182 related articles for article (PubMed ID: 18330718)
1. Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.
Sfar S; Abid A; Mahfoudh W; Ouragini H; Ouechtati F; Abdelhak S; Chouchane L
Mol Biol Rep; 2009 Apr; 36(4):661-7. PubMed ID: 18330718
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
Baasanjav S; Jamsheer A; Kolanczyk M; Horn D; Latos T; Hoffmann K; Latos-Bielenska A; Mundlos S
BMC Med Genet; 2010 Jul; 11():110. PubMed ID: 20618940
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
Faiyaz-Ul-Haque M; Ahmad W; Zaidi SH; Hussain S; Haque S; Ahmad M; Cohn DH; Tsui LC
Clin Genet; 2004 Aug; 66(2):144-51. PubMed ID: 15253765
[TBL] [Abstract][Full Text] [Related]
9. Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
Ajmal M; Muhammad H; Nasir M; Shoaib M; Malik SA; Ullah I
Medicina (Kaunas); 2022 Dec; 59(1):. PubMed ID: 36676722
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. [Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].
Lou G; Yang K; Qin L; Zhang Y; Wang H; Hou Q; He M; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):91-95. PubMed ID: 29419870
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [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]
15. A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses.
Guo X; Lin M; Yan W; Chen W; Hong G
Int J Oncol; 2019 Mar; 54(3):859-868. PubMed ID: 30664192
[TBL] [Abstract][Full Text] [Related]
16. Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.
Li Y; Wang D; Wang W; Wang J; Li H; Wang J; Wang X; Fu Q
Genet Test Mol Biomarkers; 2009 Dec; 13(6):825-30. PubMed ID: 19839753
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing.
Liu H; Wu S; Duan L; Zhu W; Zhang S; Hu X; Jia W; Yang G; Liu C; Li W; Yang L; Guo L; Lin Y; Wang Y; He M; Yang Z; He Y; Cai Z; Wang D
Oncol Rep; 2015 Feb; 33(2):547-52. PubMed ID: 25421355
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [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. PubMed ID: 24327137
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]