PubMed

Huber C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Review.

Yang S, Wang C.

Bone. 2012 Sep;51(3):407-17. doi: 10.1016/j.bone.2012.06.021. Epub 2012 Jul 4.

Chen CP, Chang TY, Chen CY, Wang TY, Tsai FJ, Wu PC, Chern SR, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):100-5. doi: 10.1016/j.tjog.2012.01.020.

Rix S, Calmont A, Scambler PJ, Beales PL.

Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12.

Jensen VL, Bialas NJ, Bishop-Hurley SL, Molday LL, Kida K, Nguyen PA, Blacque OE, Molday RS, Leroux MR, Riddle DL.

PLoS Genet. 2010 Nov 24;6(11):e1001199. doi: 10.1371/journal.pgen.1001199.

Cavalcanti DP, Huber C, Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Feb;48(2):88-92. doi: 10.1136/jmg.2009.069468. Epub 2009 Jul 30.

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.

Hall T, Bush A, Fell J, Offiah A, Smith V, Abel R.

Pediatr Pulmonol. 2009 Feb;44(2):198-201. doi: 10.1002/ppul.20960.

Huang W, Kane JK, Li MD.

Biochem Biophys Res Commun. 2008 Sep 5;373(4):653-8. doi: 10.1016/j.bbrc.2008.06.085. Epub 2008 Jul 2.

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ.

Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29.