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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and LZTR1[original query]
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Neurology 2015 Jan 84 (2): 141-7.
Smith Miriam J, Isidor Bertand, Beetz Christian, Williams Simon G, Bhaskar Sanjeev S, Richer Wilfrid, O'Sullivan James, Anderson Beverly, Daly Sarah B, Urquhart Jill E, Fryer Alan, Rustad Cecilie F, Mills Samantha J, Samii Amir, du Plessis Daniel, Halliday Dorothy, Barbarot Sebastien, Bourdeaut Franck, Newman William G, Evans D Gare
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Neurology 2016 Nov .
Smith Miriam J, Bowers Naomi L, Bulman Michael, Gokhale Carolyn, Wallace Andrew J, King Andrew T, Lloyd Simon K L, Rutherford Scott A, Hammerbeck-Ward Charlotte L, Freeman Simon R, Evans D Gare
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
JAMA neurology 2017 8 74 (9): 1123-1129.
Pathmanaban Omar N, Sadler Katherine V, Kamaly-Asl Ian D, King Andrew T, Rutherford Scott A, Hammerbeck-Ward Charlotte, McCabe Martin G, Kilday John-Paul, Beetz Christian, Poplawski Nicola K, Evans D Gareth, Smith Miriam
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Orphanet journal of rare diseases 2019 2 14 (1): 29.
Chen Hao, Li Xin, Liu Xiaoliang, Wang Jian, Zhang Zhen, Wu Jinjin, Huang Meirong, Guo Ying, Li Fen, Wang Xiumin, Fu Lij
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 Mar .
Stefekova Andrea, Capkova Pavlina, Capkova Zuzana, Curtisova Vaclava, Srovnal Josef, Mracka Enkhjargalan, Klaskova Eva, Prochazka Mart
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
Human mutation 2022 4 43 (7): 919-927.
Deng Fanxuan, Evans D Gareth, Smith Miriam
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
JAMA network open 2022 Dec 5 (12): e2245836.
Liu Ze-Xian, Zhang Xiao-Long, Zhao Qi, Chen Yungchang, Sheng Hui, He Cai-Yun, Sun Yu-Ting, Lai Ming-Yu, Wu Min-Qing, Zuo Zhi-Xiang, Wang Wei, Zhou Zhi-Wei, Wang Feng-Hua, Li Yu-Hong, Xu Rui-Hua, Qiu Miao-Zh
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