BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

624 related articles for article (PubMed ID: 30614853)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
    Xi L; Zhang H; Zhang ZL
    J Bone Miner Metab; 2021 May; 39(3):416-422. PubMed ID: 33070251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
    Rauch F; Lalic L; Roughley P; Glorieux FH
    Eur J Hum Genet; 2010 Jun; 18(6):642-7. PubMed ID: 20087402
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta.
    Rauch F; Lalic L; Roughley P; Glorieux FH
    J Bone Miner Res; 2010 Jun; 25(6):1367-74. PubMed ID: 19929435
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
    Kanno J; Saito-Hakoda A; Kure S; Fujiwara I
    J Bone Miner Metab; 2018 May; 36(3):344-351. PubMed ID: 28528406
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
    Higuchi Y; Hasegawa K; Futagawa N; Yamashita M; Tanaka H; Tsukahara H
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1675. PubMed ID: 33939306
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
    Andersson K; Dahllöf G; Lindahl K; Kindmark A; Grigelioniene G; Åström E; Malmgren B
    PLoS One; 2017; 12(5):e0176466. PubMed ID: 28498836
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
    Maasalu K; Nikopensius T; Kõks S; Nõukas M; Kals M; Prans E; Zhytnik L; Metspalu A; Märtson A
    Hum Genomics; 2015 May; 9(1):6. PubMed ID: 25958000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
    Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
    Bone; 2018 May; 110():368-377. PubMed ID: 29499418
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
    Glorieux FH; Ward LM; Rauch F; Lalic L; Roughley PJ; Travers R
    J Bone Miner Res; 2002 Jan; 17(1):30-8. PubMed ID: 11771667
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 32.