TY - JOUR AU - Akita, S. AU - Murase, T. AU - Yonenobu, K. AU - Shimada, K. AU - Masada, K. AU - Yoshikawa, H. PY - 2007 DA - 2007// TI - Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses JO - J. Bone Joint Surg. Am. VL - 89 UR - https://doi.org/10.2106/JBJS.F.01336 DO - 10.2106/JBJS.F.01336 ID - Akita2007 ER - TY - JOUR AU - Matsumoto, Y. AU - Matsumoto, K. AU - Harimaya, K. AU - Okada, S. AU - Doi, T. AU - Iwamoto, Y. PY - 2015 DA - 2015// TI - Scoliosis in patients with multiple hereditary exostoses JO - Eur Spine J VL - 24 UR - https://doi.org/10.1007/s00586-015-3883-4 DO - 10.1007/s00586-015-3883-4 ID - Matsumoto2015 ER - TY - JOUR AU - Matsumoto, K. AU - Irie, F. AU - Mackem, S. AU - Yamaguchi, Y. PY - 2010 DA - 2010// TI - A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses JO - Proc Natl Acad Sci U S A VL - 107 UR - https://doi.org/10.1073/pnas.0914642107 DO - 10.1073/pnas.0914642107 ID - Matsumoto2010 ER - TY - JOUR AU - Schmale, G. A. AU - Conrad, E. U. AU - Raskind, W. H. PY - 1994 DA - 1994// TI - The natural history of hereditary multiple exostoses JO - J. Bone Joint Surg. Am. VL - 76 ID - Schmale1994 ER - TY - JOUR AU - Bovee, J. V. PY - 2008 DA - 2008// TI - Multiple osteochondromas JO - Orphanet J. Rare Dis. VL - 3 UR - https://doi.org/10.1186/1750-1172-3-3 DO - 10.1186/1750-1172-3-3 ID - Bovee2008 ER - TY - JOUR AU - Czajka, C. M. AU - DiCaprio, M. R. PY - 2015 DA - 2015// TI - What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration? JO - Clin Orthop Relat Res VL - 473 UR - https://doi.org/10.1007/s11999-015-4134-z DO - 10.1007/s11999-015-4134-z ID - Czajka2015 ER - TY - JOUR AU - Goud, A. L. AU - Lange, J. AU - Scholtes, V. A. AU - Bulstra, S. K. AU - Ham, S. J. PY - 2012 DA - 2012// TI - Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study JO - J. Bone Joint Surg. Am. VL - 94 UR - https://doi.org/10.2106/JBJS.K.00406 DO - 10.2106/JBJS.K.00406 ID - Goud2012 ER - TY - JOUR AU - Legeai-Mallet, L. AU - Munnich, A. AU - Maroteaux, P. AU - Merrer, M. PY - 1997 DA - 1997// TI - Incomplete penetrance and expressivity skewing in hereditary multiple exostoses JO - Clin Genet VL - 52 UR - https://doi.org/10.1111/j.1399-0004.1997.tb02508.x DO - 10.1111/j.1399-0004.1997.tb02508.x ID - Legeai-Mallet1997 ER - TY - JOUR AU - Pedrini, E. AU - Jennes, I. AU - Tremosini, M. AU - Milanesi, A. AU - Mordenti, M. AU - Parra, A. PY - 2011 DA - 2011// TI - Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of “protective” and “risk” factors JO - J. Bone Joint Surg. Am. VL - 93 UR - https://doi.org/10.2106/JBJS.J.00949 DO - 10.2106/JBJS.J.00949 ID - Pedrini2011 ER - TY - STD TI - Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995;11(2):137–43. ID - ref10 ER - TY - STD TI - Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet. 1996;14(1):25–32. ID - ref11 ER - TY - STD TI - Ludecke HJ, Ahn J, Lin X, Hill A, Wagner MJ, Schomburg L, Horsthemke B, Wells DE. Genomic organization and promoter structure of the human EXT1 gene. Genomics. 1997;40(2):351–4. ID - ref12 ER - TY - JOUR AU - Clines, G. A. AU - Ashley, J. A. AU - Shah, S. AU - Lovett, M. PY - 1997 DA - 1997// TI - The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans JO - Genome Res VL - 7 ID - Clines1997 ER - TY - STD TI - Sarrion P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, et al. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep. 2013;3:1346. ID - ref14 ER - TY - JOUR AU - Jamsheer, A. AU - Socha, M. AU - Sowinska-Seidler, A. AU - Telega, K. AU - Trzeciak, T. AU - Latos-Bielenska, A. PY - 2014 DA - 2014// TI - Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses JO - J Appl Genet VL - 55 UR - https://doi.org/10.1007/s13353-014-0195-z DO - 10.1007/s13353-014-0195-z ID - Jamsheer2014 ER - TY - STD TI - Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y. Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet. 2001;99(1):59–62. ID - ref16 ER - TY - STD TI - Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX. Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999;105(1-2):45–50. ID - ref17 ER - TY - STD TI - Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat. 2009;30(12):1620–7. ID - ref18 ER - TY - STD TI - Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, et al. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer. 2007;46(5):470–7. ID - ref19 ER - TY - JOUR AU - Jennes, I. AU - Entius, M. M. AU - Hul, E. AU - Parra, A. AU - Sangiorgi, L. AU - Wuyts, W. PY - 2008 DA - 2008// TI - 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 JO - J. Mol. Diagn. VL - 10 UR - https://doi.org/10.2353/jmoldx.2008.070086 DO - 10.2353/jmoldx.2008.070086 ID - Jennes2008 ER - TY - STD TI - Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics. 1998;47(2):230–7. ID - ref21 ER - TY - STD TI - Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ. Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet. 1997;5(6):382–9. ID - ref22 ER - TY - JOUR AU - Wise, C. A. AU - Clines, G. A. AU - Massa, H. AU - Trask, B. J. AU - Lovett, M. PY - 1997 DA - 1997// TI - Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family JO - Genome Res VL - 7 UR - https://doi.org/10.1101/gr.7.1.10 DO - 10.1101/gr.7.1.10 ID - Wise1997 ER - TY - JOUR AU - Wuyts, W. AU - Hul, W. PY - 2000 DA - 2000// TI - Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes JO - Hum Mutat VL - 15 UR - https://doi.org/3.0.CO;2-K DO - 3.0.CO;2-K ID - Wuyts2000 ER -