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Items: 1 to 20 of 231

1.

Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender.

Clement ND, Porter DE.

Scott Med J. 2014 Feb;59(1):35-44. doi: 10.1177/0036933013518150. Epub 2014 Jan 10.

PMID:
24413927
2.

Clinical outcome and genotype in patients with hereditary multiple exostoses.

Jäger M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, Gossheger G, Krauspe R.

J Orthop Res. 2007 Dec;25(12):1541-51.

3.

Shoulder exostoses in hereditary multiple exostoses: probability of surgery and malignant change.

Clement ND, Ng CE, Porter DE.

J Shoulder Elbow Surg. 2011 Mar;20(2):290-4. doi: 10.1016/j.jse.2010.07.020. Epub 2010 Nov 24.

PMID:
21106401
4.

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.

Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH.

J Bone Joint Surg Br. 2004 Sep;86(7):1041-6.

PMID:
15446535
5.

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

Li Y, Wang J, Wang Z, Tang J, Yu T.

BMC Med Genet. 2017 Nov 10;18(1):126. doi: 10.1186/s12881-017-0488-2.

6.

Evaluation of the anatomic burden of patients with hereditary multiple exostoses.

Alvarez CM, De Vera MA, Heslip TR, Casey B.

Clin Orthop Relat Res. 2007 Sep;462:73-9.

PMID:
17589361
7.

[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].

Zhou YA, Ma YX, Zhang YH, Hao ZQ, Li XJ, Shi YY, Zhang QB, Li PL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):95-8. doi: 10.3760/cma.j.issn.1003-9406.2013.01.023. Chinese.

PMID:
23450490
8.

[Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses].

Deng LB, Quan Y, Liu J, Lin Peng SY, Liang DS, Wu LQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):641-4. doi: 10.3760/cma.j.issn.1003-9406.2013.06.001. Chinese.

PMID:
24327137
9.

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.

10.

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

Leube B, Hardt K, Portier S, Westhoff B, Jäger M, Krauspe R, Royer-Pokora B.

Genet Test. 2008 Mar;12(1):129-33. doi: 10.1089/gte.2007.0070.

PMID:
18373409
11.

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Medek K, Zeman J, Honzík T, Hansíková H, Švecová Š, Beránková K, Kučerová Vidrová V, Kuklík M, Chomiak J, Tesařová M.

Prague Med Rep. 2017;118(2-3):87-94. doi: 10.14712/23362936.2017.8.

12.

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L.

Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20.

PMID:
23262345
13.

Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Park KJ, Shin KH, Ku JL, Cho TJ, Lee SH, Choi IH, Phillipe C, Monaco AP, Porter DE, Park JG.

J Hum Genet. 1999;44(4):230-4.

PMID:
10429361
14.

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.

15.

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.

Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L.

J Bone Joint Surg Am. 2011 Dec 21;93(24):2294-302. doi: 10.2106/JBJS.J.00949.

PMID:
22258776
16.

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.

17.

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y.

Am J Med Genet. 2001 Feb 15;99(1):59-62.

PMID:
11170095
18.

[The EXT2 gene mutation in a family with hereditary multiple exostoses].

Yao F, Wang Y, Liao S, Wang L, Wang T, Kang B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):92-5. doi: 10.3760/cma.j.issn.1003-9406.2010.01.020. Chinese.

PMID:
20140877
19.

Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.

Foroughmand AM, Galehdari H, Rasouli M, Mohammadian G, Mohammadi M.

Pak J Biol Sci. 2008 Apr 1;11(7):1037-41.

PMID:
18810975
20.

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

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