Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1631
Abstract: BACKGROUND Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the… read more here.
Keywords: nf1 gene; mutational spectrum; spectrum nf1; pathology ... See more keywords
The effect of parental age on NF1 patients in Turkey
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Community Genetics"
DOI: 10.1007/s12687-017-0346-0
Abstract: Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which… read more here.
Keywords: effect parental; parental age; age; paternal age ... See more keywords
EXTH-08. MINIPIG MODELS OF NEUROFIBROMATOSIS TYPE 1 FOR THERAPEUTIC DEVELOPMENT
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-oncology"
DOI: 10.1093/neuonc/noaa215.362
Abstract: Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development. Many NF1 animal… read more here.
Keywords: exth minipig; minipig; mek inhibitors; neurofibromatosis type ... See more keywords
Age-dependent oral manifestations of neurofibromatosis type 1: a case–control study
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02223-x
Abstract: Introduction Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patients without tumors in the oral cavity.… read more here.
Keywords: neurofibromatosis type; age; manifestations neurofibromatosis; nf1 patients ... See more keywords
Image-Based Differentiation of Benign and Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.898971
Abstract: Neurofibromatosis type 1 (NF1) is a dominant hereditary disease characterized by the mutation of the NF1 gene, affecting 1/3000 individuals worldwide. Most NF1 patients are predisposed to benign peripheral nerve sheath tumors (PNSTs), including cutaneous… read more here.
Keywords: nerve sheath; sheath tumors; peripheral nerve; benign malignant ... See more keywords