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Page 1
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. Ochoa JP, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. BMC Med Genomics. 2018. PMID: 29986705 Free PMC article.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
A rare HCN4 variant with combined sinus bradycardia, left atrial dilatation, and hypertrabeculation/left ventricular noncompaction phenotype.
Alonso-Fernández-Gatta M, Gallego-Delgado M, Caballero R, Villacorta E, Díaz-Peláez E, García-BerrocaL B, Crespo-García T, Plata-Izquierdo B, Marcos-Vadillo E, García-Cuenllas L, Barreiro-Pérez M, Isidoro-García M, Tamargo-Menéndez J, Delpón E, Sánchez PL. Alonso-Fernández-Gatta M, et al. Rev Esp Cardiol (Engl Ed). 2021 Sep;74(9):781-789. doi: 10.1016/j.rec.2020.06.019. Epub 2020 Sep 30. Rev Esp Cardiol (Engl Ed). 2021. PMID: 33008772 English, Spanish.
Genetic association study in nasal polyposis.
Benito Pescador D, Isidoro-García M, García-Solaesa V, Pascual de Pedro M, Sanz C, Hernández-Hernández L, Sánchez-López J, Lorente SF, Picado C, Valero A, Dávila I. Benito Pescador D, et al. J Investig Allergol Clin Immunol. 2012;22(5):331-40. J Investig Allergol Clin Immunol. 2012. PMID: 23101307 Free article.
Update on the Genetic Basis of Drug Hypersensitivity Reactions.
Jurado-Escobar R, Perkins JR, García-Martín E, Isidoro-García M, Doña I, Torres MJ, Cornejo-García JA. Jurado-Escobar R, et al. J Investig Allergol Clin Immunol. 2017;27(6):336-345. doi: 10.18176/jiaci.0199. J Investig Allergol Clin Immunol. 2017. PMID: 29199960 Free article. Review.
Tryptase: genetic and functional considerations.
Hernández-Hernández L, Sanz C, García-Solaesa V, Padrón J, García-Sánchez A, Dávila I, Isidoro-García M, Lorente F. Hernández-Hernández L, et al. Allergol Immunopathol (Madr). 2012 Nov-Dec;40(6):385-9. doi: 10.1016/j.aller.2012.04.004. Epub 2012 Jul 4. Allergol Immunopathol (Madr). 2012. PMID: 22770587
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: isidoro garcia m. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Primun non nocere, polypharmacy and pharmacogenetics.
Isidoro-García M, Sánchez-Martín A, García-Berrocal B, Román-Curto C. Isidoro-García M, et al. Pharmacogenomics. 2015 Nov;16(17):1903-5. doi: 10.2217/pgs.15.137. Epub 2015 Nov 10. Pharmacogenomics. 2015. PMID: 26554320 Free article. No abstract available.
84 results