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
doaj +1 more source
, 2020 Neurofibromatosis, one of the most common genetic disorders, is a group of three conditions—Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis—that share some clinical features, such as the presence of cranial and spinal nerve sheet tumors ...
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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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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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Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families
, 2021 Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that results in a predisposition to the growth of multiple tumors in the central nervous system, the peripheral nervous system, and the skin.
Sharifi, Shahrashoub +10 more
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Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1
Frontiers in Genetics, 2020 IntroductionIn this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case reportA 62-year-old female NF1 patient presented
Cleandra Gregório +13 more
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Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors. [PDF]
PLoS ONE, 2017 Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients.
Marta Martínez +3 more
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The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene [PDF]
Genomics, 1992 Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic disorder neurofibromatosis 1 (NF1). The pleomorphic cutaneous lesions of NF1 and the precedent for other genes being embedded within the NF1 gene prompted us to ...
Kayes, Lucille M. +6 more
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Neurofibromatosis type 2 (NF2) [PDF]
, 2001 Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
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Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1 [PDF]
, 2018 Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 ...
70335975 +19 more
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