Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Pseudarthrosis and NF1[original query] |
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Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of medical genetics 2015 Apr 52 (4): 256-61. Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Ro |
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients. Orphanet journal of rare diseases 2019 9 14 (1): 221. Zhu Guanghui, Zheng Yu, Liu Yaoxi, Yan An, Hu Zhengmao, Yang Yongjia, Xiang Shiting, Li Liping, Chen Weijian, Peng Yu, Zhong Nanbert, Mei Hai |
NF1 Somatic Mutation in Dystrophic Scoliosis. Journal of molecular neuroscience : MN 2019 2 68 (1): 11-18. Margraf Rebecca L, VanSant-Webb Chad, Mao Rong, Viskochil David H, Carey John, Hanson Heather, D'Astous Jacques, Grossmann Allie, Stevenson David |
[Genetic analysis of two children with sporadic neurofibromatosis type 1 complicated with nephrotic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1349-1353. Liu Zhufeng, Wang Wenhong, Guo Zhen, Zhao Linsheng, Wu Xia, Liu Tao, Han Tingti |
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. Human genetics 2022 1 141 (8): 1371-1383. Zheng Yu, Zhu Guanghui, Liu Yaoxi, Zhao Weihua, Yang Yongjia, Luo Zhenqing, Fu Yuyan, Mei Haibo, Hu Zhengm |
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