PubMed

Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K.

Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

Hubmacher D, Apte SS.

Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Review.

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17.

Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O'Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW.

PLoS One. 2010 Sep 17;5(9). doi:pii: e12817. 10.1371/journal.pone.0012817.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.

Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D.

Ann Trop Paediatr. 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206.

Panagopoulos P, Fryssira H, Koutras I, Daskalakis G, Economou A, Benetou V, Antsaklis A.

J Obstet Gynaecol. 2005 Nov;25(8):818-20. No abstract available.

Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ.

Am J Med Genet A. 2005 Jan 30;132A(3):320-3. Review.

Zhang X, Boles RG, Law SK, Lin M.

J AAPOS. 2004 Apr;8(2):198-200. Review. No abstract available.