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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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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Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1? [PDF]
, 2022 Non-pathogenic mismatch repair (MMR) gene variants can be associated with decreased MMR capacity in several settings. Due to an increased mutation rate, reduced MMR capacity leads to accumulation of somatic sequence changes in tumour suppressor genes ...
Harder, Anja
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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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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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Identification of the neurofibromatosis type 1 gene product. [PDF]
Proceedings of the National Academy of Sciences, 1991 The gene for neurofibromatosis type 1 (NF1) was recently identified by positional cloning. The complete cDNA encodes a polypeptide of 2818 amino acids. To study the NF1 gene product, antibodies were raised against both fusion proteins and synthetic peptides.
D H, Gutmann, D L, Wood, F S, Collins
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Disease Models & Mechanisms, 2012 SUMMARY Neurofibromatosis type 1 (NF1) is a common, dominantly inherited genetic disorder that results from mutations in the neurofibromin 1 (NF1) gene.
Jimann Shin +17 more
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Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]
Middle East Journal of Cancer, 2021 With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan +5 more
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