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Lancet Oncology, The, ISSN 1470-2045, 2015, Volume 16, Issue 8, pp. 949 - 956
Summary Background Diffuse-type tenosynovial giant cell tumour (dt-GCT) of the soft tissue (alternatively known as pigmented villonodular synovitis), an orphan... 
Hematology, Oncology and Palliative Medicine | PIGMENTED VILLONODULAR SYNOVITIS | DIAGNOSIS | THERAPY | EFFICACY | ONCOLOGY | PERIORBITAL EDEMA SECONDARY | MACROPHAGES | RECEPTOR | ANTIBODY | ARTHRITIS | IMATINIB MESYLATE | Receptor, Macrophage Colony-Stimulating Factor - antagonists & inhibitors | Receptor, Macrophage Colony-Stimulating Factor - immunology | Giant Cell Tumors - immunology | Humans | Middle Aged | Antibodies, Monoclonal - adverse effects | Giant Cell Tumors - pathology | Soft Tissue Neoplasms - drug therapy | Male | Antineoplastic Agents - administration & dosage | Giant Cell Tumors - metabolism | Receptor, Macrophage Colony-Stimulating Factor - metabolism | Synovitis, Pigmented Villonodular - drug therapy | Synovitis, Pigmented Villonodular - pathology | Soft Tissue Neoplasms - immunology | Young Adult | Time Factors | Antineoplastic Agents - adverse effects | Aged, 80 and over | Adult | Female | Drug Administration Schedule | Soft Tissue Neoplasms - metabolism | Synovitis, Pigmented Villonodular - metabolism | Treatment Outcome | Synovitis, Pigmented Villonodular - immunology | Giant Cell Tumors - drug therapy | Signal Transduction - drug effects | Antibodies, Monoclonal - administration & dosage | Adolescent | Soft Tissue Neoplasms - pathology | Aged | Infusions, Intravenous | Monoclonal antibodies | Macrophage colony stimulating factor | Tumors
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2011, Volume 67, Issue 1, pp. 54 - 59.e1
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2013, Volume 133, Issue 9, pp. 2229 - 2236
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in , , and have been described... 
MC1R | VARIANTS | RAS | BRAF MUTATIONS | HIGH-FREQUENCY | PHENOTYPE | NEUROLOGICALLY ASYMPTOMATIC CHILDREN | ASSOCIATION | REGISTRY | MOSAICISM | DERMATOLOGY | Meningeal Neoplasms - epidemiology | Prevalence | Nevus, Pigmented - epidemiology | Humans | Child, Preschool | Male | Neurocutaneous Syndromes - congenital | Meningioma - genetics | Mutation, Missense - genetics | Loss of Heterozygosity - genetics | Hamartoma - pathology | Young Adult | Hamartoma - genetics | Nevus, Pigmented - genetics | Meningioma - epidemiology | Zygote | Female | Genetic Predisposition to Disease - epidemiology | Neurocutaneous Syndromes - epidemiology | Child | Melanosis - epidemiology | Melanosis - genetics | Neurocutaneous Syndromes - genetics | Genetic Predisposition to Disease - genetics | Meningeal Neoplasms - genetics | Membrane Proteins - genetics | Central Nervous System Neoplasms - genetics | Risk Factors | Hamartoma - epidemiology | Central Nervous System Neoplasms - epidemiology | Melanosis - congenital | Skin Neoplasms - epidemiology | Nevus, Pigmented - congenital | Magnetic Resonance Imaging | Meningioma - pathology | Central Nervous System Neoplasms - pathology | GTP Phosphohydrolases - genetics | Skin Neoplasms - congenital | Skin Neoplasms - genetics | Adolescent | Mosaicism | Meningeal Neoplasms - pathology | Index Medicus | Original
Journal Article
European Journal of Neurology, ISSN 1351-5101, 01/2018, Volume 25, Issue 1, pp. 142 - 147
Background and purpose To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to... 
diagnostic criteria | adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia | colony‐stimulating factor 1 receptor | alanyl‐transfer RNA synthetase 2 | leukoencephalopathy | pigmented orthochromatic leukodystrophy | hereditary diffuse leukoencephalopathy with spheroids | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | colony-stimulating factor 1 receptor | alanyl-transfer RNA synthetase 2 | HDLS | LEUKODYSTROPHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Leukoencephalopathies - pathology | Diagnosis, Differential | Leukoencephalopathies - genetics | Reproducibility of Results | CADASIL - pathology | Neuroglia - pathology | Humans | Middle Aged | Spheroids, Cellular - pathology | Male | Tomography, X-Ray Computed | CADASIL - genetics | Young Adult | Magnetic Resonance Imaging | Receptors, Granulocyte-Macrophage Colony-Stimulating Factor - genetics | Axons - pathology | Cognition Disorders - etiology | Leukoencephalopathies - diagnosis | Adolescent | CADASIL - diagnosis | Adult | Female | Receptor, Notch3 - genetics | Aged | Genetic aspects | Diagnosis | Ligases | Leukoencephalopathy | Analysis | Transfer RNA | Sensitivity | Macrophage colony-stimulating factor | Colony-stimulating factor | Diagnostic systems | Mutation | Criteria | Spheroids | Genetic screening | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) | pigmented orthochromatic leukodystrophy (POLD) | colony stimulating factor 1 receptor (CSF1R) | alanyl-transfer (t)RNA synthetase 2 (AARS2) | hereditary diffuse leukoencephalopathy with spheroids (HDLS)
Journal Article
2010, Consultant pathology, ISBN 9781933864648, Volume 1, xv, 358
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