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Journal Abstract Search

131 related items for PubMed ID: 38953412

  • 1. Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.
    Evin F, Atik T, Onay H, Goksen D, Darcan S, Cogulu O, Ozen S.
    J Pediatr Endocrinol Metab; 2024 Aug 27; 37(8):693-700. PubMed ID: 38953412
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  • 5. 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 27; 110():368-377. PubMed ID: 29499418
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  • 6. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.
    Aliyeva L, Ongen YD, Eren E, Sarisozen MB, Alemdar A, Temel SG, Sag SO.
    J Mol Diagn; 2024 Sep 27; 26(9):754-769. PubMed ID: 39025364
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  • 9. 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 27; 28(10):2985-2995. PubMed ID: 28725987
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  • 10. 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 27; 9(6):e1675. PubMed ID: 33939306
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  • 12. 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 27; 30(11):2333-2342. PubMed ID: 31363794
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  • 14. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
    Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR.
    Eur J Med Genet; 2015 Jan 27; 58(1):21-7. PubMed ID: 25450603
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  • 15. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
    Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.
    Mol Genet Genomic Med; 2018 Jan 27; 6(1):15-26. PubMed ID: 29150909
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  • 17. Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
    Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A.
    Ann Hum Genet; 2021 Jan 27; 85(1):37-46. PubMed ID: 32770541
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  • 19. Osteogenesis imperfecta in Brazilian patients.
    Trancozo M, Moraes MVD, Silva DA, Soares JAM, Barbirato C, Almeida MG, Santos LR, Rebouças MRGO, Akel AN, Sipolatti V, Nunes VRR, Errera FIV, Aguena M, Passos-Bueno MR, Paula F.
    Genet Mol Biol; 2019 Jan 27; 42(2):344-350. PubMed ID: 31429852
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  • 20. 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 27; 484():141-147. PubMed ID: 29807018
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