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Results: 1 to 20 of 522

Similar articles for PubMed (Select 18328980)

1.

Hereditary multiple exostoses and enchondromatosis.

Pannier S, Legeai-Mallet L.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. Review.

PMID:
18328980
2.

Multiple osteochondromas.

Bovée JV.

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

3.

[Hereditary multiple exostosis. Case report and differential diagnosis of enchondromatosis].

Cammarata-Scalisi F, Sánchez-Flores R, Stock-Leyton F, Labrador-Chacón N, Cammarata-Scalisi G.

Acta Ortop Mex. 2012 Nov-Dec;26(6):388-92. Spanish.

PMID:
24712208
4.

Ollier disease.

Silve C, Jüppner H.

Orphanet J Rare Dis. 2006 Sep 22;1:37. Review.

5.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ.

Am J Hum Genet. 1998 Feb;62(2):346-54.

6.

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W.

Hum Mutat. 2009 Dec;30(12):1620-7. doi: 10.1002/humu.21123. Review.

PMID:
19810120
7.

Genotype-phenotype correlation in hereditary multiple exostoses.

Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L.

J Med Genet. 2001 Jul;38(7):430-4.

8.

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

Chen WC, Chi CH, Chuang CC, Jou IM.

J Formos Med Assoc. 2006 May;105(5):434-7.

PMID:
16638657
9.

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Kojima H, Wada T, Seki H, Kubota T, Wakui K, Fukushima Y.

Genet Test. 2008 Dec;12(4):557-61. doi: 10.1089/gte.2008.0048.

PMID:
18976157
10.

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W, Van Hul W.

Hum Mutat. 2000;15(3):220-7. Review.

PMID:
10679937
11.

[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family].

Tschernikoff Z, Ditscheva L.

Radiol Diagn (Berl). 1989;30(1):53-6. German.

PMID:
2785276
12.

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.

Am J Hum Genet. 1997 Sep;61(3):520-8.

13.
14.

[From gene to disease; hereditary multiple exostoses].

Wuyts W, Bovée JV, Hogendoorn PC.

Ned Tijdschr Geneeskd. 2002 Jan 26;146(4):162-4. Review. Dutch.

PMID:
11845565
15.

Hereditary multiple exostoses: one center's experience and review of etiology.

Pierz KA, Stieber JR, Kusumi K, Dormans JP.

Clin Orthop Relat Res. 2002 Aug;(401):49-59.

PMID:
12151882
16.

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Pei Y, Wang Y, Huang W, Hu B, Huang D, Zhou Y, Su P.

Genet Test Mol Biomarkers. 2010 Dec;14(6):865-72. doi: 10.1089/gtmb.2010.0040. Epub 2010 Nov 1.

PMID:
21039224
17.

EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.

Stickens D, Brown D, Evans GA.

Dev Dyn. 2000 Jul;218(3):452-64.

18.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

19.

Benign cartilage tumors.

Scarborough MT, Moreau G.

Orthop Clin North Am. 1996 Jul;27(3):583-9.

PMID:
8649739
20.

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
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