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Items: 1 to 20 of 106

1.

Left ventricular myocardial dysfunction in arrhythmogenic cardiomyopathy with left ventricular involvement: A door to improving diagnosis.

Vives-Gilabert Y, Sanz-Sánchez J, Molina P, Cebrián A, Igual B, Calvillo-Batllés P, Domingo D, Millet J, Martínez-Dolz L, Castells F, Zorio E.

Int J Cardiol. 2018 Sep 10. pii: S0167-5273(18)33417-X. doi: 10.1016/j.ijcard.2018.09.024. [Epub ahead of print]

2.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

PMID:
29656860
3.

Peritonitis caused by Blastomonas natatoria in a patient submitted to peritoneal dyalisis.

Soler T, Santos B, Mayor L, Fernández A, Sánchez JA, Cardeñoso L, Domingo D.

Rev Esp Quimioter. 2018 Apr;31(2):175-177. Epub 2018 Apr 2. No abstract available.

4.

[Cerebrospinal fluid shunt-associated meningitis caused by Gordonia sputi: case report and review of the literature].

Martín D, Barrios A, Domingo D, Sánchez P, Sánchez M, Ruiz-Dassy A, Miqueleiz A, Sanz J.

Infez Med. 2017 Jun 1;25(2):174-178. Review.

5.

Pleural effusion after intravesical administration of bacillus Calmette-Guérin.

Roca Noval A, Cisneros C, García-Pérez FJ, Domingo D.

Arch Bronconeumol. 2017 Dec;53(12):694-695. doi: 10.1016/j.arbres.2017.03.020. Epub 2017 May 3. English, Spanish. No abstract available.

6.

RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism.

Wang YY, Mesirca P, Marqués-Sulé E, Zahradnikova A Jr, Villejoubert O, D'Ocon P, Ruiz C, Domingo D, Zorio E, Mangoni ME, Benitah JP, Gómez AM.

JCI Insight. 2017 Apr 20;2(8). pii: 91872. doi: 10.1172/jci.insight.91872. [Epub ahead of print]

7.

USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.

Bridges CR, Tan MC, Premarathne S, Nanayakkara D, Bellette B, Zencak D, Domingo D, Gecz J, Murtaza M, Jolly LA, Wood SA.

Sci Rep. 2017 Mar 24;7(1):391. doi: 10.1038/s41598-017-00149-0.

8.

Association of the hOCT1/ABCB1 genotype with efficacy and tolerability of imatinib in patients affected by chronic myeloid leukemia.

Galeotti L, Ceccherini F, Domingo D, Laurino M, Polillo M, Di Paolo A, Baratè C, Fava C, D'Avolio A, Cervetti G, Guerrini F, Fontanelli G, Ciabatti E, Grassi S, Arrigoni E, Danesi R, Petrini M, Cornolti F, Saglio G, Galimberti S.

Cancer Chemother Pharmacol. 2017 Apr;79(4):767-773. doi: 10.1007/s00280-017-3271-3. Epub 2017 Mar 13.

PMID:
28289867
9.

[Application of mass spectrometry in mycobacteria].

Alcaide F, Palop-Borrás B, Domingo D, Tudó G.

Enferm Infecc Microbiol Clin. 2016 Jun;34 Suppl 2:31-5. doi: 10.1016/S0213-005X(16)30188-4. Spanish.

PMID:
27389290
10.

Antimicrobial susceptibility of 6 antimicrobial agents in Helicobacter pylori clinical isolates by using EUCAST breakpoints compared with previously used breakpoints.

Alarcón T, Urruzuno P, Martínez MJ, Domingo D, Llorca L, Correa A, López-Brea M.

Enferm Infecc Microbiol Clin. 2017 May;35(5):278-282. doi: 10.1016/j.eimc.2016.02.010. Epub 2016 Mar 24. English, Spanish.

PMID:
27017059
11.

Deregulated hepatic microRNAs underlie the association between non-alcoholic fatty liver disease and coronary artery disease.

Braza-Boïls A, Marí-Alexandre J, Molina P, Arnau MA, Barceló-Molina M, Domingo D, Girbes J, Giner J, Martínez-Dolz L, Zorio E.

Liver Int. 2016 Aug;36(8):1221-9. doi: 10.1111/liv.13097. Epub 2016 Mar 23.

PMID:
26901384
12.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.

Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.

13.

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Nunn LM, Lopes LR, Syrris P, Murphy C, Plagnol V, Firman E, Dalageorgou C, Zorio E, Domingo D, Murday V, Findlay I, Duncan A, Carr-White G, Robert L, Bueser T, Langman C, Fynn SP, Goddard M, White A, Bundgaard H, Ferrero-Miliani L, Wheeldon N, Suvarna SK, O'Beirne A, Lowe MD, McKenna WJ, Elliott PM, Lambiase PD.

Europace. 2016 Jun;18(6):888-96. doi: 10.1093/europace/euv285. Epub 2015 Oct 25.

14.

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, Mazuelos F, Cózar R, Gimeno JR, Heras RP, Monserrat L, Domingo D, Ortiz-Genga M, Fernández Pastor J, Álvarez M, Tercedor L.

Am J Cardiol. 2015 Sep 15;116(6):894-9. doi: 10.1016/j.amjcard.2015.06.030. Epub 2015 Jun 27.

PMID:
26189708
15.

Sensitivity and negative predictive value of treadmill exercise stress testing for the diagnosis of catecholaminergic polymorphic ventricular tachycardia. Response.

Domingo D, López-Vilella R, Arnau MÁ, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Jun;68(6):546-7. doi: 10.1016/j.rec.2015.02.011. Epub 2015 May 1. No abstract available.

PMID:
25936659
16.

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J.

Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3.

PMID:
25740848
17.

The genetic background of left ventricular hypertrabeculation/noncompaction remains vague. Response.

Rodríguez-Serrano M, Domingo D, Igual B, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Feb;68(2):167-8. doi: 10.1016/j.rec.2014.10.001. Epub 2014 Dec 15. No abstract available.

PMID:
25522834
18.

Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.

Domingo D, Neco P, Fernández-Pons E, Zissimopoulos S, Molina P, Olagüe J, Suárez-Mier MP, Lai FA, Gómez AM, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 May;68(5):398-407. doi: 10.1016/j.rec.2014.04.023. Epub 2014 Nov 29.

PMID:
25440180
19.

A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia.

Domingo D, López-Vilella R, Arnau MÁ, Cano Ó, Fernández-Pons E, Zorio E.

Rev Esp Cardiol (Engl Ed). 2015 Jan;68(1):71-3. doi: 10.1016/j.rec.2014.07.022. Epub 2014 Nov 27. No abstract available.

PMID:
25435091
20.

Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

Rodríguez-Serrano M, Domingo D, Igual B, Cano A, Medina P, Zorio E.

Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):857-9. doi: 10.1016/j.rec.2014.05.015. Epub 2014 Sep 5. No abstract available.

PMID:
25201647

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