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Results: 1 to 20 of 336

1.

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.

Viñas-Jornet M, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Baena N, San J, Ruiz A, Coll MD, Novell R, Guitart M.

Mol Genet Genomic Med. 2014 Nov;2(6):512-21. doi: 10.1002/mgg3.105. Epub 2014 Aug 18.

PMID:
25614873
[PubMed]
2.

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

Campuzano O, Sarquella-Brugada G, Mademont-Soler I, Allegue C, Cesar S, Ferrer-Costa C, Coll M, Mates J, Iglesias A, Brugada J, Brugada R.

PLoS One. 2014 Dec 10;9(12):e114894. doi: 10.1371/journal.pone.0114894. eCollection 2014.

PMID:
25494010
[PubMed - as supplied by publisher]
Free PMC Article
3.

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

Campuzano O, Sanchez-Molero O, Allegue C, Coll M, Mademont-Soler I, Selga E, Ferrer-Costa C, Mates J, Iglesias A, Sarquella-Brugada G, Cesar S, Brugada J, Castellà J, Medallo J, Brugada R.

Forensic Sci Int. 2014 Oct 14;245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. [Epub ahead of print]

PMID:
25447171
[PubMed - as supplied by publisher]
4.

Cross-modal repetition effects in the mu rhythm indicate tactile mirroring during action observation.

Coll MP, Bird G, Catmur C, Press C.

Cortex. 2014 Sep 11;63C:121-131. doi: 10.1016/j.cortex.2014.08.024. [Epub ahead of print]

PMID:
25282051
[PubMed - as supplied by publisher]
5.

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

Macías-Vidal J, Girós M, Guerrero M, Gascón P, Serratosa J, Bachs O, Coll MJ.

FEBS J. 2014 Oct;281(19):4450-66. doi: 10.1111/febs.12954. Epub 2014 Aug 21.

PMID:
25131710
[PubMed - indexed for MEDLINE]
6.

A theoretically-guided optimization of a new family of modular P,S-ligands for iridium-catalyzed hydrogenation of minimally functionalized olefins.

Margalef J, Caldentey X, Karlsson EA, Coll M, Mazuela J, Pàmies O, Diéguez M, Pericàs MA.

Chemistry. 2014 Sep 15;20(38):12201-14. doi: 10.1002/chem.201402978. Epub 2014 Aug 5.

PMID:
25098759
[PubMed - in process]
7.

The role of clinical, genetic and segregation evaluation in sudden infant death.

Campuzano O, Allegue C, Sarquella-Brugada G, Coll M, Mates J, Alcalde M, Ferrer-Costa C, Iglesias A, Brugada J, Brugada R.

Forensic Sci Int. 2014 Sep;242:9-15. doi: 10.1016/j.forsciint.2014.06.007. Epub 2014 Jun 13.

PMID:
25016126
[PubMed - in process]
8.

Structural analysis and mutant growth properties reveal distinctive enzymatic and cellular roles for the three major L-alanine transaminases of Escherichia coli.

Peña-Soler E, Fernandez FJ, López-Estepa M, Garces F, Richardson AJ, Quintana JF, Rudd KE, Coll M, Vega MC.

PLoS One. 2014 Jul 11;9(7):e102139. doi: 10.1371/journal.pone.0102139. eCollection 2014.

PMID:
25014014
[PubMed - in process]
Free PMC Article
9.

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.

Couce ML, Macías-Vidal J, Castiñeiras DE, Bóveda MD, Fraga JM, Fernández-Marmiesse A, Coll MJ.

Eur J Med Genet. 2014 Sep;57(9):527-31. doi: 10.1016/j.ejmg.2014.06.005. Epub 2014 Jun 30.

PMID:
24993898
[PubMed - in process]
10.

The future of the oceans past: towards a global marine historical research initiative.

Schwerdtner Máñez K, Holm P, Blight L, Coll M, MacDiarmid A, Ojaveer H, Poulsen B, Tull M.

PLoS One. 2014 Jul 2;9(7):e101466. doi: 10.1371/journal.pone.0101466. eCollection 2014.

