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Items: 1 to 20 of 101

1.

Toward an understanding of the short bone phenotype associated with multiple osteochondromas.

Jones KB, Datar M, Ravichandran S, Jin H, Jurrus E, Whitaker R, Capecchi MR.

J Orthop Res. 2013 Apr;31(4):651-7. doi: 10.1002/jor.22280. Epub 2012 Nov 28.

2.

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.

Matsumoto K, Irie F, Mackem S, Yamaguchi Y.

Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7. doi: 10.1073/pnas.0914642107. Epub 2010 Jun 1.

3.

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.

4.

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, Stringer SE, Bovée JV.

Am J Pathol. 2010 Oct;177(4):1946-57. doi: 10.2353/ajpath.2010.100296. Epub 2010 Sep 2.

5.

HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.

Wiweger MI, Zhao Z, van Merkesteyn RJ, Roehl HH, Hogendoorn PC.

PLoS One. 2012;7(1):e29734. doi: 10.1371/journal.pone.0029734. Epub 2012 Jan 11.

6.

The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses.

Trebicz-Geffen M, Nevo Z, Evron Z, Posternak N, Glaser T, Fridkin M, Kollander Y, Robinson D.

Exp Mol Pathol. 2003 Feb;74(1):40-8.

PMID:
12645631
7.

Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones.

Zak BM, Schuksz M, Koyama E, Mundy C, Wells DE, Yamaguchi Y, Pacifici M, Esko JD.

Bone. 2011 May 1;48(5):979-87. doi: 10.1016/j.bone.2011.02.001. Epub 2011 Feb 15.

8.
9.

Multiple osteochondromas.

Bovée JV.

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

10.

Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.

Hameetman L, David G, Yavas A, White SJ, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovée JV.

J Pathol. 2007 Mar;211(4):399-409.

PMID:
17226760
11.

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.

12.

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG.

Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407.

13.

Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.

Kang QL, Xu J, Zhang Z, He JW, Fu WZ, Zhang ZL.

Arch Med Res. 2013 Oct;44(7):542-8. doi: 10.1016/j.arcmed.2013.09.008. Epub 2013 Oct 10.

PMID:
24120389
14.

Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT.

de Andrea CE, Reijnders CM, Kroon HM, de Jong D, Hogendoorn PC, Szuhai K, Bovée JV.

Oncogene. 2012 Mar 1;31(9):1095-104. doi: 10.1038/onc.2011.311. Epub 2011 Aug 1.

PMID:
21804604
15.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W.

BMC Med Genet. 2011 Jun 26;12:85. doi: 10.1186/1471-2350-12-85.

16.

Cell cycle deregulation and mosaic loss of Ext1 drive peripheral chondrosarcomagenesis in the mouse and reveal an intrinsic cilia deficiency.

de Andrea CE, Zhu JF, Jin H, Bovée JV, Jones KB.

J Pathol. 2015 Jun;236(2):210-8. doi: 10.1002/path.4510. Epub 2015 Mar 3.

17.

EXTra hit for mouse osteochondroma.

Bovée JV.

Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):1813-4. doi: 10.1073/pnas.0914431107. No abstract available.

18.

Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones.

Glick R, Khaldi L, Ptaszynski K, Steiner GC.

Hum Pathol. 2007 Aug;38(8):1265-72. Epub 2007 May 8.

PMID:
17490719
19.

Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.

Kang Z, Peng F, Ling T.

Gene. 2012 Sep 15;506(2):298-300. doi: 10.1016/j.gene.2012.07.006. Epub 2012 Jul 20.

PMID:
22820392
20.

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.

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