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Connective Tissue Research Volume 55, 2014 - Issue 2
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Proceedings

Multiple hereditary exostoses (MHE): elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research

Kevin B. JonesDepartment of Orthopaedics and Center for Children’s Cancer Research, Huntsman Cancer Institute, University of Utah School of Medicine Salt Lake City, UTUSA
,
Maurizio PacificiDivision of Orthopaedic Surgery, The Children’s Hospital of Philadelphia Philadelphia, PAUSA
&
Matthew J. HiltonDepartment of Orthopaedics and Rehabilitation, The Center for Musculoskeletal Research, University of Rochester Medical Center, The Center for Musculoskeletal Research Rochester, NYUSACorrespondence[email protected]
Pages 80-88 | Received 09 Oct 2013, Accepted 15 Nov 2013, Published online: 12 Feb 2014

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Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli & Rodolfo Capanna. (2019) Hereditary Multiple Exostoses: Current Insights. Orthopedic Research and Reviews 11, pages 199-211.
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Paul C. Billings & Maurizio Pacifici. (2015) Interactions of signaling proteins, growth factors and other proteins with heparan sulfate: mechanisms and mysteries. Connective Tissue Research 56:4, pages 272-280.
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Articles from other publishers (16)

Yuanyuan Wang, Jiangdong Ren, Guojin Hou & Xianpeng Ge. (2023) NFATC1 and NFATC2 expression patterns in human osteochondromas. Heliyon 9:1, pages e13018.
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Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska & Aleksander Jamsheer. (2021) Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies. Frontiers in Genetics 12.
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Xiaoyan GuoShunyou ChenMingrui LinYuancheng PanNannan LiuTengfei Shi. (2021) A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma . Genetic Testing and Molecular Biomarkers 25:7, pages 478-485.
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Yu TongYin ZhangJunchao LuoZheping HongXinji ChenQing Bi. (2021) Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas . Genetic Testing and Molecular Biomarkers 25:2, pages 145-151.
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Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi & Gianluca Tornese. (2020) An unusual diagnosis for an usual test. Italian Journal of Pediatrics 46:1.
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Natalie Holmes, Siddharth Virani & Jaikumar Relwani. (2020) Use of reverse stemless shoulder arthroplasty in a patient with multiple hereditary exostosis. Journal of Clinical Orthopaedics and Trauma 11, pages S752-S755.
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Yücel Ağırdil. (2020) The growth plate: a physiologic overview. EFORT Open Reviews 5:8, pages 498-507.
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Mandy L. Ballinger, Mark Pinese & David M. Thomas. (2019) Translating genomic risk into an early detection strategy for sarcoma. Genes, Chromosomes and Cancer 58:2, pages 130-136.
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Zhonghua Chen, Qing Bi, Mingxiang Kong, Li Cao & Weiwei Ruan. (2018) A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas. Oncology Letters.
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Savana C. L. Santos, Isabela M. P. O. Rizzo, Reinaldo I. Takata, Carlos E. Speck-Martins, Jaime M. Brum & Claudio Sollaci. (2018) Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas . Molecular Genetics & Genomic Medicine 6:3, pages 382-392.
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Brendan F. Boyce, Michael J. Zuscik & Lianping Xing. 2018. Genetics of Bone Biology and Skeletal Disease. Genetics of Bone Biology and Skeletal Disease 173 195 .
Elizabeth Hull, McKale Montgomery & Kathryn Leyva. (2017) Epigenetic Regulation of the Biosynthesis & Enzymatic Modification of Heparan Sulfate Proteoglycans: Implications for Tumorigenesis and Cancer Biomarkers. International Journal of Molecular Sciences 18:7, pages 1361.
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Guolin Hong, Xiaoyan Guo, Wei Yan, Qianqian Li, Hailing Zhao, Ping Ma & Xiao Hu. (2016) Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing. Molecular Medicine Reports.
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Xianpeng Ge, Kelly Tsang, Lizhi He, Roberto A. Garcia, Joerg Ermann, Fumitaka Mizoguchi, Minjie Zhang, Bin Zhou, Bin Zhou & Antonios O. Aliprantis. (2016) NFAT restricts osteochondroma formation from entheseal progenitors. JCI Insight 1:4.
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David M. Thomas & Mandy L. Ballinger. 2016. Rare Hereditary Cancers. Rare Hereditary Cancers 169 189 .
Siru Zhou, Yangli Xie, Junzhou Tang, Junlan Huang, Qizhao Huang, Wei Xu, Zuqiang Wang, Fengtao Luo, Quan Wang, Hangang Chen, Xiaolan Du, Yue Shen, Di Chen & Lin Chen. (2015) FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling. PLOS Genetics 11:6, pages e1005214.
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