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Year Number of Results
2009 1
2014 2
2015 1
2016 1
2017 1
2018 4
2019 1
2020 1
2021 2
2024 0

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Page 1
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. Bullich G, et al. Among authors: borregan m. Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22. Kidney Int. 2018. PMID: 29801666 Free article.
Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.
Casas G, Limeres J, Oristrell G, Gutierrez-Garcia L, Andreini D, Borregan M, Larrañaga-Moreira JM, Lopez-Sainz A, Codina-Solà M, Teixido-Tura G, Sorolla-Romero JA, Fernández-Álvarez P, González-Carrillo J, Guala A, La Mura L, Soler-Fernández R, Sao Avilés A, Santos-Mateo JJ, Marsal JR, Ribera A, de la Pompa JL, Villacorta E, Jiménez-Jáimez J, Ripoll-Vera T, Bayes-Genis A, Garcia-Pinilla JM, Palomino-Doza J, Tiron C, Pontone G, Bogaert J, Aquaro GD, Gimeno-Blanes JR, Zorio E, Garcia-Pavia P, Barriales-Villa R, Evangelista A, Masci PG, Ferreira-González I, Rodríguez-Palomares JF. Casas G, et al. Among authors: borregan m. J Am Coll Cardiol. 2021 Aug 17;78(7):643-662. doi: 10.1016/j.jacc.2021.06.016. J Am Coll Cardiol. 2021. PMID: 34384546 Free article.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. Among authors: borregan m. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: borregan m. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
Teixidó-Tura G, Franken R, Galuppo V, Gutiérrez García-Moreno L, Borregan M, Mulder BJ, García-Dorado D, Evangelista A. Teixidó-Tura G, et al. Among authors: borregan m. Heart. 2016 Apr;102(8):626-32. doi: 10.1136/heartjnl-2015-308535. Epub 2016 Feb 4. Heart. 2016. PMID: 26848186
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Teixidó-Turà G, Valenzuela I, Gutiérrez L, Borregan M, del Campo M, Evangelista A. Teixidó-Turà G, et al. Among authors: borregan m. Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Rev Esp Cardiol (Engl Ed). 2014. PMID: 25200617 No abstract available.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Among authors: borregan m. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 Free PMC article.
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. Plaja A, et al. Among authors: borregan m. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Cytogenet Genome Res. 2015. PMID: 26382598
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Gago-Díaz M, et al. Among authors: borregan m. Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. Clin Chim Acta. 2014. PMID: 25046559
11 results