BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

249 related articles for article (PubMed ID: 29499418)

  • 1. 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; 110():368-377. PubMed ID: 29499418
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 155():116293. PubMed ID: 34902613
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Xu Y; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Int J Mol Med; 2018 Jun; 41(6):3662-3670. PubMed ID: 29512769
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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; 58(1):21-7. PubMed ID: 25450603
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
    Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
    Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
    Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
    Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
    Liu Y; Song L; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Song Y; Xing X; Asan ; Li M
    Clin Chim Acta; 2016 Oct; 461():172-80. PubMed ID: 27450065
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
    Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
    Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
    Maghami F; Tabei SMB; Moravej H; Dastsooz H; Modarresi F; Silawi M; Faghihi MA
    BMC Med Genet; 2018 May; 19(1):86. PubMed ID: 29801479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 484():141-147. PubMed ID: 29807018
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 85(1):37-46. PubMed ID: 32770541
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
    Caparros-Martin JA; Aglan MS; Temtamy S; Otaify GA; Valencia M; Nevado J; Vallespin E; Del Pozo A; Prior de Castro C; Calatrava-Ferreras L; Gutierrez P; Bueno AM; Sagastizabal B; Guillen-Navarro E; Ballesta-Martinez M; Gonzalez V; Basaran SY; Buyukoglan R; Sarikepe B; Espinoza-Valdez C; Cammarata-Scalisi F; Martinez-Glez V; Heath KE; Lapunzina P; Ruiz-Perez VL
    Mol Genet Genomic Med; 2017 Jan; 5(1):28-39. PubMed ID: 28116328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
    Xu XJ; Lv F; Liu Y; Wang JY; Ma DD; Asan ; Wang JW; Song LJ; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    J Hum Genet; 2017 Feb; 62(2):205-211. PubMed ID: 27762305
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.
    Rodriguez Celin M; Moosa S; Fano V
    Ann Hum Genet; 2018 Nov; 82(6):477-481. PubMed ID: 30039845
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 9(6):e1675. PubMed ID: 33939306
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
    Xi L; Zhang H; Zhang ZL
    J Bone Miner Metab; 2021 May; 39(3):416-422. PubMed ID: 33070251
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.