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Journal Abstract Search

675 related items for PubMed ID: 11317364

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  • 23. Syndromes with congenital brittle bones.
    Plotkin H.
    BMC Pediatr; 2004 Aug 31; 4():16. PubMed ID: 15339338
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  • 27. Amino acid sequence environment modulates the disruption by osteogenesis imperfecta glycine substitutions in collagen-like peptides.
    Yang W, Battineni ML, Brodsky B.
    Biochemistry; 1997 Jun 10; 36(23):6930-5. PubMed ID: 9188687
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  • 28. Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.
    Benušienė E, Kučinskas V.
    Med Sci Monit; 2000 Jun 10; 6(2):217-26. PubMed ID: 11208313
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  • 29. 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 15; 11(1):19. PubMed ID: 28810924
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  • 31. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.
    Hum Mutat; 2007 Apr 15; 28(4):387-95. PubMed ID: 17211858
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  • 32. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.
    Körkkö J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, Prockop DJ, Ala-Kokko L.
    Hum Mutat; 1997 Apr 15; 9(2):148-56. PubMed ID: 9067755
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  • 35. 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 15; 49(5):564-9. PubMed ID: 17875077
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  • 36. Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen.
    Bächinger HP, Morris NP, Davis JM.
    Am J Med Genet; 1993 Jan 15; 45(2):152-62. PubMed ID: 8456797
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  • 39. 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 15; 30(1):69-77. PubMed ID: 21667357
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  • 40. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
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