| Year |
Citation |
Score |
| 2016 |
Quiles F, Menéndez M, Tornero E, Del Valle J, Teulé À, Palanca S, Izquierdo A, Gómez C, Campos O, Santamaria R, Brunet J, Capellá G, Feliubadaló L, Lázaro C. Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA. Breast Cancer Research and Treatment. PMID 26780556 DOI: 10.1007/s10549-015-3676-9 |
0.412 |
|
| 2016 |
Santamaria R, Lopez-Aguilera J, De Caldas R, Sanchez-Frias M, Garcia-Rios A, Buendia P, Aljama P. [PP.11.12] VASCULAR ABNORMALITIES AS PREDOMINANT FEATURE IN ALAGILLE SYNDROME PATIENTS WITH A NOVEL MUTATION IN JAG1 GENE. Journal of Hypertension. 34: e180. DOI: 10.1097/01.hjh.0000491840.80932.a6 |
0.475 |
|
| 2015 |
López E, Casasnovas C, Giménez J, Santamaría R, Terrazas JM, Volpini V. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. Journal of the Neurological Sciences. PMID 26403765 DOI: 10.1016/j.jns.2015.08.1529 |
0.498 |
|
| 2008 |
Santamaria R, Vilageliu L, Grinberg D. SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. Bmc Research Notes. 1: 137. PMID 19114006 DOI: 10.1186/1756-0500-1-137 |
0.673 |
|
| 2008 |
Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Human Mutation. 29: E58-67. PMID 18429048 DOI: 10.1002/Humu.20776 |
0.818 |
|
| 2008 |
Zafeiriou DI, Vargiami E, Papadopoulou K, Dimitriou E, Mavridou I, Santamaria R, Canals I, Michelakakis H. 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. PMID 17881260 DOI: 10.1016/J.Ejpn.2007.07.015 |
0.366 |
|
| 2007 |
Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. Journal of Lipid Research. 48: 2275-82. PMID 17664528 DOI: 10.1194/Jlr.M700308-Jlr200 |
0.791 |
|
| 2007 |
Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabás A. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clinical Genetics. 72: 109-11. PMID 17661814 DOI: 10.1111/J.1399-0004.2007.00843.X |
0.761 |
|
| 2007 |
Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clinical Genetics. 71: 273-9. PMID 17309651 DOI: 10.1111/J.1399-0004.2007.00767.X |
0.792 |
|
| 2006 |
Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. 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. PMID 16941474 DOI: 10.1002/Humu.9451 |
0.814 |
|
| 2006 |
Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sanchez G, Gort L, Chabas A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease. Journal of Inherited Metabolic Disease. 29: 591. PMID 16830265 DOI: 10.1007/S10545-006-0316-X |
0.791 |
|
| 2005 |
Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Molecular Genetics and Metabolism. 86: 206-11. PMID 16125993 DOI: 10.1016/J.Ymgme.2005.07.004 |
0.756 |
|
| 2005 |
Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells, Molecules & Diseases. 35: 253-8. PMID 15967693 DOI: 10.1016/J.Bcmd.2005.04.007 |
0.745 |
|
| 2005 |
Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Human Genetics. 117: 275-7. PMID 15856305 DOI: 10.1007/S00439-005-1288-X |
0.733 |
|
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