These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

574 related articles for article (PubMed ID: 31159867)

  • 1. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
    Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
    Hum Genomics; 2019 Jun; 13(1):25. PubMed ID: 31159867
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
    Shapiro JR; Lietman C; Grover M; Lu JT; Nagamani SC; Dawson BC; Baldridge DM; Bainbridge MN; Cohn DH; Blazo M; Roberts TT; Brennen FS; Wu Y; Gibbs RA; Melvin P; Campeau PM; Lee BH
    J Bone Miner Res; 2013 Jul; 28(7):1523-30. PubMed ID: 23408678
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
    Lazarus S; McInerney-Leo AM; McKenzie FA; Baynam G; Broley S; Cavan BV; Munns CF; Pruijs JE; Sillence D; Terhal PA; Pryce K; Brown MA; Zankl A; Thomas G; Duncan EL
    BMC Musculoskelet Disord; 2014 Mar; 15():107. PubMed ID: 24674092
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
    Grover M; Campeau PM; Lietman CD; Lu JT; Gibbs RA; Schlesinger AE; Lee BH
    J Bone Miner Res; 2013 Nov; 28(11):2333-7. PubMed ID: 23674381
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
    Semler O; Garbes L; Keupp K; Swan D; Zimmermann K; Becker J; Iden S; Wirth B; Eysel P; Koerber F; Schoenau E; Bohlander SK; Wollnik B; Netzer C
    Am J Hum Genet; 2012 Aug; 91(2):349-57. PubMed ID: 22863195
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
    Hoyer-Kuhn H; Semler O; Garbes L; Zimmermann K; Becker J; Wollnik B; Schoenau E; Netzer C
    J Bone Miner Res; 2014 Jun; 29(6):1387-91. PubMed ID: 24293101
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
    Reich A; Bae AS; Barnes AM; Cabral WA; Hinek A; Stimec J; Hill SC; Chitayat D; Marini JC
    J Clin Endocrinol Metab; 2015 Feb; 100(2):E325-32. PubMed ID: 25387264
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype study in type V osteogenesis imperfecta.
    Balasubramanian M; Parker MJ; Dalton A; Giunta C; Lindert U; Peres LC; Wagner BE; Arundel P; Offiah A; Bishop NJ
    Clin Dysmorphol; 2013 Jul; 22(3):93-101. PubMed ID: 23612438
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
    Ho Duy B; Zhytnik L; Maasalu K; Kändla I; Prans E; Reimann E; Märtson A; Kõks S
    Hum Genomics; 2016 Aug; 10(1):27. PubMed ID: 27519266
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
    Blouin S; Fratzl-Zelman N; Glorieux FH; Roschger P; Klaushofer K; Marini JC; Rauch F
    J Bone Miner Res; 2017 Sep; 32(9):1884-1892. PubMed ID: 28548288
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 30(11):2333-2342. PubMed ID: 31363794
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
    Cho TJ; Lee KE; Lee SK; Song SJ; Kim KJ; Jeon D; Lee G; Kim HN; Lee HR; Eom HH; Lee ZH; Kim OH; Park WY; Park SS; Ikegawa S; Yoo WJ; Choi IH; Kim JW
    Am J Hum Genet; 2012 Aug; 91(2):343-8. PubMed ID: 22863190
    [TBL] [Abstract][Full Text] [Related]  

  • 14. IFITM5 mutations and osteogenesis imperfecta.
    Hanagata N
    J Bone Miner Metab; 2016 Mar; 34(2):123-31. PubMed ID: 26031935
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
    Mäkitie RE; Pekkinen M; Morisada N; Kobayashi D; Yonezawa Y; Nishimura G; Ikegawa S; Mäkitie O
    Calcif Tissue Int; 2021 Dec; 109(6):626-632. PubMed ID: 34156493
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
    Guillén-Navarro E; Ballesta-Martínez MJ; Valencia M; Bueno AM; Martinez-Glez V; López-González V; Burnyte B; Utkus A; Lapunzina P; Ruiz-Perez VL
    Am J Med Genet A; 2014 May; 164A(5):1136-42. PubMed ID: 24478195
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
    Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.
    Wu D; Wang Y; Huang H
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1287. PubMed ID: 32383316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 29.