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Page 1
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Among authors: ordonez gr. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1. Acta Ophthalmol. 2020. PMID: 32483926 Free PMC article.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. Among authors: ordonez gr. BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. BMC Med Genomics. 2018. PMID: 29986705 Free PMC article.
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. Among authors: ordonez gr. Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359. doi: 10.1002/mgg3.291. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717660 Free PMC article.
Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene.
Diñeiro M, Cifuentes GA, Capín R, Santiago A, Otero A, Castillo D, Pruneda PC, Ordóñez GR, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Among authors: ordonez gr. Eur J Hum Genet. 2020 Apr;28(4):401-402. doi: 10.1038/s41431-019-0502-6. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527855 Free PMC article. No abstract available.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Puente XS, et al. Among authors: ordonez gr. Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549337 Free PMC article.
A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma.
Jiménez C, Jara-Acevedo M, Corchete LA, Castillo D, Ordóñez GR, Sarasquete ME, Puig N, Martínez-López J, Prieto-Conde MI, García-Álvarez M, Chillón MC, Balanzategui A, Alcoceba M, Oriol A, Rosiñol L, Palomera L, Teruel AI, Lahuerta JJ, Bladé J, Mateos MV, Orfão A, San Miguel JF, González M, Gutiérrez NC, García-Sanz R. Jiménez C, et al. Among authors: ordonez gr. J Mol Diagn. 2017 Jan;19(1):99-106. doi: 10.1016/j.jmoldx.2016.08.004. Epub 2016 Nov 15. J Mol Diagn. 2017. PMID: 27863261 Free article.
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Bastida JM, González-Porras JR, Jiménez C, Benito R, Ordoñez GR, Álvarez-Román MT, Fontecha ME, Janusz K, Castillo D, Fisac RM, García-Frade LJ, Aguilar C, Martínez MP, Bermejo N, Herrero S, Balanzategui A, Martin-Antorán JM, Ramos R, Cebeiro MJ, Pardal E, Aguilera C, Pérez-Gutierrez B, Prieto M, Riesco S, Mendoza MC, Benito A, Hortal Benito-Sendin A, Jiménez-Yuste V, Hernández-Rivas JM, García-Sanz R, González-Díaz M, Sarasquete ME. Bastida JM, et al. Among authors: ordonez gr. Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13. Thromb Haemost. 2017. PMID: 27734074
Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.
Karube K, Enjuanes A, Dlouhy I, Jares P, Martin-Garcia D, Nadeu F, Ordóñez GR, Rovira J, Clot G, Royo C, Navarro A, Gonzalez-Farre B, Vaghefi A, Castellano G, Rubio-Perez C, Tamborero D, Briones J, Salar A, Sancho JM, Mercadal S, Gonzalez-Barca E, Escoda L, Miyoshi H, Ohshima K, Miyawaki K, Kato K, Akashi K, Mozos A, Colomo L, Alcoceba M, Valera A, Carrió A, Costa D, Lopez-Bigas N, Schmitz R, Staudt LM, Salaverria I, López-Guillermo A, Campo E. Karube K, et al. Among authors: ordonez gr. Leukemia. 2018 Mar;32(3):675-684. doi: 10.1038/leu.2017.251. Epub 2017 Aug 14. Leukemia. 2018. PMID: 28804123 Free PMC article.
From Waldenström's macroglobulinemia to aggressive diffuse large B-cell lymphoma: a whole-exome analysis of abnormalities leading to transformation.
Jiménez C, Alonso-Álvarez S, Alcoceba M, Ordóñez GR, García-Álvarez M, Prieto-Conde MI, Chillón MC, Balanzategui A, Corral R, Marín LA, Gutiérrez NC, Puig N, Sarasquete ME, González M, García-Sanz R. Jiménez C, et al. Among authors: ordonez gr. Blood Cancer J. 2017 Aug 25;7(8):e591. doi: 10.1038/bcj.2017.72. Blood Cancer J. 2017. PMID: 28841204 Free PMC article.
28 results