242 related articles for article (PubMed ID: 21039224)
21. 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]
22. 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]
23. 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. PubMed ID: 28922105
[TBL] [Abstract][Full Text] [Related]
24. [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]
25. Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Cheung PK; McCormick C; Crawford BE; Esko JD; Tufaro F; Duncan G
Am J Hum Genet; 2001 Jul; 69(1):55-66. PubMed ID: 11391482
[TBL] [Abstract][Full Text] [Related]
26. [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]
27. Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan.
Shi YR; Wu JY; Hsu YA; Lee CC; Tsai CH; Tsai FJ
Genet Test; 2002; 6(3):237-43. PubMed ID: 12490068
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 17589361
[TBL] [Abstract][Full Text] [Related]
29. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
Bernard MA; Hall CE; Hogue DA; Cole WG; Scott A; Snuggs MB; Clines GA; Lüdecke HJ; Lovett M; Van Winkle WB; Hecht JT
Cell Motil Cytoskeleton; 2001 Feb; 48(2):149-62. PubMed ID: 11169766
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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; 99(1):59-62. PubMed ID: 11170095
[TBL] [Abstract][Full Text] [Related]
32. [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]
33. 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]
34. [A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].
Zhao WQ; Song SJ; Wei Q; Qiao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):241-4. PubMed ID: 19504431
[TBL] [Abstract][Full Text] [Related]
35. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W; Van Hul W
Hum Mutat; 2000; 15(3):220-7. PubMed ID: 10679937
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
Sgariglia F; Pedrini E; Bradfield JP; Bhatti TR; D'Adamo P; Dormans JP; Gunawardena AT; Hakonarson H; Hecht JT; Sangiorgi L; Pacifici M; Enomoto-Iwamoto M; Grant SF
Bone; 2015 Mar; 72():123-7. PubMed ID: 25498973
[TBL] [Abstract][Full Text] [Related]
38. 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. PubMed ID: 23439489
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]