Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2008 2
2009 2
2010 2
2012 1
2013 1
2014 3
2015 3
2016 3
2017 6
2018 7
2019 5
2020 6
2021 8
2022 5
2023 15
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

64 results

Results by year

Filters applied: . Clear all
Page 1
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. Among authors: arias p. J Med Genet. 2024 Mar 26:jmg-2023-109546. doi: 10.1136/jmg-2023-109546. Online ahead of print. J Med Genet. 2024. PMID: 38531627
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.
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.
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.
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.
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.
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.
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.
Lack of effect of benralizumab on signs and symptoms of moderate-to-severe atopic dermatitis: Results from the phase 2 randomized, double-blind, placebo-controlled HILLIER trial.
Guttman-Yassky E, Bahadori L, Brooks L, Clark KL, Grindebacke H, Ho CN, Katial R, Pham TH, Walton C, Datto CJ; HILLIER study group†. Guttman-Yassky E, et al. J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1211-e1214. doi: 10.1111/jdv.19195. Epub 2023 Jun 12. J Eur Acad Dermatol Venereol. 2023. PMID: 37178404 Clinical Trial. No abstract available.
64 results