BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 16272059)

  • 1. Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
    Nwosu BU; Raygada M; Tsilou ET; Rennert OM; Stratakis CA
    Ophthalmic Genet; 2005 Sep; 26(3):135-8. PubMed ID: 16272059
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 5. Peters-Rieger's syndrome.
    Awan KJ
    J Pediatr Ophthalmol; 1977; 14(2):112-6. PubMed ID: 406376
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 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. Osteogenesis imperfecta: clinical, biochemical and molecular findings.
    Venturi G; Tedeschi E; Mottes M; Valli M; Camilot M; Viglio S; Antoniazzi F; Tatò L
    Clin Genet; 2006 Aug; 70(2):131-9. PubMed ID: 16879195
    [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. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
    Qin W; He JX; Shi J; Xing QH; Gao JJ; He L; Qian XQ; Liu ZJ; Shu AL; He L
    Yi Chuan Xue Bao; 2005 Mar; 32(3):248-52. PubMed ID: 15931785
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
    Gajko-Galicka A
    Acta Biochim Pol; 2002; 49(2):433-41. PubMed ID: 12362985
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders.
    De Coster PJ; Cornelissen M; De Paepe A; Martens LC; Vral A
    Arch Oral Biol; 2007 Feb; 52(2):101-9. PubMed ID: 17118335
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
    Mackenroth L; Fischer-Zirnsak B; Egerer J; Hecht J; Kallinich T; Stenzel W; Spors B; von Moers A; Mundlos S; Kornak U; Gerhold K; Horn D
    Am J Med Genet A; 2016 Apr; 170A(4):1080-5. PubMed ID: 26799614
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.
    Mottes M; Sangalli A; Pignatti PF
    Am J Med Genet; 1993 Jan; 45(2):217-22. PubMed ID: 8096115
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
    Swinnen FK; De Leenheer EM; Coucke PJ; Cremers CW; Dhooge IJ
    Laryngoscope; 2009 Jun; 119(6):1171-9. PubMed ID: 19358256
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism.
    Chen CP; Lin SP; Su YN; Chern SR; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2013 Mar; 52(1):106-9. PubMed ID: 23548228
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in
    Lin Z; Zeng J; Wang X
    Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239369
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta.
    Galicka A; Gindzieński A
    J Appl Genet; 2002; 43(3):365-9. PubMed ID: 12177526
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.