213 related articles for article (PubMed ID: 28242392)
1. Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.
Jiang Y; Pan J; Guo D; Zhang W; Xie J; Fang Z; Guo C; Fang Q; Jiang W; Guo Y
Clin Chim Acta; 2017 Jun; 469():111-118. PubMed ID: 28242392
[TBL] [Abstract][Full Text] [Related]
2. A Founder Pathogenic Variant of
Zhu W; Yan K; Chen X; Zhao W; Wu Y; Tang H; Chen M; Wu J; Wang P; Zhang R; Shen Y; Zhang D
Front Genet; 2021; 12():717294. PubMed ID: 34659339
[No Abstract] [Full Text] [Related]
3. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C; Trancozo M; Almeida MG; Almeida LS; Santos TO; Duarte JC; Rebouças MR; Sipolatti V; Nunes VR; Paula F
Genet Mol Res; 2015 Dec; 14(4):15848-58. PubMed ID: 26634552
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
Liu Y; Song L; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Song Y; Xing X; Asan ; Li M
Clin Chim Acta; 2016 Oct; 461():172-80. PubMed ID: 27450065
[TBL] [Abstract][Full Text] [Related]
5. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Han Y; Wang D; Guo J; Xiong Q; Li P; Zhou YA; Zhao B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1366. PubMed ID: 32588564
[TBL] [Abstract][Full Text] [Related]
6. Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
Maghami F; Tabei SMB; Moravej H; Dastsooz H; Modarresi F; Silawi M; Faghihi MA
BMC Med Genet; 2018 May; 19(1):86. PubMed ID: 29801479
[TBL] [Abstract][Full Text] [Related]
7. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM; Schwarze U; Christiansen HE; Pepin MG; Leistritz DF; Dineen R; Harris C; Burton BK; Angle B; Kim K; Sussman MD; Weis M; Eyre DR; Russell DW; McCarthy KJ; Steiner RD; Byers PH
Hum Mol Genet; 2011 Apr; 20(8):1595-609. PubMed ID: 21282188
[TBL] [Abstract][Full Text] [Related]
8. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
Liu Y; Asan ; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Xing X; Yu W; Wang J; Sun J; Song L; Zhu Y; Yang H; Wang J; Li M
Osteoporos Int; 2017 Oct; 28(10):2985-2995. PubMed ID: 28725987
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
Song Y; Zhao D; Xu X; Lv F; Li L; Jiang Y; Wang O; Xia W; Xing X; Li M
Osteoporos Int; 2018 Jun; 29(6):1389-1396. PubMed ID: 29520608
[TBL] [Abstract][Full Text] [Related]
10. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y; Takeyari S; Nakano Y; Kitaoka T; Nakayama H; Bizaoui V; Yamamoto K; Miyata K; Yamamoto K; Fujiwara M; Kubota T; Michigami T; Yamamoto K; Yamamoto T; Namba N; Ebina K; Yoshikawa H; Ozono K
Osteoporos Int; 2019 Nov; 30(11):2333-2342. PubMed ID: 31363794
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
Xu XJ; Lv F; Liu Y; Wang JY; Ma DD; Asan ; Wang JW; Song LJ; Jiang Y; Wang O; Xia WB; Xing XP; Li M
J Hum Genet; 2017 Feb; 62(2):205-211. PubMed ID: 27762305
[TBL] [Abstract][Full Text] [Related]
13. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM; Cabral WA; Weis M; Makareeva E; Mertz EL; Leikin S; Eyre D; Trujillo C; Marini JC
Hum Mutat; 2012 Nov; 33(11):1589-98. PubMed ID: 22718341
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
Xu XJ; Lv F; Song YW; Li LJ; Asan ; Wei XX; Zhao XL; Jiang Y; Wang O; Xing XP; Xia WB; Li M
Clin Chim Acta; 2019 Feb; 489():21-28. PubMed ID: 30408480
[TBL] [Abstract][Full Text] [Related]
16. NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ; Zhang H; Zhang ZL
Endocr Pract; 2019 Mar; 25(3):230-241. PubMed ID: 30913006
[TBL] [Abstract][Full Text] [Related]
17. Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I.
Lin Y; Li X; Huang X; Zheng D; Liu Y; Lan F; Wang Z
Injury; 2019 Dec; 50(12):2215-2219. PubMed ID: 31653500
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
[TBL] [Abstract][Full Text] [Related]
20. PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS; Nesbitt IM; Zwikstra EH; Nikkels PG; Piersma SR; Fratantoni SA; Jimenez CR; Huizer M; Morsman AC; Cobben JM; van Roij MH; Elting MW; Verbeke JI; Wijnaendts LC; Shaw NJ; Högler W; McKeown C; Sistermans EA; Dalton A; Meijers-Heijboer H; Pals G
Am J Hum Genet; 2009 Oct; 85(4):521-7. PubMed ID: 19781681
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
