707 related articles for article (PubMed ID: 24715559)
61. 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]
62. 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]
63. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY; Liu Y; Song LJ; Lv F; Xu XJ; San A; Wang J; Yang HM; Yang ZY; Jiang Y; Wang O; Xia WB; Xing XP; Li M
Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
[TBL] [Abstract][Full Text] [Related]
64. Intracellular and Extracellular Markers of Lethality in Osteogenesis Imperfecta: A Quantitative Proteomic Approach.
Bini L; Schvartz D; Carnemolla C; Besio R; Garibaldi N; Sanchez JC; Forlino A; Bianchi L
Int J Mol Sci; 2021 Jan; 22(1):. PubMed ID: 33406681
[TBL] [Abstract][Full Text] [Related]
65. 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]
66. Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
Cho SY; Ki CS; Sohn YB; Kim SJ; Maeng SH; Jin DK
J Korean Med Sci; 2013 Jul; 28(7):1107-10. PubMed ID: 23853499
[TBL] [Abstract][Full Text] [Related]
67. 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]
68. 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]
69. Osteogenesis imperfecta and therapeutics.
Morello R
Matrix Biol; 2018 Oct; 71-72():294-312. PubMed ID: 29540309
[TBL] [Abstract][Full Text] [Related]
70. [Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
Galicka A
Postepy Hig Med Dosw (Online); 2012 Jun; 66():359-71. PubMed ID: 22706122
[TBL] [Abstract][Full Text] [Related]
71. COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.
Wang M; Guo Y; Rong P; Xu H; Gong L; Deng H; Yuan L
Mol Genet Genomic Med; 2019 May; 7(5):e619. PubMed ID: 30829463
[TBL] [Abstract][Full Text] [Related]
72. Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta.
Tauer JT; Abdullah S; Rauch F
J Bone Miner Res; 2019 Feb; 34(2):207-214. PubMed ID: 30357929
[TBL] [Abstract][Full Text] [Related]
73. Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Symoens S; Steyaert W; Demuynck L; De Paepe A; Diderich KE; Malfait F; Coucke PJ
Am J Med Genet A; 2017 Apr; 173(4):1047-1050. PubMed ID: 28261977
[TBL] [Abstract][Full Text] [Related]
74. Health-related quality of life in children with osteogenesis imperfecta: a large-sample study.
Song Y; Zhao D; Li L; Lv F; Wang O; Jiang Y; Xia W; Xing X; Li M
Osteoporos Int; 2019 Feb; 30(2):461-468. PubMed ID: 30569229
[TBL] [Abstract][Full Text] [Related]
75. Genetic drift: A case of abuse.
Marion R
Am J Med Genet C Semin Med Genet; 2015 Dec; 169(4):349-52. PubMed ID: 26462608
[TBL] [Abstract][Full Text] [Related]
76. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Stephen J; Shukla A; Dalal A; Girisha KM; Shah H; Gupta N; Kabra M; Dabadghao P; Hasegawa K; Tanaka H; Phadke SR
Am J Med Genet A; 2014 Jun; 164A(6):1482-9. PubMed ID: 24668929
[TBL] [Abstract][Full Text] [Related]
77. Update on the evaluation and treatment of osteogenesis imperfecta.
Harrington J; Sochett E; Howard A
Pediatr Clin North Am; 2014 Dec; 61(6):1243-57. PubMed ID: 25439022
[TBL] [Abstract][Full Text] [Related]
78. Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK; Coucke PJ; De Paepe AM; Symoens S; Malfait F; Gentile FV; Sangiorgi L; D'Eufemia P; Celli M; Garretsen TJ; Cremers CW; Dhooge IJ; De Leenheer EM
Orphanet J Rare Dis; 2011 Dec; 6():88. PubMed ID: 22206639
[TBL] [Abstract][Full Text] [Related]
79. Current Overview of Osteogenesis Imperfecta.
Deguchi M; Tsuji S; Katsura D; Kasahara K; Kimura F; Murakami T
Medicina (Kaunas); 2021 May; 57(5):. PubMed ID: 34068551
[TBL] [Abstract][Full Text] [Related]
80. Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.
Trejo P; Rauch F
Osteoporos Int; 2016 Dec; 27(12):3427-3437. PubMed ID: 27492436
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
