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Items: 13

1.

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Meng GY, Houshmand M.

Ther Clin Risk Manag. 2016 Dec 20;13:15-19. doi: 10.2147/TCRM.S111717. eCollection 2017.

2.

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.

Chen XJ, Zhang H, Tan ZP, Hu W, Yang YF.

Mol Med Rep. 2016 Nov;14(5):4687-4691. doi: 10.3892/mmr.2016.5814. Epub 2016 Oct 6.

3.

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL, Arkader A, Voight BF, Pacifici M, Grant SF.

Bone. 2016 Nov;92:196-200. doi: 10.1016/j.bone.2016.09.005. Epub 2016 Sep 9.

PMID:
27616605
4.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A, Socha M, Sowińska-Seidler A, Telega K, Trzeciak T, Latos-Bieleńska A.

J Appl Genet. 2014 May;55(2):183-8. doi: 10.1007/s13353-014-0195-z. Epub 2014 Feb 15.

5.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D.

Sci Rep. 2013;3:1346. doi: 10.1038/srep01346.

6.

Malignant progression in two children with multiple osteochondromas.

Schmale GA, Hawkins DS, Rutledge J, Conrad EU.

Sarcoma. 2010;2010:417105. doi: 10.1155/2010/417105. Epub 2010 May 9.

7.

Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Hameetman L, Bovée JV, Taminiau AH, Kroon HM, Hogendoorn PC.

Hered Cancer Clin Pract. 2004 Nov 15;2(4):161-73. doi: 10.1186/1897-4287-2-4-161.

8.

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC.

Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9. doi: 10.1073/pnas.0910875107. Epub 2009 Dec 22.

9.

Multiple osteochondromas.

Bovée JV.

Orphanet J Rare Dis. 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. Review.

11.

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G.

Am J Hum Genet. 2001 Jul;69(1):55-66. Epub 2001 Jun 5.

12.
13.

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC.

Am J Hum Genet. 1999 Sep;65(3):689-98.

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