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Items: 1 to 20 of 180

1.

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. doi: 10.1002/jbmr.2156.

2.

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 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2.

3.

IFITM5 mutations and osteogenesis imperfecta.

Hanagata N.

J Bone Miner Metab. 2016 Mar;34(2):123-31. doi: 10.1007/s00774-015-0667-1. Epub 2015 Jun 2. Review.

PMID:
26031935
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. doi: 10.1002/jbmr.1983.

5.

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. doi: 10.1002/ajmg.a.36409. Epub 2014 Jan 29.

PMID:
24478195
6.

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 10;91(2):343-8. doi: 10.1016/j.ajhg.2012.06.005. Epub 2012 Aug 2.

7.

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. doi: 10.1097/MCD.0b013e32836032f0.

PMID:
23612438
8.

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 27;15:107. doi: 10.1186/1471-2474-15-107.

9.

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.

Farber CR, Reich A, Barnes AM, Becerra P, Rauch F, Cabral WA, Bae A, Quinlan A, Glorieux FH, Clemens TL, Marini JC.

J Bone Miner Res. 2014 Jun;29(6):1402-11.

10.

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.

Lietman CD, Marom R, Munivez E, Bertin TK, Jiang MM, Chen Y, Dawson B, Weis MA, Eyre D, Lee B.

J Bone Miner Res. 2015 Mar;30(3):489-98. doi: 10.1002/jbmr.2363.

11.

Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.

Zhang Z, Li M, He JW, Fu WZ, Zhang CQ, Zhang ZL.

PLoS One. 2013 Aug 20;8(8):e72337. doi: 10.1371/journal.pone.0072337. eCollection 2013.

12.

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. doi: 10.1210/jc.2014-3082. Epub 2014 Nov 11.

13.

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. doi: 10.1002/jbmr.1891.

14.

PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.

Fitzgerald J, Holden P, Wright H, Wilmot B, Hata A, Steiner RD, Basel D.

J Rare Disord. 2013 Dec;1(2):37-42.

15.

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH.

J Med Genet. 2013 Jan;50(1):21-4. doi: 10.1136/jmedgenet-2012-101307.

PMID:
23240094
16.

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ.

Am J Med Genet A. 2013 Aug;161A(8):1972-9. doi: 10.1002/ajmg.a.36024. Epub 2013 Jun 26.

PMID:
23804581
17.

Type V osteogenesis imperfecta: a new form of brittle bone disease.

Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ.

J Bone Miner Res. 2000 Sep;15(9):1650-8.

18.

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.

Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5.

PMID:
18755172
19.

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY.

J Genet Genomics. 2011 Apr 20;38(4):149-56. doi: 10.1016/j.jgg.2011.03.002. Epub 2011 Mar 24.

PMID:
21530898
20.

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.

Patoine A, Gaumond MH, Jaiswal PK, Fassier F, Rauch F, Moffatt P.

J Bone Miner Res. 2014 Sep;29(9):2004-16. doi: 10.1002/jbmr.2243.

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