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Items: 1 to 50 of 117

1.

Genetic Mosaicism in Calmodulinopathy.

Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr.

Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27.

PMID:
31454269
2.

Two novel cases of autosomal recessive Noonan syndrome associated with LZTR1 variants.

Perin F, Trujillo-Quintero JP, Jimenez-Jaimez J, Rodríguez-Vázquez Del Rey MDM, Monserrat L, Tercedor L.

Rev Esp Cardiol (Engl Ed). 2019 Jun 8. pii: S1885-5857(19)30141-0. doi: 10.1016/j.rec.2019.05.002. [Epub ahead of print] English, Spanish. No abstract available.

PMID:
31182298
3.

Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.

Piqueras-Flores J, Trujillo-Quintero JP, Frías-García R, González-Marín MA, Monserrat L, Hernández-Herrera G.

Rev Esp Cardiol (Engl Ed). 2019 Oct;72(10):868-870. doi: 10.1016/j.rec.2019.01.014. Epub 2019 May 1. English, Spanish. No abstract available.

PMID:
31053375
4.

Reply: Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations.

Ochoa JP, Elliott PM, Gimeno JR, Monserrat L.

J Am Coll Cardiol. 2019 Mar 26;73(11):1366-1367. doi: 10.1016/j.jacc.2019.01.022. No abstract available.

PMID:
30898216
5.

Direct CDKN2 Modulation of CDK4 Alters Target Engagement of CDK4 Inhibitor Drugs.

Green JL, Okerberg ES, Sejd J, Palafox M, Monserrat L, Alemayehu S, Wu J, Sykes M, Aban A, Serra V, Nomanbhoy T.

Mol Cancer Ther. 2019 Apr;18(4):771-779. doi: 10.1158/1535-7163.MCT-18-0755. Epub 2019 Mar 5.

PMID:
30837298
6.

Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.

Peña-Peña ML, Monserrat L.

Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):333-340. doi: 10.1016/j.rec.2018.10.017. Epub 2019 Feb 18. English, Spanish.

PMID:
30792015
7.

Response by Sheikh et al to Letter Regarding Article, "Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion".

Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.

Circulation. 2019 Feb 12;139(7):996-997. doi: 10.1161/CIRCULATIONAHA.118.038821. No abstract available.

PMID:
30742527
8.

Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.

Eisen B, Ben Jehuda R, Cuttitta AJ, Mekies LN, Shemer Y, Baskin P, Reiter I, Willi L, Freimark D, Gherghiceanu M, Monserrat L, Scherr M, Hilfiker-Kleiner D, Arad M, Michele DE, Binah O.

J Cell Mol Med. 2019 Mar;23(3):2125-2135. doi: 10.1111/jcmm.14124. Epub 2019 Jan 8.

9.

Modeling Peripartum Cardiomyopathy With Human Induced Pluripotent Stem Cells Reveals Distinctive Abnormal Function of Cardiomyocytes.

Naftali-Shani N, Molotski N, Nevo-Caspi Y, Arad M, Kuperstein R, Amit U, Huber I, Zeltzer LA, Levich A, Abbas H, Monserrat L, Paret G, Leor J.

Circulation. 2018 Dec 4;138(23):2721-2723. doi: 10.1161/CIRCULATIONAHA.118.035950. No abstract available.

PMID:
30571272
10.

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L.

J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001.

11.

Perspectives on current recommendations for genetic testing in HCM.

Monserrat L.

Glob Cardiol Sci Pract. 2018 Aug 12;2018(3):23. doi: 10.21542/gcsp.2018.23. Review. No abstract available.

12.

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.

Smith JGW, Owen T, Bhagwan JR, Mosqueira D, Scott E, Mannhardt I, Patel A, Barriales-Villa R, Monserrat L, Hansen A, Eschenhagen T, Harding SE, Marston S, Denning C.

Stem Cell Reports. 2018 Nov 13;11(5):1226-1243. doi: 10.1016/j.stemcr.2018.10.006. Epub 2018 Nov 1.

13.

Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging.

Mateos J, Fafián-Labora J, Morente-López M, Lesende-Rodriguez I, Monserrat L, Ódena MA, Oliveira E, de Toro J, Arufe MC.

PLoS One. 2018 Oct 31;13(10):e0205878. doi: 10.1371/journal.pone.0205878. eCollection 2018.

14.

Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis.

O'Mahony C, Akhtar MM, Anastasiou Z, Guttmann OP, Vriesendorp PA, Michels M, Magrì D, Autore C, Fernández A, Ochoa JP, Leong KMW, Varnava AM, Monserrat L, Anastasakis A, Garcia-Pavia P, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Omar RZ, Elliott PM.

Heart. 2019 Apr;105(8):623-631. doi: 10.1136/heartjnl-2018-313700. Epub 2018 Oct 26.

PMID:
30366935
15.

The impact of diabetes mellitus on the clinical phenotype of hypertrophic cardiomyopathy.

