10 results for author:"Oltra S." in Literature citations
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| Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. Oeffner F., Martinez F., Schaffer J., Salhi A., Monfort S., Oltra S., Neidel U., Bornholdt D., van Bon B., Konig A. et al. Exp. Dermatol. 20:447-449(2011) · Mapped (2) |
| Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease. Grau E., Martinez F., Orellana C., Canete A., Yanez Y., Oltra S., Noguera R., Hernandez M., Bermudez J.D., Castel V. Mol. Carcinog. 50:153-162(2011) · Mapped (3) |
| Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts. Valencia A., Cervera J., Such E., Ibanez M., Gomez I., Luna I., Senent L., Oltra S., Sanz M.A., Sanz G.F. Leuk. Res. 35:479-483(2011) · Mapped (26) |
| Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Camprubi C., Guitart M., Gabau E., Coll M.D., Villatoro S., Oltra S., Rosello M., Ferrer I., Monfort S., Orellana C. et al. Am. J. Med. Genet. A 149A:343-348(2009) · Mapped (7) |
| MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors. Grau E., Oltra S., Martinez F., Orellana C., Canete A., Fernandez J.M., Hernandez-Marti M., Castel V. J. Cancer Res. Clin. Oncol. 135:523-531(2009) · Mapped (3) |
| Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. Aller E., Jaijo T., Beneyto M., Najera C., Oltra S., Ayuso C., Baiget M., Carballo M., Antinolo G., Valverde D. et al. J. Med. Genet. 43:E55-E55(2006) · UniProtKB (1) |
| Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Jaijo T., Aller E., Oltra S., Beneyto M., Najera C., Ayuso C., Baiget M., Carballo M., Antinolo G., Valverde D. et al. Hum. Mutat. 27:290-291(2006) · Mapped (4) |
| The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma. Oltra S., Martinez F., Orellana C., Grau E., Fernandez J.M., Canete A., Castel V. Diagn. Mol. Pathol. 14:53-57(2005) · Mapped (4) |
| Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Aller E., Jaijo T., Oltra S., Alio J., Galan F., Najera C., Beneyto M., Millan J.M. Clin. Genet. 66:525-529(2004) · UniProtKB (1) |
| Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. Martinez-Garay I., Ballesta M.J., Oltra S., Orellana C., Palomeque A., Molto M.D., Prieto F., Martinez F. Clin. Genet. 64:491-496(2003) · UniProtKB (1) |