These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

675 related articles for article (PubMed ID: 29543922)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 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. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
    Chen CP; Lin SP; Suo YN; Chern SR; Su JW; Wang W
    Genet Couns; 2012; 23(3):359-65. PubMed ID: 23072183
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.
    Sato A; Ouellet J; Muneta T; Glorieux FH; Rauch F
    Bone; 2016 May; 86():53-7. PubMed ID: 26927310
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
    Benusiené E; Kucinskas V
    J Appl Genet; 2003; 44(1):95-102. PubMed ID: 12590186
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 34.