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Mutation of PACS1: the milder end of the spectrum.
Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M. Martinez-Monseny A, et al. Among authors: fernandez g. Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237. Clin Dysmorphol. 2018. PMID: 30113927 No abstract available.
Plasma coenzyme Q10 status is impaired in selected genetic conditions.
Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R. Montero R, et al. Among authors: fernandez g. Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2. Sci Rep. 2019. PMID: 30692599 Free PMC article.
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Among authors: fernandez g. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: fernandez g. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.
Llach J, Luzko I, Earl J, Barreto E, Rodríguez-Garrote M, Lleixà M, Herrera-Pariente C, Fernández G, Munoz J, Bonjoch L, Saurí T, Ausania F, Ocaña T, Moreno L, Grau E, Oriola J, Alvarez-Mora MI, Herreros-Villanueva M, Castellví-Bel S, Balaguer F, Bujanda L, Moreira L. Llach J, et al. Among authors: fernandez g. Cancers (Basel). 2024 Nov 9;16(22):3779. doi: 10.3390/cancers16223779. Cancers (Basel). 2024. PMID: 39594734 Free PMC article.
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.
Vega-Garcia N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garcés C, Alonso J, Barragán E, Fernández G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou J, Minguela A, Montaño A, Ortega M, Torrebadell M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives S, Dapena JL, Ramírez M, Camós M, On Behalf Of The Group Of Leukemia Of The Spanish Society Of Pediatric Hematology And Oncology Sehop. Vega-Garcia N, et al. Among authors: fernandez jm, fernandez g. J Pers Med. 2020 Nov 26;10(4):244. doi: 10.3390/jpm10040244. J Pers Med. 2020. PMID: 33255984 Free PMC article.
1,487 results