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Page 1
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PLoS One. 2017 Aug 3;12(8):e0181465. doi: 10.1371/journal.pone.0181465. eCollection 2017.
PLoS One. 2017.
PMID: 28771489
Free PMC article.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Gil-Salvador M, Latorre-Pellicer A, Lucia-Campos C, Arnedo M, Darnaude MT, Díaz de Bustamante A, Villares R, Palma Milla C, Puisac B, Musio A, Ramos FJ, Pié J.
Gil-Salvador M, et al. Among authors: darnaude mt.
Front Genet. 2022 Sep 28;13:993064. doi: 10.3389/fgene.2022.993064. eCollection 2022.
Front Genet. 2022.
PMID: 36246631
Free PMC article.
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Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success.
Panizo Morgado E, Darnaude MT, Torres Mohedas J, Benedit M, Cervera Bravo Á.
Panizo Morgado E, et al. Among authors: darnaude mt.
J Pediatr Hematol Oncol. 2020 Oct;42(7):e686-e688. doi: 10.1097/MPH.0000000000001742.
J Pediatr Hematol Oncol. 2020.
PMID: 32079985
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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, Juárez Rufián A, Arranz Cano MI, Villares Alonso R, Morales-Pérez P, Segura-Tudela A, Camacho A, Nuñez N, Simón R, Moreno-García M, Alvarez-Mora MI.
Arteche-López A, et al. Among authors: darnaude mt.
Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560.
Genes (Basel). 2021.
PMID: 33921431
Free PMC article.
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Tetraploidy acute myeloid leukaemia after chromosome 16 inversion.
Vilches AS, Díaz de Bustamante A, Sanchez-Calero J, Darnaude MT.
Vilches AS, et al. Among authors: darnaude mt.
BMJ Case Rep. 2017 Mar 22;2017:bcr2017219274. doi: 10.1136/bcr-2017-219274.
BMJ Case Rep. 2017.
PMID: 28331025
Free PMC article.
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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: darnaude mt.
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.
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