Hogendoorn PC - Search Results

1

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Vink GR, et al. Among authors: hogendoorn pc. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

2

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. Bovée JV, et al. Among authors: hogendoorn pc. Am J Hum Genet. 1999 Sep;65(3):689-98. doi: 10.1086/302532. Am J Hum Genet. 1999. PMID: 10441575 Free PMC article.

3

Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses.

Bovée JV, Sakkers RJ, Geirnaerdt MJ, Taminiau AH, Hogendoorn PC. Bovée JV, et al. Among authors: hogendoorn pc. J Clin Pathol. 2002 Mar;55(3):226-9. doi: 10.1136/jcp.55.3.226. J Clin Pathol. 2002. PMID: 11896078 Free PMC article.

4

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovée JV. Rozeman LB, et al. Among authors: hogendoorn pc. Hum Mutat. 2004 Dec;24(6):466-73. doi: 10.1002/humu.20095. Hum Mutat. 2004. PMID: 15523647

5

Bifurcation of the femur with tibial agenesis and additional anomalies.

van de Kamp JM, van der Smagt JJ, Bos CF, van Haeringen A, Hogendoorn PC, Breuning MH. van de Kamp JM, et al. Among authors: hogendoorn pc. Am J Med Genet A. 2005 Sep 15;138(1):45-50. doi: 10.1002/ajmg.a.30918. Am J Med Genet A. 2005. PMID: 16100723 Review.

6

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. Hameetman L, et al. Among authors: hogendoorn pc. J Pathol. 2007 Mar;211(4):399-409. doi: 10.1002/path.2127. J Pathol. 2007. PMID: 17226760

7

The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions.

Hameetman L, Szuhai K, Yavas A, Knijnenburg J, van Duin M, van Dekken H, Taminiau AH, Cleton-Jansen AM, Bovée JV, Hogendoorn PC. Hameetman L, et al. Among authors: hogendoorn pc. J Natl Cancer Inst. 2007 Mar 7;99(5):396-406. doi: 10.1093/jnci/djk067. J Natl Cancer Inst. 2007. PMID: 17341731

8

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. Reijnders CM, et al. Among authors: hogendoorn pc. Am J Pathol. 2010 Oct;177(4):1946-57. doi: 10.2353/ajpath.2010.100296. Epub 2010 Sep 2. Am J Pathol. 2010. PMID: 20813973 Free PMC article.

9

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.

Szuhai K, Jennes I, de Jong D, Bovée JV, Wiweger M, Wuyts W, Hogendoorn PC. Szuhai K, et al. Among authors: hogendoorn pc. Hum Mutat. 2011 Feb;32(2):E2036-49. doi: 10.1002/humu.21423. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280143

10

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. Jennes I, et al. Among authors: hogendoorn pc. BMC Med Genet. 2011 Jun 26;12:85. doi: 10.1186/1471-2350-12-85. BMC Med Genet. 2011. PMID: 21703028 Free PMC article.

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