PMID:
24988080
[PubMed - in process]
Free PMC Article
11.

Global patterns in ecological indicators of marine food webs: a modelling approach.

Heymans JJ, Coll M, Libralato S, Morissette L, Christensen V.

PLoS One. 2014 Apr 24;9(4):e95845. doi: 10.1371/journal.pone.0095845. eCollection 2014.

PMID:
24763610
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.

Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20.

PMID:
24726177
[PubMed - indexed for MEDLINE]
Free Article
13.

[Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis].

Amado-Puentes A, Blanco-Barca Ó, Coll MJ, Sobrido MJ.

Rev Neurol. 2014 Apr 16;58(8):382-3. Spanish.

PMID:
24723181
[PubMed - indexed for MEDLINE]
Free Article
14.

The biliary epithelium gives rise to liver progenitor cells.

Rodrigo-Torres D, Affò S, Coll M, Morales-Ibanez O, Millán C, Blaya D, Alvarez-Guaita A, Rentero C, Lozano JJ, Maestro MA, Solar M, Arroyo V, Caballería J, van Grunsven LA, Enrich C, Ginès P, Bataller R, Sancho-Bru P.

Hepatology. 2014 Oct;60(4):1367-77. doi: 10.1002/hep.27078. Epub 2014 Aug 21.

PMID:
24700364
[PubMed - in process]
15.

Highly versatile Pd-thioether-phosphite catalytic systems for asymmetric allylic alkylation, amination, and etherification reactions.

Coll M, Pàmies O, Diéguez M.

Org Lett. 2014 Apr 4;16(7):1892-5. doi: 10.1021/ol500758y. Epub 2014 Mar 24.

PMID:
24661010
[PubMed - indexed for MEDLINE]
16.

Efficacy of indigenous predatory mites (Acari: Phytoseiidae) against the citrus rust mite Phyllocoptruta oleivora (Acari: Eriophyidae): augmentation and conservation biological control in Israeli citrus orchards.

Maoz Y, Gal S, Argov Y, Domeratzky S, Melamed E, Gan-Mor S, Coll M, Palevsky E.

Exp Appl Acarol. 2014 Jul;63(3):295-312. doi: 10.1007/s10493-014-9786-y. Epub 2014 Mar 13.

PMID:
24623155
[PubMed - indexed for MEDLINE]
17.

Structural basis for DNA binding specificity by the auxin-dependent ARF transcription factors.

Boer DR, Freire-Rios A, van den Berg WA, Saaki T, Manfield IW, Kepinski S, López-Vidrieo I, Franco-Zorrilla JM, de Vries SC, Solano R, Weijers D, Coll M.

Cell. 2014 Jan 30;156(3):577-89. doi: 10.1016/j.cell.2013.12.027.

PMID:
24485461
[PubMed - indexed for MEDLINE]
18.

Assessing fishing and marine biodiversity changes using fishers' perceptions: the Spanish Mediterranean and Gulf of Cadiz case study.

Coll M, Carreras M, Ciércoles C, Cornax MJ, Gorelli G, Morote E, Sáez R.

PLoS One. 2014 Jan 22;9(1):e85670. doi: 10.1371/journal.pone.0085670. eCollection 2014.

PMID:
24465644
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Thread insertion of a bis(dipyridophenazine) diruthenium complex into the DNA double helix by the extrusion of AT base pairs and cross-linking of DNA duplexes.

Boer DR, Wu L, Lincoln P, Coll M.

Angew Chem Int Ed Engl. 2014 Feb 10;53(7):1949-52. doi: 10.1002/anie.201308070. Epub 2014 Jan 21.

PMID:
24449275
[PubMed - indexed for MEDLINE]
20.

CCL20 mediates lipopolysaccharide induced liver injury and is a potential driver of inflammation and fibrosis in alcoholic hepatitis.

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

Gut. 2014 Nov;63(11):1782-92. doi: 10.1136/gutjnl-2013-306098. Epub 2014 Jan 10.

PMID:
24415562
[PubMed - indexed for MEDLINE]
Free PMC Article

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