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Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Manso-Bazús C, Spataro N, Gabau E, Beltrán-Salazar VP, Trujillo-Quintero JP, Capdevila N, Brunet-Vega A, Baena N, Jeyaprakash AA, Martinez-Glez V, Ruiz A. Manso-Bazús C, et al. Among authors: trujillo quintero jp. Front Genet. 2024 Jan 31;15:1291063. doi: 10.3389/fgene.2024.1291063. eCollection 2024. Front Genet. 2024. PMID: 38356699 Free PMC article.
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Amor-Salamanca A, Santana Rodríguez A, Rasoul H, Rodríguez-Palomares JF, Moldovan O, Hey TM, Delgado MG, Cuenca DL, de Castro Campos D, Basurte-Elorz MT, Macías-Ruiz R, Fuentes Cañamero ME, Galvin J, Bilbao Quesada R, de la Higuera Romero L, Trujillo-Quintero JP, García-Cruz LM, Cárdenas-Reyes I, Jiménez-Jáimez J, García-Hernández S, Valverde-Gómez M, Gómez-Díaz I, Limeres Freire J, García-Pinilla JM, Gimeno-Blanes JR, Savattis K, García-Pavía P, Ochoa JP. Amor-Salamanca A, et al. Among authors: trujillo quintero jp. Circ Genom Precis Med. 2024 Apr;17(2):e004404. doi: 10.1161/CIRCGEN.123.004404. Epub 2024 Feb 14. Circ Genom Precis Med. 2024. PMID: 38353104 Free PMC article.
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Ramírez MJ, Pujol R, Trujillo-Quintero JP, Minguillón J, Bogliolo M, Río P, Navarro S, Casado JA, Badell I, Carrasco E, Balmaña J, Català A, Sevilla J, Beléndez C, Argilés B, López M, Díaz de Heredia C, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surrallés J. Ramírez MJ, et al. Among authors: trujillo quintero jp. Am J Hematol. 2021 Aug 1;96(8):989-999. doi: 10.1002/ajh.26234. Epub 2021 May 25. Am J Hematol. 2021. PMID: 33984160 Free article.
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.
Trujillo-Quintero JP, Gabau Vila E, Larrañaga Moreira JM, Ruiz Nel Lo A, Monserrat L, Barriales-Villa R. Trujillo-Quintero JP, et al. Rev Esp Cardiol (Engl Ed). 2021 Jun;74(6):551-553. doi: 10.1016/j.rec.2020.11.006. Epub 2021 Jan 18. Rev Esp Cardiol (Engl Ed). 2021. PMID: 33478915 English, Spanish. No abstract available.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletions.
Peña-Peña ML, Trujillo-Quintero JP, García-Medina D, Cantero-Pérez EM, De Uña-Iglesias D, Monserrat L. Peña-Peña ML, et al. Among authors: trujillo quintero jp. Rev Esp Cardiol (Engl Ed). 2020 Sep;73(9):780-782. doi: 10.1016/j.rec.2020.02.004. Epub 2020 Mar 16. Rev Esp Cardiol (Engl Ed). 2020. PMID: 32192878 English, Spanish. No abstract available.
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. Perin F, et al. Among authors: trujillo quintero jp. Rev Esp Cardiol (Engl Ed). 2019 Nov;72(11):978-980. doi: 10.1016/j.rec.2019.05.002. Epub 2019 Jun 8. Rev Esp Cardiol (Engl Ed). 2019. PMID: 31182298 English, Spanish. No abstract available.
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. Piqueras-Flores J, et al. Among authors: trujillo quintero jp. Rev Esp Cardiol (Engl Ed). 2019 Oct;72(10):868-870. doi: 10.1016/j.rec.2019.01.014. Epub 2019 May 1. Rev Esp Cardiol (Engl Ed). 2019. PMID: 31053375 English, Spanish. No abstract available.
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. Among authors: trujillo quintero jp. 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.
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