Raül Santamaria
Affiliations: | Department of Genetics, Microbiology and Statistics | Universitat de Barcelona, Barcelona, Cataluña, Spain |
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"Raül Santamaria"Parents
Sign in to add mentor| Daniel Grinberg | grad student | Universitat de Barcelona | |
| Lluisa Vilageliu | grad student | Universitat de Barcelona (FlyTree) |
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Publications
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| Quiles F, Menéndez M, Tornero E, et al. (2016) Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA. Breast Cancer Research and Treatment |
| Santamaria R, Lopez-Aguilera J, De Caldas R, et al. (2016) [PP.11.12] VASCULAR ABNORMALITIES AS PREDOMINANT FEATURE IN ALAGILLE SYNDROME PATIENTS WITH A NOVEL MUTATION IN JAG1 GENE. Journal of Hypertension. 34: e180 |
| López E, Casasnovas C, Giménez J, et al. (2015) Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. Journal of the Neurological Sciences |
| Santamaria R, Vilageliu L, Grinberg D. (2008) SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. Bmc Research Notes. 1: 137 |
| Santamaria R, Michelakakis H, Moraitou M, et al. (2008) Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Human Mutation. 29: E58-67 |
| Zafeiriou DI, Vargiami E, Papadopoulou K, et al. (2008) Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 12: 190-4 |
| Santamaria R, Chabás A, Callahan JW, et al. (2007) Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. Journal of Lipid Research. 48: 2275-82 |
| Gort L, Santamaria R, Grinberg D, et al. (2007) Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clinical Genetics. 72: 109-11 |
| Santamaria R, Blanco M, Chabás A, et al. (2007) Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clinical Genetics. 71: 273-9 |
| Santamaria R, Chabás A, Coll MJ, et al. (2006) Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Human Mutation. 27: 1060 |