264 related articles for article (PubMed ID: 24568913)
1. [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]
2. [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]
3. 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]
4. 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]
5. Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.
Cao L; Liu F; Kong M; Fang Y; Gu H; Chen Y; Zhao C; Zhang S; Bi Q
Oncol Rep; 2014 Feb; 31(2):713-8. PubMed ID: 24297320
[TBL] [Abstract][Full Text] [Related]
6. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Pedrini E; De Luca A; Valente EM; Maini V; Capponcelli S; Mordenti M; Mingarelli R; Sangiorgi L; Dallapiccola B
Hum Mutat; 2005 Sep; 26(3):280. PubMed ID: 16088908
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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; 11(7):1037-41. PubMed ID: 18810975
[TBL] [Abstract][Full Text] [Related]
9. Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
Li J; Wang Z; Han Y; Jin C; Cheng D; Zhou YA; Zhen J
Mol Genet Genomic Med; 2022 Mar; 10(3):e1878. PubMed ID: 35106951
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.
Vujic M; Bergman A; Romanus B; Wahlström J; Martinsson T
Int J Mol Med; 2004 Jan; 13(1):47-52. PubMed ID: 14654969
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
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. 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. PubMed ID: 9326317
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
Lemos MC; Kotanko P; Christie PT; Harding B; Javor T; Smith C; Eastell R; Thakker RV
J Clin Endocrinol Metab; 2005 Sep; 90(9):5386-92. PubMed ID: 15985493
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]