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Page 1
Utility of CYP2D6 copy number variants as prognostic biomarker in localized anal squamous cell carcinoma.
Trilla-Fuertes L, Gámez-Pozo A, Nogué M, Busquier I, Arias F, López-Campos F, Fernández-Montes A, Ruiz A, Velázquez C, Martín-Bravo C, Pérez-Ruiz E, Asensio E, Hernández-Yagüe X, Rodrigues A, Ghanem I, López-Vacas R, Hafez A, Arias P, Dapía I, Solís M, Dittmann A, Ramos R, Llorens C, Maurel J, Campos-Barros Á, Fresno Vara JÁ, Feliu J. Trilla-Fuertes L, et al. Among authors: arias p, arias f. Cancer. 2023 Aug 15;129(16):2581-2592. doi: 10.1002/cncr.34797. Epub 2023 Apr 25. Cancer. 2023. PMID: 37096763
Prognostic Impact of Dihydropyrimidine Dehydrogenase Germline Variants in Unresectable Non-Small Cell Lung Cancer Patients Treated with Platin-Based Chemotherapy.
Guijarro-Eguinoa J, Arjona-Hernandez S, Stewart S, Pernia O, Arias P, Losantos-García I, Rubio T, Burdiel M, Rodriguez-Antolin C, Cruz-Castellanos P, Higuera O, Borobia AM, Rodriguez-Novoa S, de Castro-Carpeño J, Ibanez de Caceres I, Rosas-Alonso R. Guijarro-Eguinoa J, et al. Among authors: arias p. Int J Mol Sci. 2023 Jun 7;24(12):9843. doi: 10.3390/ijms24129843. Int J Mol Sci. 2023. PMID: 37372990 Free PMC article.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J, Gómez ÁS, Coronado M, Rodríguez-Martín P, Parra A, Pascual P, Cazalla M, Gallego N, Arias P, Morales AV, Nevado J, Lapunzina P. Tenorio-Castano J, et al. Among authors: arias p. Clin Genet. 2023 Dec;104(6):637-647. doi: 10.1111/cge.14423. Epub 2023 Sep 13. Clin Genet. 2023. PMID: 37702321 Review.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: arias p. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: arias p. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Miranda-Alcaraz L, Cruz-Utrilla A, Del Cerro Marín MJ, Álvarez-Fuente M, Del Mar Rodríguez Vázquez Del Rey M, Guillén Rodríguez I, Becerra-Munoz VM, Moya-Bonora A, Ochoa Parra N, Parra A, Pascual P, Cazalla M, Silván C, Arias P, Valverde D, de Jesús-Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J. Gallego-Zazo N, et al. Among authors: arias p. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
Identifying biomarkers of treatment response to ciclosporin in atopic dermatitis through multiomic predictive modelling: DERMATOMICS study protocol.
Marín-Candón A, García-García I, Arias P, Carcas AJ, Díaz-García L, Feltes Ochoa R, Hernández Cano N, Herranz Pinto P, Jiménez González M, López-Granados E, Martínez-Feito A, Mayor-Ibarguren A, Rosas-Alonso R, Seco-Meseguer E, Borobia AM. Marín-Candón A, et al. Among authors: arias p. BMJ Open. 2023 Jul 10;13(7):e072350. doi: 10.1136/bmjopen-2023-072350. BMJ Open. 2023. PMID: 37429687 Free PMC article.
Adult experiences in Beckwith-Wiedemann syndrome.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM. Drust WA, et al. Among authors: arias p. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):116-127. doi: 10.1002/ajmg.c.32046. Epub 2023 May 10. Am J Med Genet C Semin Med Genet. 2023. PMID: 37163416
Advancing pharmacogenetic testing in a tertiary hospital: a retrospective analysis after 10 years of activity.
Stewart S, Dodero-Anillo JM, Guijarro-Eguinoa J, Arias P, Gómez López De Las Huertas A, Seco-Meseguer E, García-García I, Ramírez García E, Rodríguez-Antolín C, Carcas AJ, Rodriguez-Novoa S, Rosas-Alonso R, Borobia AM. Stewart S, et al. Among authors: arias p. Front Pharmacol. 2023 Oct 19;14:1292416. doi: 10.3389/fphar.2023.1292416. eCollection 2023. Front Pharmacol. 2023. PMID: 37927587 Free PMC article.
284 results