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Showing results for osteogenesis imperfecta with normal sclera, dominant form AND humans[mesh] AND review[publication type]
Your search for Osteogenesis imperfecta with normal sclerae, dominant form AND humans[mesh] AND review[publication type] retrieved no results
What is new in genetics and osteogenesis imperfecta classification?
Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B. Valadares ER, et al. J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18. J Pediatr (Rio J). 2014. PMID: 25046257 Free article. Review.
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence …
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: L …
Osteogenesis imperfecta - A clinical update.
Tournis S, Dede AD. Tournis S, et al. Metabolism. 2018 Mar;80:27-37. doi: 10.1016/j.metabol.2017.06.001. Epub 2017 Jun 8. Metabolism. 2018. PMID: 28625337 Review.
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal …
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogenous group of g …
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC, Cabral WA, Barnes AM. Marini JC, et al. Cell Tissue Res. 2010 Jan;339(1):59-70. doi: 10.1007/s00441-009-0872-0. Epub 2009 Oct 28. Cell Tissue Res. 2010. PMID: 19862557 Free PMC article. Review.
Classical osteogenesis imperfecta (OI) is a dominant genetic disorder of connective tissue caused by mutations in either of the two genes encoding type I collagen, COL1A1 and COL1A2. ...Patients with mutations in CRTAP or LEPRE1 have a lethal to severe osteoc …
Classical osteogenesis imperfecta (OI) is a dominant genetic disorder of connective tissue caused by mutations in eithe …