130 related articles for article (PubMed ID: 25608812)
1. 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]
2. [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]
3. A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.
Fuccio A; Iorio M; Amato F; Elce A; Ingino R; Filocamo M; Castaldo G; Salvatore F; Tomaiuolo R
J Mol Diagn; 2011 Nov; 13(6):648-56. PubMed ID: 21884818
[TBL] [Abstract][Full Text] [Related]
4. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H; Yue H; Wang C; Hu W; Gu J; He J; Fu W; Hu Y; Li M; Zhang Z
Mol Med Rep; 2016 Nov; 14(5):4918-4926. PubMed ID: 27748872
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.
Xu Z; Li Y; Zhang X; Zeng F; Yuan M; Liu M; Wang QK; Liu JY
J Genet Genomics; 2011 Apr; 38(4):149-56. PubMed ID: 21530898
[TBL] [Abstract][Full Text] [Related]
7. [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].
Wang Z; Xu DL; Chen Z; Hu JY; Yang Z; Wang LT
Zhonghua Yi Xue Za Zhi; 2006 Jan; 86(3):170-3. PubMed ID: 16638323
[TBL] [Abstract][Full Text] [Related]
8. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
De Vos A; Sermon K; Van de Velde H; Joris H; Vandervorst M; Lissens W; De Paepe A; Liebaers I; Van Steirteghem A
Hum Genet; 2000 Jun; 106(6):605-13. PubMed ID: 10942108
[TBL] [Abstract][Full Text] [Related]
9. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
Kataoka K; Ogura E; Hasegawa K; Inoue M; Seino Y; Morishima T; Tanaka H
Pediatr Int; 2007 Oct; 49(5):564-9. PubMed ID: 17875077
[TBL] [Abstract][Full Text] [Related]
10. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Augusciak-Duma A; Witecka J; Sieron AL; Janeczko M; Pietrzyk JJ; Ochman K; Galicka A; Borszewska-Kornacka MK; Pilch J; Jakubowska-Pietkiewicz E
Acta Biochim Pol; 2018; 65(1):79-86. PubMed ID: 29543922
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. 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]
14. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS; Song HR; Cho TJ; Kim HJ; Lee TM; Jin HS; Park HY; Kang S; Jung SC; Koo SK
Hum Mutat; 2006 Jun; 27(6):599. PubMed ID: 16705691
[TBL] [Abstract][Full Text] [Related]
15. Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.
Jia M; Shi R; Zhao X; Fu Z; Bai Z; Sun T; Zhao X; Wang W; Xu C; Yan F
Medicine (Baltimore); 2017 Sep; 96(39):e7783. PubMed ID: 28953610
[TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B; Zhytnik L; Maasalu K; Kändla I; Prans E; Reimann E; Märtson A; Kõks S
Hum Genomics; 2016 Aug; 10(1):27. PubMed ID: 27519266
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Hartikka H; Kuurila K; Körkkö J; Kaitila I; Grénman R; Pynnönen S; Hyland JC; Ala-Kokko L
Hum Mutat; 2004 Aug; 24(2):147-54. PubMed ID: 15241796
[TBL] [Abstract][Full Text] [Related]
19. Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
Ju M; Bai X; Zhang T; Lin Y; Yang L; Zhou H; Chang X; Guan S; Ren X; Li K; Wang Y; Li G
J Bone Miner Metab; 2020 Mar; 38(2):188-197. PubMed ID: 31414283
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R; McMahon R; Nunn J; Bamford R; Afifi A; Bishop N; Dalton A
Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786509
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
