255 related articles for article (PubMed ID: 27748933)
1. Novel mutation of EXT2 identified in a large family with multiple osteochondromas.
Chen XJ; Zhang H; Tan ZP; Hu W; Yang YF
Mol Med Rep; 2016 Nov; 14(5):4687-4691. PubMed ID: 27748933
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.
Yang L; Hui WS; Chan WC; Ng VC; Yam TH; Leung HC; Huang JD; Shum DK; Jie Q; Cheung KM; Cheah KS; Luo Z; Chan D
J Orthop Res; 2010 Nov; 28(11):1522-30. PubMed ID: 20872591
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
Tian C; Yan R; Wen S; Li X; Li T; Cai Z; Li X; Du H; Chen H
PLoS One; 2014; 9(4):e94848. PubMed ID: 24728384
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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. PubMed ID: 18373409
[TBL] [Abstract][Full Text] [Related]
9. Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Guo X; Lin M; Shi T; Yan W; Chen W
Tohoku J Exp Med; 2017 Jul; 242(3):173-181. PubMed ID: 28690282
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 24120389
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].
Li L; Li X; Liu Y; Zheng S; Zhang J; Liu Q; Heng X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):743-6. PubMed ID: 25449079
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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; 515(2):339-48. PubMed ID: 23262345
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W; Radersma R; Storm K; Vits L
Clin Genet; 2005 Dec; 68(6):542-7. PubMed ID: 16283885
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C; Nardella G; Fischetto R; Copetti M; Petracca A; Annunziata F; Augello B; D'Asdia MC; Petrucci S; Mattina T; Rella A; Cassina M; Bengala M; Biagini T; Causio FA; Caldarini C; Brancati F; De Luca A; Guarnieri V; Micale L; D'Agruma L; Castori M
Hum Mol Genet; 2019 Jul; 28(13):2133-2142. PubMed ID: 30806661
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
