BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

564 related articles for article (PubMed ID: 28810924)

  • 1. Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
    Zhytnik L; Maasalu K; Reimann E; Prans E; Kõks S; Märtson A
    Hum Genomics; 2017 Aug; 11(1):19. PubMed ID: 28810924
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
    Hruskova L; Fijalkowski I; Van Hul W; Marik I; Mortier G; Martasek P; Mazura I
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Sep; 160(3):442-7. PubMed ID: 27132807
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
    Marini JC; Forlino A; Cabral WA; Barnes AM; San Antonio JD; Milgrom S; Hyland JC; Körkkö J; Prockop DJ; De Paepe A; Coucke P; Symoens S; Glorieux FH; Roughley PJ; Lund AM; Kuurila-Svahn K; Hartikka H; Cohn DH; Krakow D; Mottes M; Schwarze U; Chen D; Yang K; Kuslich C; Troendle J; Dalgleish R; Byers PH
    Hum Mutat; 2007 Mar; 28(3):209-21. PubMed ID: 17078022
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
    Lindahl K; Åström E; Rubin CJ; Grigelioniene G; Malmgren B; Ljunggren Ö; Kindmark A
    Eur J Hum Genet; 2015 Aug; 23(8):1042-50. PubMed ID: 25944380
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
    Bardai G; Moffatt P; Glorieux FH; Rauch F
    Osteoporos Int; 2016 Dec; 27(12):3607-3613. PubMed ID: 27509835
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
    Ries-Levavi L; Ish-Shalom T; Frydman M; Lev D; Cohen S; Barkai G; Goldman B; Byers P; Friedman E
    Hum Mutat; 2004 Apr; 23(4):399-400. PubMed ID: 15024745
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
    Ward LM; Lalic L; Roughley PJ; Glorieux FH
    Hum Mutat; 2001 May; 17(5):434. PubMed ID: 11317364
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
    Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
    Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
    Bodian DL; Chan TF; Poon A; Schwarze U; Yang K; Byers PH; Kwok PY; Klein TE
    Hum Mol Genet; 2009 Feb; 18(3):463-71. PubMed ID: 18996919
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
    Xia XY; Li WW; Li N; Wu QY; Cui YX; Li XJ
    Mol Med Rep; 2014 Jun; 9(6):2187-90. PubMed ID: 24682174
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.