263 related articles for article (PubMed ID: 32293802)
1. Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
Liang C; Wang YJ; Wei YX; Dong Y; Zhang ZC
Orthop Surg; 2020 Jun; 12(3):990-996. PubMed ID: 32293802
[TBL] [Abstract][Full Text] [Related]
2. Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.
Long X; Li Z; Huang Y; Zhang L; Lv W; Teng Y; Linpeng S; Liang D; Wu L
Medicine (Baltimore); 2019 May; 98(20):e15692. PubMed ID: 31096510
[TBL] [Abstract][Full Text] [Related]
3. Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z; Al-Rijjal RA; Al-Ghofaili L; BinEssa HA; Pant R; Alrabiah A; Al-Hussainan T; Zou M; Meyer BF; Shi Y
Orphanet J Rare Dis; 2021 Feb; 16(1):100. PubMed ID: 33632255
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.
Yang M; Xie H; Xu B; Xiang Q; Wang H; Hu T; Liu S
J Clin Lab Anal; 2021 Sep; 35(9):e23968. PubMed ID: 34403521
[TBL] [Abstract][Full Text] [Related]
5. Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
Xu Y; Kang Q; Zhang Z
Mol Med Rep; 2017 Oct; 16(4):5599-5605. PubMed ID: 28849184
[TBL] [Abstract][Full Text] [Related]
6. Identification of Novel Mutations in the
Tong Y; Zhang Y; Luo J; Hong Z; Chen X; Bi Q
Genet Test Mol Biomarkers; 2021 Feb; 25(2):145-151. PubMed ID: 33596140
[No Abstract] [Full Text] [Related]
7. 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 SFA
Bone; 2016 Nov; 92():196-200. PubMed ID: 27616605
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16638657
[TBL] [Abstract][Full Text] [Related]
9. Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
Wu Y; Xing X; Xu S; Ma H; Cao L; Wang S; Luo Y
J Orthop Res; 2013 Sep; 31(9):1492-9. PubMed ID: 23629877
[TBL] [Abstract][Full Text] [Related]
10. A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.
Chen Z; Bi Q; Kong M; Chen Y
Genet Test Mol Biomarkers; 2019 Apr; 23(4):251-254. PubMed ID: 29989442
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A; Kim J; Jang JH; Lee C; Lee JE; Cho SY; Jin DK
Ann Hum Genet; 2019 May; 83(3):160-170. PubMed ID: 30730578
[TBL] [Abstract][Full Text] [Related]
12. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
Vanita V; Sperling K; Sandhu HS; Sandhu PS; Singh JR
Genet Test Mol Biomarkers; 2009 Feb; 13(1):43-9. PubMed ID: 19309273
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of hereditary multiple exostoses in the Chinese.
Xu L; Xia J; Jiang H; Zhou J; Li H; Wang D; Pan Q; Long Z; Fan C; Deng HX
Hum Genet; 1999; 105(1-2):45-50. PubMed ID: 10480354
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 9463333
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10429361
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis].
Bai Y; Liu N; Hu S; Wu Q; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):451-455. PubMed ID: 31030431
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 24532482
[TBL] [Abstract][Full Text] [Related]
18. [A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses].
Wang W; Qiu ZQ; Song HM
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Feb; 16(2):174-80. PubMed ID: 24568913
[TBL] [Abstract][Full Text] [Related]
19. Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Ishimaru D; Gotoh M; Takayama S; Kosaki R; Matsumoto Y; Narimatsu H; Sato T; Kimata K; Akiyama H; Shimizu K; Matsumoto K
BMC Genet; 2016 Mar; 17():52. PubMed ID: 26961984
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 18976157
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
