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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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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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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Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
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Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]
, 2017 The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression ...
Bush, Erin C +6 more
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Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
Pediatric Hematology Oncology Journal, 2021 JMML is a rare aggressive type of leukaemia seen in children. It is often seen with syndromes such as Noonan, and neurofibromatosis type 1. Rarely it can be a sporadic event.
Harsha Prasada Lashkari +3 more
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Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]
, 2018 Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C +7 more
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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1
Frontiers in Neurology, 2021 Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance.
Wei Wang +7 more
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NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
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Skeletal anomalies in patients with neurofibromatosis type 1
Гений oртопедии, 2022 Introduction Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor syndromes. The average incidence of NF1 in the world is 1:3000 of the population.
Rustam N. Mustafin
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