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Items: 8

1.

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.

2.

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
3.

New genes in bone development: what's new in osteogenesis imperfecta.

Marini JC, Blissett AR.

J Clin Endocrinol Metab. 2013 Aug;98(8):3095-103. doi: 10.1210/jc.2013-1505. Epub 2013 Jun 14. Review.

4.

A brilliant breakthrough in OI type V.

Lazarus S, Moffatt P, Duncan EL, Thomas GP.

Osteoporos Int. 2014 Feb;25(2):399-405. doi: 10.1007/s00198-013-2465-8. Epub 2013 Sep 13. Review.

PMID:
24030286
5.

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

Marini JC, Reich A, Smith SM.

Curr Opin Pediatr. 2014 Aug;26(4):500-7. doi: 10.1097/MOP.0000000000000117. Review.

6.

What is new in genetics and osteogenesis imperfecta classification?

Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B.

J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18. Review.

7.

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].

Hasegawa K.

Clin Calcium. 2010 Aug;20(8):1190-5. doi: CliCa100811901195. Review. Japanese.

PMID:
20675929
8.

Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.

Rohrbach M, Giunta C.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):175-89. doi: 10.1002/ajmg.c.31334. Epub 2012 Jul 12. Review.

PMID:
22791419

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