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Results: 7

Cited In for PubMed (Select 7550321)

1.

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Nakane T, Tando T, Aoyagi K, Hatakeyama K, Nishimura G, Coucke IP, Mortier G, Sugita K.

Mol Syndromol. 2011 Dec;2(1):21-26. Epub 2011 Oct 18.

2.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

3.

Extracellular matrix molecules: potential targets in pharmacotherapy.

Järveläinen H, Sainio A, Koulu M, Wight TN, Penttinen R.

Pharmacol Rev. 2009 Jun;61(2):198-223. doi: 10.1124/pr.109.001289. Review.

4.

Essential role of lysyl oxidases in notochord development.

Gansner JM, Mendelsohn BA, Hultman KA, Johnson SL, Gitlin JD.

Dev Biol. 2007 Jul 15;307(2):202-13. Epub 2007 May 1.

5.

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV.

J Clin Invest. 2005 Oct;115(10):2832-42.

6.

Altered endochondral bone development in matrix metalloproteinase 13-deficient mice.

Stickens D, Behonick DJ, Ortega N, Heyer B, Hartenstein B, Yu Y, Fosang AJ, Schorpp-Kistner M, Angel P, Werb Z.

Development. 2004 Dec;131(23):5883-95.

7.

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.

J Med Genet. 2000 Apr;37(4):263-71.

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