Results 1 to 10 of about 248 (159)
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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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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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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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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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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Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene [PDF]
European Journal of Human Genetics, 2000 Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are
S, Tinschert +6 more
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Cell Death and Disease, 2021 Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the ...
Zhuanli Bai +6 more
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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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