Results 131 to 140 of about 81,955,644 (156)

Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1. [PDF]

Endocrinol Diabetes Metab Case Rep
Urbano Ferreira H, Sacramento ML, Gonçalves J, Rios E, Queirós J, Belo S.   +5 more
europepmc   +1 more source

T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future direction. [PDF]

Brain Commun
Done RJ, Ahmid O, Smith MJ, Evans DG, Pathmanaban ON, Brough D, Couper KN.   +6 more
europepmc   +1 more source

Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders. [PDF]

Orphanet J Rare Dis
Peng C, Ren J, Zhou F, Chen H, Yang H, Li Y, Keqie Y, Zhao X, Liu Z, Hu T, Zhang X, Ding T, Yang J, Luo S, Fan W, Chen X, Liu S.   +16 more
europepmc   +1 more source

Metabolic Alterations in Macrophage Subtypes Propel Immune and Stromal Remodeling in Neurofibroma's Malignant Progression. [PDF]

MedComm (2020)
Ge LL, Li YH, Yu X, Xing MY, Gu YH, Wang W, Huang JX, Liu J, Zhang HB, Wei CJ, Wang ZC, Li QF.   +11 more
europepmc   +1 more source

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach [PDF]

Genes, 2019
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes ...
Clévia Rosset, Patricia Ashton-Prolla, Andreia Carina Turchetto Zolet   +2 more
exaly   +2 more sources

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Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes

Human Mutation, 2021
Miriam Smith, Gareth Evans, Cristina Pérez-Becerril   +2 more
exaly  

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

Frontiers in Neurology, 2021
Qingfeng Li, Zhichao Wang, Yue-Hua Li
exaly  

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

International Journal of Molecular Sciences, 2021
Ryota Tamura
exaly