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
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.BMC Med Genet. 2007 Apr 2;8:14
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M. Clin Genet. 2008 Apr;73(4):360-6. Epub 2008 Feb 20
