2007 - Instituto de Investigación Sanitaria La Fe

Dressman D, Ahearn ME, Yariz KO, Basterrecha H,Martínez F, Palau F, Barmada MM, Clark RD, MeindlA, Wirth B, Hoffman EP, Baumbach-Reardon L. “Xlinkedinfantile spinal muscular atrophy: Clinical definitionand molecular mapping”. Genetics in Medicine9(1): 52-60 (2007). 3,427.C. Orellana, S. Monfort, M. Roselló, S. Oltra, F. Martínez.“Clinical findings and molecular characterisationof six subtelomeric imbalances”. Clinical Genetics71 (5): 474-9 (2007). 3,14.S. Monfort, D. Blesa, M. Roselló, C. Orellana, S. Oltra,JC Cigudosa, F. Martínez. “Duplication of 14q11.2associates with short stature and mild mental retardation:A putative relation with quantitative trait loci”.Am J Med Genet 143 (4): 382-4 (2007). 2,063.Madrigal I, Rodríguez-Revenga L, Badenas C, SanchezA, Martinez F, Fernández I, Fernández-BurielM, Mila M. “MLPA as first screening method for thedetection of microduplications and microdeletions inpatients with X-linked mental retardation”. Geneticsin Medicine 9 (2): 117-122 (2007). 3,427.J. Pantoja-Martínez, F. Martínez-Castellano, I. Tarazona-Casany,E. Buesa-Ibáñez, M. Ardid-Encinar,M.A. Esparza-Sánchez, J. Bonet Arzo. “Síndrome dedeleción de genes contiguos en Xp21: asociación dedeficiencia de glicerolcinasa, hipoplasia suprarrenalcongénita y distrofia muscular de Duchenne”. RevNeurol 44 (10): 606-609 (2007). 0,528.M. Roselló, S. Monfort, C. Orellana, S. Oltra, I. Martínez-Garay,F. Martínez. “Deleción subtelomérica9qter: definición del síndrome y origen parental en 2pacientes”. Med. Clin (Barc.) 28 (11): 419-21 (2007).1,327.I Madrigal, L Rodríguez-Revenga, L Armengol, EGonzález, B Rodríguez, C Badenas, A Sánchez, FMartínez, M Guitart, I Fernández, JA Arranz, MI Tejada,LA Pérez-Jurado, X Estivill, M Milà. “X-chromosometiling path array detection of copy number variantsin patients with chromosome X-linked mentalretardation”. BMC Genomics 8: 443 (2007). 4,029.Sánchez-Sánchez F, Ramírez-Castillejo C, WeekesDB, Beneyto M, Prieto F, Najera C, Mittnacht S. “Attenuationof disease phenotype through alternativetranslation initiation in low-penetrance retinoblastoma”.Hum Mutat 28 (2): 159-67 ( 2007). 6,473.Haya S, Moret A, Cid AR, Cortina V, Casaña P, CabreraN, Aznar JA. “Inhibitors in haemophilia A: currentmanagement and open issues”. Haemophilia13 (Suppl 5): 52-60. Review (2007). 3,073.Cid AR, Zorio E, Haya S, Zúñiga P, Rueda J, CasañaP, Cabrera N, Arnau MA, Aznar JA. “Treatment in ahaemophiliac A patient with paroxysmal atrial fibrillationand ischemic heart disease”. Haemophilia 13(6): 760-2 (2007). 3,073.Cid AR, Casaña P, Cabrera N, Haya S, Cortina V,Aznar JA. “Inhibitor development in one patient andlaboratory discrepancies in several families with bothmild haemophilia and Arg531Cys mutation”. Haemophilia13 (2): 206-8 (2007). 3,073.Viprey VF, Corrias MV, Kagedal B, Oltra S, Swerts K,Vicha A, Ladenstein R, Burchill SA. “Standardisationof operating procedures for the detection of minimaldisease by QRT-PCR in children with neuroblastoma:quality assurance on behalf of SIOPEN-R-NET”. Eur JCancer 43 (2): 341-50 (2007). 4,167.Castel V, Grau E, Noguera R, Martínez F. “Molecularbiology of neuroblastoma”. Clin Transl Oncol 9 (8):478-83 (2007).71 - Memoria 2007