Osteogenesis imperfecta-Reference-Cited by-同舟云学术

Osteogenesis imperfecta

Published:2017-08-18 Issue:1 Volume:3 Page:
ISSN:2056-676X
Container-title:Nature Reviews Disease Primers
language:en
Short-container-title:Nat Rev Dis Primers

Author:

Marini Joan C.,Forlino Antonella,Bächinger Hans Peter,Bishop Nick J.,Byers Peter H.,Paepe Anne De,Fassier Francois,Fratzl-Zelman Nadja,Kozloff Kenneth M.,Krakow Deborah,Montpetit Kathleen,Semler Oliver

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://www.nature.com/articles/nrdp201752.pdf

Reference243 articles.

1. Marini, J. C. et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum. Mutat. 28, 209–221 (2007). A paper that provides the best genotype–phenotype correlation for collagen mutations.

2. Marini, J. C. in Nelson Textbook of Pediatrics (eds Kliegman, R. M., Stanton, B., St. Geme, J., Schor, N. & Behrman, R. E. ) 2437–2440 (Elsevier Health Sciences, 2011).

3. Kang, H., Aryal, A. C. S. & Marini, J. C. Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia. Transl Res. 181, 27–48 (2017).

4. Forlino, A. & Marini, J. C. Osteogenesis imperfecta. Lancet 387, 1657–1671 (2016). An up-to-date review of the genetics of osteogenesis imperfecta.

5. Orioli, I. M., Castilla, E. E. & Barbosa-Neto, J. G. The birth prevalence rates for the skeletal dysplasias. J. Med. Genet. 23, 328–332 (1986).

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