Wasserstrum Y, Barriales-Villa R, Fernández-Fernández X, Adler Y, Lotan D, Peled Y, Klempfner R, Kuperstein R, Shlomo N, Sabbag A, Freimark D, Monserrat L, Arad M.

Eur Heart J. 2019 Jun 1;40(21):1671-1677. doi: 10.1093/eurheartj/ehy625.

PMID:
30358878
16.

Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings.

Soler R, Méndez C, Rodríguez E, Barriales R, Ochoa JP, Monserrat L.

Insights Imaging. 2018 Dec;9(6):1007-1020. doi: 10.1007/s13244-018-0656-8. Epub 2018 Oct 22. Review.

17.

Differential diagnosis of thickened myocardium: an illustrative MRI review.

Méndez C, Soler R, Rodríguez E, Barriales R, Ochoa JP, Monserrat L.

Insights Imaging. 2018 Oct;9(5):695-707. doi: 10.1007/s13244-018-0655-9. Epub 2018 Oct 9. Review.

18.

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

Riera-Mestre A, Mora Luján JM, Sanchez Martínez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L, López Rodríguez M; en representación de los Investigadores del Registro RiHHTa; Miembros del Registro RiHHTa del Grupo de Trabajo en Enfermedades Minoritarias de la Sociedad Española de Medicina Interna.

Rev Clin Esp. 2018 Dec;218(9):468-476. doi: 10.1016/j.rce.2018.07.002. Epub 2018 Sep 1. English, Spanish.

PMID:
30177223
19.

First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene.

Barriales-Villa R, Ochoa JP, Santomé-Collazo JL, Mosquera-Reboredo J, Cao-Vilariño M, Monserrat L.

Rev Esp Cardiol (Engl Ed). 2019 Jul;72(7):585-587. doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18. English, Spanish. No abstract available.

PMID:
30029973
20.

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.

PMID:
30017653
21.

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Torrado M, Maneiro E, Trujillo-Quintero JP, Evangelista A, Mikhailov AT, Monserrat L.

Biomed Res Int. 2018 May 29;2018:3536495. doi: 10.1155/2018/3536495. eCollection 2018.

22.

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP.

Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. Epub 2018 Apr 26. Review.

23.

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.

Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.

Circulation. 2018 Sep 18;138(12):1184-1194. doi: 10.1161/CIRCULATIONAHA.118.034208.

24.

Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.

Nieto-Marín P, Jiménez-Jáimez J, Tinaquero D, Alfayate S, Utrilla RG, Rodríguez Vázquez Del Rey MDM, Perin F, Sarquella-Brugada G, Monserrat L, Brugada J, Tercedor L, Tamargo J, Delpón E, Caballero R.

Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):324-332. doi: 10.1016/j.rec.2018.03.012. English, Spanish.

PMID:
29691127
25.

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.

Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG.

J Am Coll Cardiol. 2018 Apr 17;71(15):1663-1671. doi: 10.1016/j.jacc.2018.01.078.

26.

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J.

Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6.

PMID:
29212896
27.

Corrigendum: Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FAJ, Mateos J, Arufe MC.

Sci Rep. 2017 Jun 15;7:46850. doi: 10.1038/srep46850.

28.

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G.

Heart. 2017 Nov;103(21):1704-1710. doi: 10.1136/heartjnl-2016-311017. Epub 2017 Apr 17.

PMID:
28416588
29.

Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FJ, Mateos J, Arufe MC.

Sci Rep. 2017 Mar 6;7:43923. doi: 10.1038/srep43923. Erratum in: Sci Rep. 2017 Jun 15;7:46850. Loo, F J Van de [corrected to van de Loo, F J].

30.

Modulation of SHBG binding to testosterone and estradiol by sex and morbid obesity.

Grasa MDM, Gulfo J, Camps N, Alcalá R, Monserrat L, Moreno-Navarrete JM, Ortega FJ, Esteve M, Remesar X, Fernández-López JA, Fernández-Real JM, Alemany M.

Eur J Endocrinol. 2017 Apr;176(4):393-404. doi: 10.1530/EJE-16-0834. Epub 2017 Jan 11.

31.

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L.

J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927.

32.

Predictors of atrial fibrillation in hypertrophic cardiomyopathy.

Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Heart. 2017 May;103(9):672-678. doi: 10.1136/heartjnl-2016-309672. Epub 2016 Oct 28.

PMID:
27794017
33.

Prognostic role of stress echocardiography in hypertrophic cardiomyopathy: The International Stress Echo Registry.

Ciampi Q, Olivotto I, Gardini C, Mori F, Peteiro J, Monserrat L, Fernandez X, Cortigiani L, Rigo F, Lopes LR, Cruz I, Cotrim C, Losi M, Betocchi S, Beleslin B, Tesic M, Dikic AD, Lazzeroni E, Lazzeroni D, Sicari R, Picano E.

