Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Syndrome and LZTR1[original query] |
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| Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. BMC medical genetics 2011 Dec 12 (1): 1. Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K |
| 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 |
| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Human genetics 2018 10 138 (1): 21-35. Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo |
| Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clinical genetics 2019 6 96 (4): 290-299. Li Xin, Yao Ruen, Tan Xin, Li Niu, Ding Yu, Li Juan, Chang Guoying, Chen Yao, Ma Lizhuang, Wang Jian, Fu Lijun, Wang Xium |
| Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Clinical genetics 2019 3 95 (6): 693-703. Pagnamenta Alistair T, Kaisaki Pamela J, Bennett Fenella, Burkitt-Wright Emma, Martin Hilary C, Ferla Matteo P, Taylor John M, Gompertz Lianne, Lahiri Nayana, Tatton-Brown Katrina, Newbury-Ecob Ruth, Henderson Alex, Joss Shelagh, Weber Astrid, Carmichael Jenny, Turnpenny Peter D, McKee Shane, Forzano Francesca, Ashraf Tazeen, Bradbury Kimberley, Shears Deborah, Kini Usha, de Burca Anna, , Blair Edward, Taylor Jenny C, Stewart Hel |
| 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 |
| Providing more evidence on LZTR1 variants in Noonan syndrome patients. American journal of medical genetics. Part A 2019 Dec . Chinton Josefina, Huckstadt Victoria, Mucciolo Mafalda, Lepri Francesca, Novelli Antonio, Gravina Luis Pablo, Obregon María Gabrie |
| Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control. PLoS genetics 2020 4 16 (4): e1008727. Maurer Gianna W, Malita Alina, Nagy Stanislav, Koyama Takashi, Werge Thomas M, Halberg Kenneth A, Texada Michael J, Rewitz K |
| Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics 2020 10 184 (4): 896-911. Bertola Débora R, Castro Matheus A A, Yamamoto Guilherme L, Honjo Rachel S, Ceroni José Ricardo, Buscarilli Michele M, Freitas Amanda B, Malaquias Alexsandra C, Pereira Alexandre C, Jorge Alexander A L, Passos-Bueno Maria Rita, Kim Chong |
| 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 |
| RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
| 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 |
| LZTR1 mutation mediates oncogenesis through stabilization of EGFR and AXL. Cancer discovery 2022 11 . Ko Aram, Hasanain Mohammad, Oh Young Taek, D'Angelo Fulvio, Sommer Danika, Frangaj Brulinda, Tran Suzanne, Bielle Franck, Pollo Bianca, Paterra Rosina, Mokhtari Karima, Soni Rajesh Kumar, Peyre Matthieu, Eoli Marica, Papi Laura, Kalamarides Michel, Sanson Marc, Iavarone Antonio, Lasorella An |
| Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
| Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
- Page last reviewed:Feb 1, 2024
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