Laurin-Sandrow syndrome: review and redefinition
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. Review
Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome
Tejada MI, García-Alegría E, Bilbao A, Martínez-Bouzas C, Beristain E, Poch M, Ramos-Arroyo MA, López B, Fernandez Carvajal I, Ribate MP, Ramos F. Menopause. 2008 Sep-Oct;15(5):945-9
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis
Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. Epub 2008 Sep 5
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene
Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Haemophilia. 2008 Sep;14(5):1094-8. Epub 2008 Jul 25. Review
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Hum Mutat. 2008 Jul;29(7):931-8
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Am J Med Genet A. 2008 May 1;146A(9):1134-4157
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
