143 related articles for article (PubMed ID: 25449076)
1. [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta].
Zhang H; Wu D; Hou Q; Liu Z; Qin L; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):730-2. PubMed ID: 25449076
[TBL] [Abstract][Full Text] [Related]
2. [Gene mutation analysis of a Chinese family with osteogenesis imperfecta].
Wang Z; Xu DL; Hu JY; Liao YH; Yang Z; Liang Q; Wang LT
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Apr; 23(2):192-4. PubMed ID: 16604495
[TBL] [Abstract][Full Text] [Related]
3. [Mutational analysis and prenatal diagnosis of COL1A1 and COL1A2 genes in four Chinese families affected with osteogenesis imperfecta].
Bai Y; Kong X; Liu N; Ren S; Guo H; Zhao K
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):705-708. PubMed ID: 28981938
[TBL] [Abstract][Full Text] [Related]
4. [Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].
Ju M; Zhang T; Bai X; Ren X; Li K; Li G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):140-4. PubMed ID: 27060301
[TBL] [Abstract][Full Text] [Related]
5. [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].
Ke LF; Zheng LW; Xie HH; Yan AZ; Zhu ZY; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):50-3. PubMed ID: 19199251
[TBL] [Abstract][Full Text] [Related]
6. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
[TBL] [Abstract][Full Text] [Related]
7. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
8. [Analysis of COL1A1 gene mutation in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta].
Huang Y; Guo L; Wang D; Yang M; Yang B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):653-6. PubMed ID: 27577215
[TBL] [Abstract][Full Text] [Related]
9. [Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta].
Bai X; Li K; Ren X; He X; Wang Y; Guan S; Jing Y; Li G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):344-7. PubMed ID: 24928016
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
Ries L; Frydman M; Barkai G; Goldman B; Friedman E
Prenat Diagn; 2000 Nov; 20(11):876-80. PubMed ID: 11113887
[TBL] [Abstract][Full Text] [Related]
11. Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta.
Wang Z; Yang Z; Ke Z; Yang S; Shi H; Wang L
J Investig Med; 2009 Jun; 57(5):662-7. PubMed ID: 19491628
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].
Jiao Z; Zheng L; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):123-126. PubMed ID: 32034735
[TBL] [Abstract][Full Text] [Related]
13. [Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta].
Song Y; Jin X; Kong J; Zhao D; Guo Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):472-5. PubMed ID: 25119913
[TBL] [Abstract][Full Text] [Related]
14. Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.
Yang Z; Ke ZF; Zeng C; Wang Z; Shi HJ; Wang LT
Genet Mol Res; 2011 Feb; 10(1):177-85. PubMed ID: 21341209
[TBL] [Abstract][Full Text] [Related]
15. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.
Gug C; Caba L; Mozos I; Stoian D; Atasie D; Gug M; Gorduza EV
Gene; 2020 May; 741():144565. PubMed ID: 32165296
[TBL] [Abstract][Full Text] [Related]
16. A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
Liu W; Gu F; Ji J; Lu D; Li X; Ma X
Mol Vis; 2007 Mar; 13():360-5. PubMed ID: 17392686
[TBL] [Abstract][Full Text] [Related]
17. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.
Peng H; Zhang Y; Long Z; Zhao D; Guo Z; Xue J; Xie Z; Xiong Z; Xu X; Su W; Wang B; Xia K; Hu Z
Gene; 2012 Jul; 502(2):168-71. PubMed ID: 22565191
[TBL] [Abstract][Full Text] [Related]
18. [Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].
Zhao X; Xiao J; Wang H; Ren X; Gao J; Wu Y; Lu C; Zhang X
Zhonghua Yi Xue Za Zhi; 2015 Nov; 95(43):3484-9. PubMed ID: 26813269
[TBL] [Abstract][Full Text] [Related]
19. Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.
Tsipouras P; Schwartz RC; Goldberg JD; Berkowitz RL; Ramirez F
J Med Genet; 1987 Jul; 24(7):406-9. PubMed ID: 2886666
[TBL] [Abstract][Full Text] [Related]
20. Genetic screening of a pedigree with osteogenesis imperfecta type Ⅰ and identification of a novel mutation in COL1A2 pathogenic gene.
Li R; Guo YP; Pan JX; Guo YB
Yi Chuan; 2015 Jan; 37(1):41-47. PubMed ID: 25608812
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
