Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms
Sanchis Calvo A, Cerveró Martí L, Martínez Frías ML. An Pediatr (Barc). 2008 Nov;69(5):496-7. Spanish
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Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications
Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML. Med Clin (Barc). 2008 Nov 29;131(19):741
A small and active ring X chromosome in a female with features of Kabuki syndrome
Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21
Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum
Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. An Pediatr (Barc). 2008 Oct;69(4):304-10. Spanish
