Pocovi M - Search Results

1

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, Bermejo N, Guerrero C, Perez de Soto I, Villalón L, Giraldo P, Pocovi M. Irun P, et al. Among authors: pocovi m. Clin Genet. 2013 Oct;84(4):356-61. doi: 10.1111/cge.12076. Epub 2013 Jan 4. Clin Genet. 2013. PMID: 23252888

2

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M; Spanish NP-C Group. De Castro-Orós I, et al. Among authors: pocovi m. J Transl Med. 2017 Feb 21;15(1):43. doi: 10.1186/s12967-017-1146-3. J Transl Med. 2017. PMID: 28222799 Free PMC article.

3

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.

García-Rodríguez B, Alfonso P, Mallén M, Pocoví M, Giraldo P. García-Rodríguez B, et al. Among authors: pocovi m. Clin Genet. 2012 May;81(5):495-7. doi: 10.1111/j.1399-0004.2011.01757.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22220748 No abstract available.

4

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.

Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M. Irún P, et al. Among authors: pocovi m. Clin Biochem. 2013 Dec;46(18):1804-7. doi: 10.1016/j.clinbiochem.2013.09.006. Epub 2013 Sep 20. Clin Biochem. 2013. PMID: 24060732

5

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.

Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P; Spanish Gaucher’s Disease Registry. Alfonso P, et al. Among authors: pocovi m. J Hum Genet. 2007;52(5):391-396. doi: 10.1007/s10038-007-0135-4. Epub 2007 Apr 11. J Hum Genet. 2007. PMID: 17427031 Review.

6

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M. Alfonso P, et al. Among authors: pocovi m. Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16. Clin Chim Acta. 2011. PMID: 21087600

7

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, Capablo JL, Rodriguez-Rey JC, Pocovi M, Giraldo P. Gervas-Arruga J, et al. Among authors: pocovi m. BMC Genet. 2015 Sep 3;16:109. doi: 10.1186/s12863-015-0267-z. BMC Genet. 2015. PMID: 26334996 Free PMC article.

8

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.

Sarria AJ, Giraldo P, Perez-Calvo JI, Pocoví M. Sarria AJ, et al. Among authors: pocovi m. Hum Mutat. 1999;14(1):88. doi: 10.1002/(sici)1098-1004(1999)14:1<88::aid-humu16>3.0.co;2-e. Hum Mutat. 1999. PMID: 10447266

9

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, Irún P, Rodríguez-Rey JC, Pocoví M, España F, Giraldo P. Alfonso P, et al. Among authors: pocovi m. Hum Mutat. 2013 Oct;34(10):1396-403. doi: 10.1002/humu.22381. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23913449

10

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.

Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M. Alfonso P, et al. Among authors: pocovi m. Blood Cells Mol Dis. 2001 Sep-Oct;27(5):882-91. doi: 10.1006/bcmd.2001.0461. Blood Cells Mol Dis. 2001. PMID: 11783951

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