Sobrido MJ - Search Results

1

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).

Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ. Maarouf H, et al. Among authors: sobrido mj. BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4. BMC Med Inform Decis Mak. 2017. PMID: 29207981 Free PMC article.

2

Automated semantic annotation of rare disease cases: a case study.

Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ. Taboada M, et al. Among authors: sobrido mj. Database (Oxford). 2014 Jun 4;2014:bau045. doi: 10.1093/database/bau045. Print 2014. Database (Oxford). 2014. PMID: 24903515 Free PMC article.

3

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.

Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, Robinson PN, Sobrido MJ. Taboada M, et al. Among authors: sobrido mj. BMC Med Inform Decis Mak. 2012 Jul 31;12:78. doi: 10.1186/1472-6947-12-78. BMC Med Inform Decis Mak. 2012. PMID: 22849591 Free PMC article.

4

SNOMED CT module-driven clinical archetype management.

Allones JL, Taboada M, Martinez D, Lozano R, Sobrido MJ. Allones JL, et al. Among authors: sobrido mj. J Biomed Inform. 2013 Jun;46(3):388-400. doi: 10.1016/j.jbi.2013.01.003. Epub 2013 Feb 9. J Biomed Inform. 2013. PMID: 23402961 Free article.

5

Summarizing phenotype evolution patterns from report cases.

Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ. Taboada M, et al. Among authors: sobrido mj. J Med Syst. 2012 Nov;36 Suppl 1:S25-36. doi: 10.1007/s10916-012-9887-2. Epub 2012 Oct 20. J Med Syst. 2012. PMID: 23085966

6

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.

Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J. Aguiar P, et al. Among authors: sobrido mj. Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10. Mov Disord. 2017. PMID: 27862279

7

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico.

Sesar A, Cacheiro P, López-López M, Camiña-Tato M, Quintáns B, Monroy-Jaramillo N, Alonso-Vilatela ME, Cebrián E, Yescas-Gómez P, Ares B, Rivas MT, Castro A, Carracedo A, Sobrido MJ. Sesar A, et al. Among authors: sobrido mj. J Neurol Sci. 2016 Mar 15;362:321-5. doi: 10.1016/j.jns.2016.02.014. Epub 2016 Feb 8. J Neurol Sci. 2016. PMID: 26944171

8

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Castro-Fernández C, Arias M, Blanco-Arias P, Santomé-Collazo L, Amigo J, Carracedo Á, Sobrido MJ. Castro-Fernández C, et al. Among authors: sobrido mj. Appl Transl Genom. 2015 Jun 26;5:33-6. doi: 10.1016/j.atg.2015.05.005. eCollection 2015 Jun 1. Appl Transl Genom. 2015. PMID: 26937357 Free PMC article.

9

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J. García-Sobrino T, et al. Among authors: sobrido mj. Neuromuscul Disord. 2017 Jul;27(7):667-672. doi: 10.1016/j.nmd.2017.01.008. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28236508

10

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E, Oterino-Durán A, Toriello M, Quintáns B, Camiña-Tato M, Sesar A, Vega A, Sobrido MJ, Salas A. Fachal L, et al. Among authors: sobrido mj. Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):54-65. doi: 10.1002/ajmg.b.32276. Epub 2014 Oct 28. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25349034

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