Publicaciones

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Hum…

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

Mietens-Weber syndrome: two new patients and a review

Martínez-Glez V, Lapunzina P, Delicado A, Tendero A, Mori MA, de Torres ML, Fernández L, Palomares M, Pajares IL. Clin Dysmorphol. 2006 Jul;15(3):175-7

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M. Am J Med Genet A. 2006 Nov 15;140(22):2426-32