A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]
Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung +3 more
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Clinical Masks of Neurofibromatosis Type 1
Архивъ внутренней медицины, 2022 Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
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Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2 [PDF]
Frontiers in OncologyBackgroundNeurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are autosomal dominant disorders that originate from Schwann cells and are characterized by the development of benign and malignant tumors, respectively.
Erxing Tao +13 more
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MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions [PDF]
Biomarker Research, 2021 MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Anja Harder
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Evaluation of Neurofibromatosis Gene Expression in Non-Hereditary Breast Cancer
Novelty in Biomedicine, 2023 Background: Breast cancer is the most common cause of death in women. Studies have shown that changes in neurofibromatosis gene expression can cause breast cancer.
Mahsa Kavousi +3 more
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Neurofibromatosis type 1: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system.
Min Jeong Kim, Chong Kun Cheon
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NF1 Gene and Neurofibromatosis 1 [PDF]
American Journal of Epidemiology, 2000 Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria.
S A, Rasmussen, J M, Friedman
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A Conserved Circadian Function for the Neurofibromatosis 1 Gene [PDF]
Cell Reports, 2018 Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock. However, the relevant cellular mechanisms are not known.
Bai, Lei +10 more
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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
BMC Pediatrics, 2023 Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla +11 more
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Neuroibromatosis tipo l: relación genotipo-fenotipo
Acta Neurológica Colombiana, 2020 INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López +3 more
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