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757 related items for PubMed ID: 31363794

  • 1. 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
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  • 2. 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
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  • 7. 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
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  • 8. 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
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  • 9. 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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  • 11. 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 15; 24(2):147-54. PubMed ID: 15241796
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  • 13. 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 15; 23(8):1042-50. PubMed ID: 25944380
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  • 15. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
    Xi L, Zhang H, Zhang ZL.
    J Bone Miner Metab; 2021 May 15; 39(3):416-422. PubMed ID: 33070251
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  • 16. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
    Tüysüz B, Elkanova L, Uludağ Alkaya D, Güleç Ç, Toksoy G, Güneş N, Yazan H, Bayhan AI, Yıldırım T, Yeşil G, Uyguner ZO.
    Bone; 2022 Feb 15; 155():116293. PubMed ID: 34902613
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  • 17. 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 15; 110():368-377. PubMed ID: 29499418
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  • 18. Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.
    Hald JD, Folkestad L, Harsløf T, Lund AM, Duno M, Jensen JB, Neghabat S, Brixen K, Langdahl B.
    Osteoporos Int; 2016 Nov 15; 27(11):3331-3341. PubMed ID: 27256333
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  • 19. Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.
    Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, Jamal R, Abdul Murad NA, Abd Aziz BB.
    Clin Chim Acta; 2018 Sep 15; 484():141-147. PubMed ID: 29807018
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  • 20. 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 Sep 15; 12(5):e0176466. PubMed ID: 28498836
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