Results 11 to 20 of about 30,899,307 (191)
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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Mouse Models of Neurofibromatosis 1 and 2 [PDF]
Neoplasia: An International Journal for Oncology Research, 2002 The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
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Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report
European Journal of Breast Health, 2017 Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun +3 more
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Neurofibromatosis segmentaria, a propósito de un caso
, 2022 Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David +5 more
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Neurofibromatosis type 1 (NF1) [PDF]
, 1997 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Huret, JL
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Neurofibromatosis type 1 (NF1) [PDF]
, 2006 Review on Neurofibromatosis type 1 (NF1), with data on clinics, and the genes ...
Wimmer, K
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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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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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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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