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

Septiembre 1, 2009

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. Epub 2009 Sep 10

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome

Agosto 1, 2009

Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695

Unusual four-generation chromosome-22 rearrangement: when “normality” masks abnormality

Julio 1, 2009

Nevado J, de Torres ML, Fernández L, Mori MA, Villa A, Palomares M, García-Santiago F, Mansilla E, García-Miñaur S, Delicado A, Lapunzina P. Am J Med Genet A. 2009 Jul;149A(7):1561-4. No abstract available

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

Junio 1, 2009

Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H. Eur J Neurol. 2010 Jan;17(1):160-2. Epub 2009 Jun 15