PubMed

Al Kaissi A, Marrakchi Z, Nassib NM, Hofstaetter J, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2017 Mar;96(12):e6199. doi: 10.1097/MD.0000000000006199.

Yadav S, Rawal G.

Pan Afr Med J. 2016 Apr 25;23:227. eCollection 2016. Review.

Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B.

Eur J Med Genet. 2015 Dec;58(12):695-703. doi: 10.1016/j.ejmg.2015.10.010. Epub 2015 Oct 24. Review.

Elmistekawy E, Hudson CC, Williams A, Mesana T.

Asian Cardiovasc Thorac Ann. 2014 Sep;22(7):842-5. doi: 10.1177/0218492313485070. Epub 2013 Oct 9.

Cook JR, Carta L, Galatioto J, Ramirez F.

Clin Genet. 2015;87(1):11-20. doi: 10.1111/cge.12436. Epub 2014 Jul 10. Review.

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.

Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16.

Jeong HJ, Lee JJ, Lee BD, Park JM, Lee YM, Moon E.

Psychiatry Clin Neurosci. 2014 May;68(5):388-9. doi: 10.1111/pcn.12141. Epub 2014 Jan 8. No abstract available.

Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.

Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19. Review.

Zhu X, Zhang Y, Wang J, Yang JF, Yang YF, Tan ZP.

Gene. 2013 Oct 10;528(2):352-5. doi: 10.1016/j.gene.2013.07.024. Epub 2013 Jul 25.

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L.

Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25.

Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC.

Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.

Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A.

Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31.

Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B.

Am J Med Genet A. 2012 Jul;158A(7):1574-8. doi: 10.1002/ajmg.a.35388. Epub 2012 May 25.

Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba K, Toyama Y, Matsumoto M.

J Pediatr Orthop. 2011 Mar;31(2):186-93. doi: 10.1097/BPO.0b013e3182093da5.

Gupta A, Bathla S, Saini S, Kamal G.

Paediatr Anaesth. 2010 Dec;20(12):1138. doi: 10.1111/j.1460-9592.2010.03451.x. No abstract available.

Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K.

Genet Couns. 2010;21(2):225-32.

Gupta AK, Divekar DS, Shah B, Dhulkhed VK.

Paediatr Anaesth. 2010 Aug;20(8):771-3. doi: 10.1111/j.1460-9592.2010.03340.x. No abstract available.

Onrat ST, Emmiler M, Sivaci Y, Söylemez Z, Ozgöz A, Imirzalioğlu N.

Genet Mol Res. 2009 Apr 14;8(2):426-34.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D.

Exp Dermatol. 2008 Apr;17(4):362-5. Epub 2007 Nov 2.