Mutation analysis of hereditary multiple exostoses in the Chinese

Keywords

Biology, Genetics, Frameshift mutation, Hereditary multiple exostoses, Missense mutation

References

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Cited by

• Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.Qinglin Kang, Jia Xu, Zeng Zhang — 2013
• A Novel Mutation in the EXT2 Gene Identified in Two Unrelated Chinese Families with Hereditary Multiple ExostosesShi Guo Liu, Fei Feng Li, Shang Zhi Huang — 2007
• A Novel Mutation in EXT2 Gene in a Chinese Family with Hereditary Multiple ExostosesShi Guo Liu, De Guo Lu, Zhong Qiang Liu — 2008
• Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.Ivy Jennes, Mark M. Entius, Els Van Hul — 2008
• One Third of Japanese Patients with Multiple Osteochondromas May Have Mutations in Genes Other Than EXT1 or EXT2Hirofumi Kojima, Takahito Wada, Hiroshi Seki — 2008
• Pathogenic Gene Screening and Mutation Detection in a Chinese Family with Multiple OsteochondromaXue Wang, Lin Li, Jiangxia Li — 2012
• Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma.Takashi Tsuchiya, Toshihisa Osanai, Akira Ogose — 2005
• Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromasElena Pedrini, Alessandro De Luca, Enza Maria Valente — 2005
• A Novel Mutation in the EXT1 Gene Identified in a Han Chinese Kindred with Hereditary Multiple ExostosisWen Wen, Yang Zhang, Yingbo Wang — 2010
• Clinical outcome and genotype in patients with hereditary multiple exostosesMarkus Jäger, Bettina Westhoff, Sebastian Portier — 2007
• A splice‐site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromasYang Liu, Wing Sum Hui, Wilson Cheuk Wing Chan — 2010
• Mutation Screening of the EXT Genes in Patients with Hereditary Multiple Exostoses in TaiwanYi-Ru Shi, Jer-Yuarn Wu, Yu-An Hsu — 2002
• Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis.Catherine Rhoades Hall, William G. Cole, Richard Haynes — 2002
• Genotype-phenotype correlation in hereditary multiple exostosesChristine Francannet, A Cohen-Tanugi, M Le Merrer — 2001
• The genotype–phenotype correlation of hereditary multiple exostosesChristine M. Alvarez, Stephen J. Tredwell, Mary A. De Vera — 2006
• Clinical characteristics of hereditary multiple exostoses: A retrospective study of mainland chinese cases in recent 23 yearsXueling Guo, Yan Deng, Huiguo Liu — 2014
• Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromasSavana Camilla Santos, Isabela M. P. O. Rizzo, Reinaldo Issao Takata — 2018
• Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrumAram Yang, Jinsup Kim, Ja‐Hyun Jang — 2019
• Zebrafish endochondral growth zones as they relate to human bone size, shape and diseasePierre Le Pabic, Daniel B. Dranow, Diego J. Hoyle — 2022
• Retinoic acid signaling suppresses chondrocyte identity during cartilage development and regenerationClaire Arata, Sandeep Paul, Simone Schindler — 2024

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