Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect
López-Expósito I, Bafalliu JA, Santos M, Fuster C, Puche-Mira A, Guillén-Navarro E. Am J Med Genet A. 2008 May 1;146A(9):1190-4
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA. BMC Med Genet. 2008 Apr 11;9:27
Double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
Torrioli MG, Vernacotola S, Peruzzi L, Tabolacci E, Mila M, Militerni R, Musumeci S, Ramos FJ, Frontera M, Sorge G, Marzullo E, Romeo G, Vallee L, Veneselli E, Cocchi E, Garbarino E, Moscato U, Chiurazzi P, D’Iddio S, Calvani M, Neri G. Am J Med Genet A. 2008 Apr 1;146(7):803-12
Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A
Venceslá A, Baena M, Fares Taie L, Cornet M, Baiget M, Tizzano EF. Haemophilia. 2008 May;14(3):489-93. Epub 2008 Apr 1
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome
Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Eur J Med Genet. 2008 May-Jun;51(3):268-71. Epub 2008 Mar 4
Schimke immunoosseous dysplasia: suggestions of genetic diversity
Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro…
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Hum Mutat. 2008 Feb;29(2):248-57
Type I neurofibromatosis and school phobia
Morán Sánchez I, Concepción Salesa A, Guillén Navarro E, Robles Sánchez F. An Pediatr (Barc). 2008 Feb;68(2):201-2.
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
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M. Behav Brain Funct. 2008 Feb 19;4:10