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Items: 1 to 20 of 371

1.

[New mutation described in a young woman with splenomegaly, diagnosed with Niemann-Pick disease type C].

Lario A, de Miguel C, Ojeda E, Gil S, Coll MJ, Alfonso P.

Med Clin (Barc). 2016 Mar 22. pii: S0025-7753(16)00089-0. doi: 10.1016/j.medcli.2016.01.031. [Epub ahead of print] Spanish.

PMID:
27016452
2.

Neutrophil gelatinase-associated lipocalin is a biomarker of acute-on-chronic liver failure and prognosis in cirrhosis.

Ariza X, Graupera I, Coll M, Solà E, Barreto R, García E, Moreira R, Elia C, Morales-Ruiz M, Llopis M, Huelin P, Solé C, Fabrellas N, Weiss E, Nevens F, Gerbes A, Trebicka J, Saliba F, Fondevila C, Hernández-Gea V, Fernández J, Bernardi M, Arroyo V, Jiménez W, Deulofeu C, Pavesi M, Angeli P, Jalan R, Moreau R, Sancho-Bru P, Ginès P.

J Hepatol. 2016 Mar 14. pii: S0168-8278(16)30029-0. doi: 10.1016/j.jhep.2016.03.002. [Epub ahead of print]

PMID:
26988732
3.

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

Pineda M, O'Callaghan M, Fernandez Lopez A, Coll MJ, Ullot R, Garcia-Fructuoso G.

JIMD Rep. 2016 Feb 27. [Epub ahead of print]

PMID:
26920906
4.

Conformational plasticity of RepB, the replication initiator protein of promiscuous streptococcal plasmid pMV158.

Boer DR, Ruiz-Masó JA, Rueda M, Petoukhov MV, Machón C, Svergun DI, Orozco M, Del Solar G, Coll M.

Sci Rep. 2016 Feb 15;6:20915. doi: 10.1038/srep20915.

5.

Duodenal fistula after gastrectomy: Retrospective study of 13 new cases.

Cornejo MÁ, Priego P, Ramos D, Coll M, Ballestero A, Galindo J, García-Moreno F, Rodríguez G, Carda P, Lobo E.

Rev Esp Enferm Dig. 2016 Jan;108(1):20-6.

6.

Comparative study between open and minimally invasive approach in the surgical management of esophageal leiomyoma.

Ramos D, Priego P, Coll M, Cornejo Mde L, Galindo J, Rodríguez Velasco G, García-Moreno F, Carda P, Lobo E.

Rev Esp Enferm Dig. 2016 Jan;108(1):8-14.

7.

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

Campuzano O, Fernández-Falgueras A, Sarquella-Brugada G, Sanchez O, Cesar S, Mademont I, Allegue C, Mates J, Pérez-Serra A, Coll M, Alcalde M, Iglesias A, Tiron C, Gallego MÁ, Ferrer-Costa C, Hospital A, Escribano C, Dasí C, Borondo JC, Castellà J, Arbelo E, Medallo J, Brugada J, Brugada R.

J Am Coll Cardiol. 2015 Dec 29;66(25):2913-4. doi: 10.1016/j.jacc.2015.10.049. No abstract available.

PMID:
26718681
8.

Chemokine Receptor Ccr6 Deficiency Alters Hepatic Inflammatory Cell Recruitment and Promotes Liver Inflammation and Fibrosis.

Affò S, Rodrigo-Torres D, Blaya D, Morales-Ibanez O, Coll M, Millán C, Altamirano J, Arroyo V, Caballería J, Bataller R, Ginès P, Sancho-Bru P.

PLoS One. 2015 Dec 21;10(12):e0145147. doi: 10.1371/journal.pone.0145147. eCollection 2015.

9.

Stem cell-derived hepatocytes: A novel model for hepatitis E virus replication.

Helsen N, Debing Y, Paeshuyse J, Dallmeier K, Boon R, Coll M, Sancho-Bru P, Claes C, Neyts J, Verfaillie CM.

J Hepatol. 2016 Mar;64(3):565-73. doi: 10.1016/j.jhep.2015.11.013. Epub 2015 Nov 25.

10.

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

Campuzano O, Sanchez-Molero O, Mademont-Soler I, Riuró H, Allegue C, Coll M, Pérez-Serra A, Mates J, Picó F, Iglesias A, Brugada R.

Int J Mol Sci. 2015 Oct 27;16(10):25773-87. doi: 10.3390/ijms161025773.

11.

Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.

Macías-Vidal J, Guerrero-Hernández M, Estanyol JM, Aguado C, Knecht E, Coll MJ, Bachs O.

Proteomics. 2016 Jan;16(1):150-8. doi: 10.1002/pmic.201500110. Epub 2015 Dec 15.

PMID:
26507101
12.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A.

Hum Mutat. 2016 Feb;37(2):139-47. doi: 10.1002/humu.22923. Epub 2015 Dec 1.

PMID:
26499107
13.

Emergent Properties Delineate Marine Ecosystem Perturbation and Recovery.

Link JS, Pranovi F, Libralato S, Coll M, Christensen V, Solidoro C, Fulton EA.

Trends Ecol Evol. 2015 Nov;30(11):649-61. doi: 10.1016/j.tree.2015.08.011. Epub 2015 Oct 5. Review.

PMID:
26456382
14.

[Flow mediated vasodilation in overweight children].

Rodríguez D, Coll M, Guerrero R, Henao L.

Rev Chil Pediatr. 2015 Nov-Dec;86(6):410-4. doi: 10.1016/j.rchipe.2015.07.019. Epub 2015 Oct 9. Spanish.

15.

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.

Coll M, Allegue C, Partemi S, Mates J, Del Olmo B, Campuzano O, Pascali V, Iglesias A, Striano P, Oliva A, Brugada R.

Int J Legal Med. 2016 Mar;130(2):331-9. doi: 10.1007/s00414-015-1269-0. Epub 2015 Sep 30.

PMID:
26423924
16.

Genome-wide analysis of DNA methylation and gene expression patterns in purified, uncultured human liver cells and activated hepatic stellate cells.

El Taghdouini A, Sørensen AL, Reiner AH, Coll M, Verhulst S, Mannaerts I, Øie CI, Smedsrød B, Najimi M, Sokal E, Luttun A, Sancho-Bru P, Collas P, van Grunsven LA.

Oncotarget. 2015 Sep 29;6(29):26729-45. doi: 10.18632/oncotarget.4925.

17.

Assessment of Liver Fibrotic Insults In Vitro.

Perea L, Coll M, Sancho-Bru P.

Methods Mol Biol. 2015;1250:391-401. doi: 10.1007/978-1-4939-2074-7_30.

PMID:
26272160
18.

Polarization Switching and Light-Enhanced Piezoelectricity in Lead Halide Perovskites.

Coll M, Gomez A, Mas-Marza E, Almora O, Garcia-Belmonte G, Campoy-Quiles M, Bisquert J.

J Phys Chem Lett. 2015 Apr 16;6(8):1408-13. doi: 10.1021/acs.jpclett.5b00502. Epub 2015 Apr 2.

PMID:
26263143
19.

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

Pajares S, Arias A, García-Villoria J, Macías-Vidal J, Ros E, de las Heras J, Girós M, Coll MJ, Ribes A.

J Lipid Res. 2015 Oct;56(10):1926-35. doi: 10.1194/jlr.M060343. Epub 2015 Aug 3.

PMID:
26239048
20.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R.

PLoS One. 2015 Jul 31;10(7):e0133037. doi: 10.1371/journal.pone.0133037. eCollection 2015.

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