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Results: 6

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.

PMID:
22863190
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

[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
[PubMed - indexed for MEDLINE]
3.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

PMID:
12362985
[PubMed - indexed for MEDLINE]
Free Article
4.

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

Prockop DJ, Constantinou CD, Dombrowski KE, Hojima Y, Kadler KE, Kuivaniemi H, Tromp G, Vogel BE.

Am J Med Genet. 1989 Sep;34(1):60-7. Review.

PMID:
2683782
[PubMed - indexed for MEDLINE]
5.

Osteogenesis imperfecta at the beginning of bone and joint decade.

Primorac D, Rowe DW, Mottes M, Barisić I, Anticević D, Mirandola S, Gomez Lira M, Kalajzić I, Kusec V, Glorieux FH.

Croat Med J. 2001 Aug;42(4):393-415. Review.

PMID:
11471191
[PubMed - indexed for MEDLINE]
Free Article
6.

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
[PubMed - indexed for MEDLINE]

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