Int J Cardiol. 2016 Sep 15;219:331-8. doi: 10.1016/j.ijcard.2016.06.044. Epub 2016 Jun 15.

PMID:
27348413
34.

The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.

Al-Numair NS, Lopes L, Syrris P, Monserrat L, Elliott P, Martin AC.

Bioinformatics. 2016 Oct 1;32(19):2947-55. doi: 10.1093/bioinformatics/btw362. Epub 2016 Jun 17.

PMID:
27318203
35.

Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.

O'Mahony C, Jichi F, Monserrat L, Ortiz-Genga M, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators*.

Circ Arrhythm Electrophysiol. 2016 Jun;9(6). pii: e003818. doi: 10.1161/CIRCEP.115.003818.

PMID:
27217341
36.

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L.

PLoS One. 2016 Apr 21;11(4):e0153851. doi: 10.1371/journal.pone.0153851. eCollection 2016.

37.

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

Cuenca S, Ruiz-Cano MJ, Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, Padron-Barthe L, Grillo JJ, Vilches C, Segovia J, Pascual-Figal D, Lara-Pezzi E, Monserrat L, Alonso-Pulpon L, Garcia-Pavia P; Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular).

J Heart Lung Transplant. 2016 May;35(5):625-35. doi: 10.1016/j.healun.2015.12.014. Epub 2016 Jan 6.

PMID:
26899768
38.

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
39.

Prediction of thrombo-embolic risk in patients with hypertrophic cardiomyopathy (HCM Risk-CVA).

Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Eur J Heart Fail. 2015 Aug;17(8):837-45. doi: 10.1002/ejhf.316. Epub 2015 Jul 16.

40.

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L.

Heart. 2015 Jul;101(13):1047-53. doi: 10.1136/heartjnl-2014-307205. Epub 2015 May 2.

41.

Effect of crossbreeding with Limousine, Rubia Gallega and Belgium Blue on meat quality and fatty acid profile of Holstein calves.

Domingo G, Iglesias A, Monserrat L, Sanchez L, Cantalapiedra J, Lorenzo JM.

Anim Sci J. 2015 Nov;86(11):913-21. doi: 10.1111/asj.12373. Epub 2015 Feb 23.

PMID:
25706373
42.

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

Arad M, Monserrat L, Haron-Khun S, Seidman JG, Seidman CE, Arbustini E, Glikson M, Freimark D.

Isr Med Assoc J. 2014 Nov;16(11):707-13.

43.

Genetics of cardiomyopathies: novel perspectives with next generation sequencing.

Monserrat L, Ortiz-Genga M, Lesende I, Garcia-Giustiniani D, Barriales-Villa R, de Una-Iglesias D, Syrris P, Castro-Beiras A.

Curr Pharm Des. 2015;21(4):418-30. Review.

PMID:
25483943
44.

Exercise echocardiography and cardiac magnetic resonance imaging to predict outcome in patients with hypertrophic cardiomyopathy.

Peteiro J, Fernandez X, Bouzas-Mosquera A, Monserrat L, Méndez C, Rodriguez-Garcia E, Soler R, Couto D, Castro-Beiras A.

Eur Heart J Cardiovasc Imaging. 2015 Apr;16(4):423-32. doi: 10.1093/ehjci/jeu225. Epub 2014 Nov 26.

PMID:
25428944
45.

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.

46.

Atlas of the clinical genetics of human dilated cardiomyopathy.

Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B.

Eur Heart J. 2015 May 7;36(18):1123-35a. doi: 10.1093/eurheartj/ehu301. Epub 2014 Aug 27.

PMID:
25163546
47.

A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

Lopez-Ayala JM, Ortiz-Genga M, Gomez-Milanes I, Lopez-Cuenca D, Ruiz-Espejo F, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Monserrat L, Gimeno JR.

Clin Genet. 2015 Aug;88(2):172-6. doi: 10.1111/cge.12458. Epub 2014 Sep 8.

PMID:
25041374
48.

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, Ruiz-Espejo F, Ortíz M, González-Carrillo J, López-Cuenca D, Oliva-Sandoval MJ, Monserrat L, Valdés M, Gimeno JR.

Europace. 2014 Dec;16(12):1838-46. doi: 10.1093/europace/euu128. Epub 2014 Jun 17.

PMID:
24938629
49.

Usefulness of genetic diagnosis in a woman with hypertrophic cardiomyopathy and the desire for motherhood: information is key.

Barriales-Villa R, García-Giustiniani DA, Ortiz-Genga M, Monserrat L.

Rev Esp Cardiol (Engl Ed). 2014 Apr;67(4):333-4. doi: 10.1016/j.rec.2013.11.014. Epub 2014 Mar 7. No abstract available.

PMID:
24774605
50.

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD).

O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Eur Heart J. 2014 Aug 7;35(30):2010-20. doi: 10.1093/eurheartj/eht439. Epub 2013 Oct 14.

PMID:
24126876

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