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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT, Hernández-Gonzalez I, Gallego N, Pérez-Olivares C, Ochoa Parra N, Arias P, Granda E, Acebo GG, Lago-Docampo M, Palomino-Doza J, López Meseguer M, Del Cerro MJ, Pah Consortium S, Valverde D, Lapunzina P, Escribano-Subías P. Castaño JAT, et al. Among authors: gallego n. Genes (Basel). 2020 Sep 30;11(10):1158. doi: 10.3390/genes11101158. Genes (Basel). 2020. PMID: 33007923 Free PMC article.
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.
Pienkos S, Gallego N, Condon DF, Cruz-Utrilla A, Ochoa N, Nevado J, Arias P, Agarwal S, Patel H, Chakraborty A, Lapunzina P, Escribano P, Tenorio-Castaño J, de Jesús Pérez VA. Pienkos S, et al. Among authors: gallego n. Front Med (Lausanne). 2021 Apr 30;8:625763. doi: 10.3389/fmed.2021.625763. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33996849 Free PMC article.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Tenorio-Castaño JA, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martínez-Monseny AF, O'Callaghan Cord MDM, Álvarez S, Stolerman ES, Washington C, Ramos FJ, The S O G R I Consortium, Lapunzina P. Tenorio-Castaño JA, et al. Among authors: gallego n. Clin Genet. 2021 Oct;100(4):405-411. doi: 10.1111/cge.14020. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34196401 Review.
Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry.
Cruz-Utrilla A, Gallego N, Torrent-Vernetta A, Guillén I, Escribano Subias MP, Del Cerro Marín MJ. Cruz-Utrilla A, et al. Among authors: gallego n. Rev Esp Cardiol (Engl Ed). 2022 May;75(5):448-450. doi: 10.1016/j.rec.2021.12.006. Epub 2022 Jan 17. Rev Esp Cardiol (Engl Ed). 2022. PMID: 35058221 English, Spanish. No abstract available.
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Júnior JC, Arberas C, Guillén-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Cardoso LCA, et al. Among authors: gallego n. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. Cancers (Basel). 2022. PMID: 35954470 Free PMC article.
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.
Santurtún M, Mediavilla-Martinez E, Vega AI, Gallego N, Heath KE, Tenorio JA, Lapunzina P, Riancho-Zarrabeitia L, Riancho JA. Santurtún M, et al. Among authors: gallego n. Front Endocrinol (Lausanne). 2022 Aug 11;13:965476. doi: 10.3389/fendo.2022.965476. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36072928 Free PMC article.
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Sarmiento Doncel S, Peláez RG, Lapunzina P, Corrales-Medina FF, Díaz Mosquera GA, Bonanad S, Cortes JM, Cazalla M, Gallego N, Querol-Giner F, Tenorio J, López Guerrero JA. Sarmiento Doncel S, et al. Among authors: gallego n. Life (Basel). 2024 Aug 21;14(8):1041. doi: 10.3390/life14081041. Life (Basel). 2024. PMID: 39202783 Free PMC article.
92 results