosynthesis | Neurofibromatosis 1 - drug therapy | Adolescent | Sp7 Transcription Factor | Mice | Neurofibromin 1 - genetics | Mitogen-Activated Protein Kinases - metabolism | Index Medicus | mesenchymal stem cell | Neurofibromatosis type I | neurofibromin | pyrophosphate | Enpp1 | osteoblast | bone mineralization | Ank | PC1
Journal Article
Journal Article
DIAGNOSTIC PATHOLOGY, ISSN 1746-1596, 07/2019, Volume 14, Issue 1, pp. 77 - 77
BackgroundNeurofibromatosis type-1 (NF1), also called von Recklinghausen disease, is a rare genetic disease which can lead to the development of benign or even... 
Pheochromocytoma | NEUROENDOCRINE TUMORS | Neurofibromatosis type-1 | RESECTION | PATHOLOGY | Neuroendocrine tumor | von Recklinghausen disease | Gastrointestinal stromal tumor | Adults | Neurofibromatosis | Gastrointestinal system | Cancer
Journal Article
Oncotarget, ISSN 1949-2553, 2017, Volume 8, Issue 47, pp. 82910 - 82919
We investigated whether the Neurofibromatosis type-1(NF1) gene was of prognostic relevance to gastric cancer (GC) patients. Immunohistochemical staining of 160... 
Immunohistochemistry | Neurofibromatosis type I | Prognosis | TNM stage | Gastric cancer | neurofibromatosis type I | BREAST-CANCER | gastric cancer | GENE-EXPRESSION | NF1 | TUMOR-SUPPRESSOR | immunohistochemistry | MUTATIONS | prognosis | CELL BIOLOGY
Journal Article
Indian Journal of Thoracic and Cardiovascular Surgery, ISSN 0970-9134, 10/2018, Volume 34, Issue 4, pp. 510 - 512
Anterior mediastinal neurofibroma and neurofibrosarcoma form a rare class of tumors seen in patients of neurofibromatosis. We describe a case of anterior... 
Breathlessness | Medicine & Public Health | Cardiac Surgery | Surgery | Neurofibromatosis | Vascular Surgery | Thoracic Surgery | Neurofibrosarcoma
Journal Article
Monaldi Archives for Chest Disease - Pulmonary Series, ISSN 1122-0643, 2012, Volume 77, Issue 2, pp. 105 - 107
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 04/2018, Volume 66, Issue 4, pp. 586 - 588
Choroidal nodules in neurofibromatosis type-1 are common and are best imaged with near-infrared reflectance (NIR) imaging. The authors describe swept-source... 
swept source | Choroidal hamartoma | neurofibromatosis-1 | infrared imaging | optical coherence tomography angiography | ABNORMALITIES | OPHTHALMOLOGY | Usage | Diagnostic imaging | Research | Diagnosis | Scanning devices | Neurofibromatosis | Medical imaging | Angiography | Lasers | Consent | Tomography | I.R. radiation | Ophthalmology | Patients | Nodules | Case Report
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e46900 - e46900
Skeletal abnormalities including osteoporosis and osteopenia occur frequently in both pediatric and adult neurofibromatosis type 1 (NF1) patients. NF1 (Nf1)... 
BONE-MINERAL-DENSITY | RESORPTION | COLONY-STIMULATING FACTOR | MULTIDISCIPLINARY SCIENCES | NF1 | PROLIFERATION | DIFFERENTIATION | WORTMANNIN | MURINE | CHILDREN | MANIFESTATIONS | Receptor, Macrophage Colony-Stimulating Factor - antagonists & inhibitors | Humans | Osteoporosis - drug therapy | Extracellular Signal-Regulated MAP Kinases - metabolism | Osteoclasts - cytology | Receptor, Macrophage Colony-Stimulating Factor - metabolism | Ribosomal Protein S6 Kinases, 90-kDa - metabolism | Osteoporosis - metabolism | Bone Resorption - genetics | Gene Deletion | Bone Resorption - metabolism | Female | Osteoporosis - genetics | Neurofibromin 1 - metabolism | Osteoclasts - pathology | Signal Transduction | Mice, Inbred C57BL | Bone Resorption - drug therapy | Cells, Cultured | Macrophage Colony-Stimulating Factor - metabolism | Cell Adhesion - drug effects | Enzyme Inhibitors - therapeutic use | Osteoclasts - metabolism | Cell Movement - drug effects | Animals | Osteoporosis - pathology | Bone Resorption - pathology | Mice | Neurofibromin 1 - genetics | Osteoclasts - drug effects | Osteoporosis | Bones | Macrophage colony stimulating factor | Health aspects | Density | Neurofibromatosis | Osteoprogenitor cells | Pediatrics | Migration | Cerebrospinal fluid | Kinases | Macrophages | Biomedical materials | Bone marrow | Biocompatibility | Colony-stimulating factor | Bone density | Bone loss | Osteopenia | Ovariectomy | Abnormalities | Macrophage colony-stimulating factor | Extracellular signal-regulated kinase | Ras protein | Patients | Recklinghausen's disease | Medicine | Studies | Osteoclastogenesis | Signaling | Bone mass | Ligands | Osteoclasts | Mutation | Bone | Aberration | Laboratory animals | Differentiation | Index Medicus
Journal Article
Journal of the Pakistan Medical Association, ISSN 0030-9982, 06/2018, Volume 68, Issue 6, pp. 950 - 952
Optic nerve Schwannoma is a very rare tumour described in literature. The rarity of this tumour is due to the fact that the optic nerve is myelinated by... 
Neurofibromatosis 1 | Optic nerve | Visual | Evoked Potentials | Schwannoma | MEDICINE, RESEARCH & EXPERIMENTAL | MEDICINE, GENERAL & INTERNAL | optic nerve | schwannoma | neurofibromatosis 1 | Neurophysiology
Journal Article
Hippokratia, ISSN 1108-4189, 2017, Volume 21, Issue 1, pp. 63 - 63
Journal Article
PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 3, pp. e0151809 - e0151809
Journal Article