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
Direct tandem duplication in chromosome 19q characterized by array CGH
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Eur J Med Genet. 2008 May-Jun;51(3):257-63. Epub 2008 Feb 2
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
Venceslá A, Corral-Rodríguez MA, Baena M, Cornet M, Domènech M, Baiget M, Fuentes-Prior P, Tizzano EF. Blood. 2008 Apr 1;111(7):3468-78. Epub 2008 Jan 9
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype
Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Eur J Hum Genet. 2008 Dec;16(12):1443-9
