HuGE Literature Finder
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| Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study. BMC musculoskeletal disorders 2022 May 23 (1): 430. de Azevedo Gustavo Borges Laurindo, Perini Jamila Alessandra, Araújo Junior Antônio Eulálio Pedrosa, Moliterno Luis Antonio Medeiros, Andrande Rodrigo Mantelatto, Guimarães João Antonio Matheus, Defino Helton Luiz Apareci |
| Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
| Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis. Gene 2021 12 814 146126. Liu Bowen, Zhao Sen, Liu Lian, Du Huakang, Zhao Hengqiang, Wang Shengru, Niu Yuchen, Li Xiaoxin, Qiu Guixing, , Wu Zhihong, Zhang Terry Jianguo, Wu N |
| Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3 23 (7): 1296-1304. Arnaud Pauline, Milleron Olivier, Hanna Nadine, Ropers Jacques, Ould Ouali Nadia, Affoune Amel, Langeois Maud, Eliahou Ludivine, Arnoult Florence, Renard Philippe, Michelon-Jouneaux Marlène, Cotillon Marie, Gouya Laurent, Boileau Catherine, Jondeau Guillau |
| Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome. Journal of medical genetics 2021 12 60 (1): 74-80. Taniguchi Yuki, Takeda Norifumi, Inuzuka Ryo, Matsubayashi Yoshitaka, Kato So, Doi Toru, Yagi Hiroki, Yamauchi Haruo, Ando Masahiko, Oshima Yasushi, Tanaka Sak |
| Identification of novel FBN1 variations implicated in congenital scoliosis. Journal of human genetics 2019 12 65 (3): 221-230. Lin Mao, Zhao Sen, Liu Gang, Huang Yingzhao, Yu Chenxi, Zhao Yanxue, Wang Lianlei, Zhang Yuanqiang, Yan Zihui, Wang Shengru, Liu Sen, Liu Jiaqi, Ye Yongyu, Chen Yaping, Yang Xu, Tong Bingdu, Wang Zheng, Yang Xinzhuang, Niu Yuchen, Li Xiaoxin, Wang Yipeng, Su Jianzhong, Yuan Jian, Zhao Hengqiang, Zhang Shuyang, Qiu Guixing, , Ikegawa Shiro, Zhang Jianguo, Wu Zhihong, Wu N |
| New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis. Spine 2018 Jul . Sheng Fei, Xia Chao, Xu Leilei, Qin Xiaodong, Tang Nelson Leung-Sang, Qiu Yong, Cheng Jack Chun-Yiu, Zhu Zezha |
| Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Human molecular genetics 2014 Oct 23 (19): 5271-82. Buchan Jillian G, Alvarado David M, Haller Gabe E, Cruchaga Carlos, Harms Matthew B, Zhang Tianxiao, Willing Marcia C, Grange Dorothy K, Braverman Alan C, Miller Nancy H, Morcuende Jose A, Tang Nelson Leung-Sang, Lam Tsz-Ping, Ng Bobby Kin-Wah, Cheng Jack Chun-Yiu, Dobbs Matthew B, Gurnett Christina |
| Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. The American journal of cardiology 2009 Apr 103 (8): 1146-8. Akutsu Koichi, Morisaki Hiroko, Takeshita Satoshi, Ogino Hitoshi, Higashi Masahiro, Okajima Toshiya, Yoshimuta Tsuyoshi, Tsutsumi Yoshiaki, Nonogi Hiroshi, Morisaki Takayu |
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