PubMed

Hakan N, Eminoglu FT, Aydin M, Zenciroglu A, Karadag NN, Dursun A, Okumus N, Ceylaner S.

Congenit Anom (Kyoto). 2012 Dec;52(4):216-8. doi: 10.1111/j.1741-4520.2012.00360.x.

Dessì A, Fanos V, Crisponi G, Frau A, Ottonello G.

J Obstet Gynaecol Res. 2012 Mar;38(3):582-5. doi: 10.1111/j.1447-0756.2011.01741.x. Epub 2012 Feb 16.

Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA.

Clin Dysmorphol. 2011 Oct;20(4):187-9. doi: 10.1097/MCD.0b013e328348836c.

Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F.

Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16.

Di Leo R, Nolano M, Boman H, Pierangeli G, Provitera V, Knappskog PM, Cortelli P, Vita G, Rodolico C.

Neurology. 2010 Oct 26;75(17):1567-9. doi: 10.1212/WNL.0b013e3181f96237. No abstract available.

Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H.

J Neurol Sci. 2010 Jun 15;293(1-2):68-75. doi: 10.1016/j.jns.2010.02.028. Epub 2010 Apr 18.

Herholz J, Crisponi L, Mallick BN, Rutsch F.

Dev Med Child Neurol. 2010 May;52(5):494-7. doi: 10.1111/j.1469-8749.2010.03630.x. Epub 2010 Feb 24. No abstract available.

Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y.

Am J Med Genet A. 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315.

Okur I, Tumer L, Crisponi L, Eminoglu FT, Chiappe F, Cinaz P, Yenicesu I, Hasanoglu A.

Am J Med Genet A. 2008 Dec 15;146A(24):3237-9. doi: 10.1002/ajmg.a.32531. No abstract available.

Thomas N, Danda S, Kumar M, Jana AK, Crisponi G, Meloni A, Crisponi L.

Am J Med Genet A. 2008 Nov 1;146A(21):2831-4. doi: 10.1002/ajmg.a.32487. No abstract available.

Della Marca G, Barone G, Vollono C, Dittoni S, Vasta I, Timpani G, Crisponi G, Zampino G.

Sleep Med. 2008 Aug;9(6):703-4. Epub 2007 Oct 24. No abstract available.

Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F.

Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13.

Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG.

J Neurol Sci. 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6.

Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H.

Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. Epub 2006 Jun 16.

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.

Am J Med Genet A. 2005 Feb 15;133A(1):90-2. Review.

Accorsi P, Giordano L, Faravelli F.

Am J Med Genet A. 2003 Dec 1;123A(2):183-5.

Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H.

Am J Hum Genet. 2003 Feb;72(2):375-83. Epub 2002 Dec 31.