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Year Number of Results
2002 1
2005 1
2006 1
2007 2
2008 4
2009 2
2010 5
2011 4
2012 7
2013 5
2014 5
2015 3
2016 6
2017 4
2019 1
2020 1
2021 7
2022 5
2023 3
2024 2

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Page 1
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: trujillo tiebas mj. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Among authors: trujillo tiebas mj. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Among authors: trujillo tiebas mj. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
Recommendations for the use of microarrays in prenatal diagnosis.
Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos. Suela J, et al. Among authors: trujillo tiebas mj. Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. Med Clin (Barc). 2017. PMID: 28233562 English, Spanish.
Noninvasive prenatal diagnosis of monogenic disorders.
Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Rodríguez de Alba M, et al. Among authors: trujillo tiebas mj. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. doi: 10.1517/14712598.2012.674509. Epub 2012 Apr 16. Expert Opin Biol Ther. 2012. PMID: 22507053 Review.
The enduring enigma of sporadic chorea: A single center case series.
Garcia Ruiz PJ, Feliz LD, Feliz CE, Sanchez IL, Fernandez AA, Kelly FB, Tiebas MJT, Del Val J, Vinagre IN. Garcia Ruiz PJ, et al. Among authors: tiebas mjt. Tremor Other Hyperkinet Mov (N Y). 2023 Sep 7;13:33. doi: 10.5334/tohm.800. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37692071 Free PMC article.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I, Solarat C, Blanco-Kelly F, Sanchez-Navarro I, Bea-Mascato B, Martin-Salazar E, Lorda-Sanchez I, Swafiri ST, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Minguez P, Corton M, Valverde D, Ayuso C. Perea-Romero I, et al. Among authors: trujillo tiebas mj. NPJ Genom Med. 2022 Jul 14;7(1):41. doi: 10.1038/s41525-022-00311-2. NPJ Genom Med. 2022. PMID: 35835773 Free PMC article.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Lopez-Rodriguez R, Lantero E, Blanco-Kelly F, Avila-Fernandez A, Martin Merida I, Del Pozo-Valero M, Perea-Romero I, Zurita O, Jiménez-Rolando B, Swafiri ST, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Carreño Salas E, García-Sandoval B, Corton M, Ayuso C. Lopez-Rodriguez R, et al. Among authors: trujillo tiebas mj. Exp Eye Res. 2021 Nov;212:108761. doi: 10.1016/j.exer.2021.108761. Epub 2021 Sep 4. Exp Eye Res. 2021. PMID: 34492281
Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.
Ortiz-Cabrera NV, Gavela-Pérez T, Mejorado-Molano FJ, Santillán-Coello JM, Villacampa-Aubá JM, Trujillo-Tiebas MJ, Soriano-Guillén L. Ortiz-Cabrera NV, et al. Among authors: trujillo tiebas mj. An Pediatr (Engl Ed). 2022 Oct;97(4):247-254. doi: 10.1016/j.anpede.2021.06.003. Epub 2021 Jul 5. An Pediatr (Engl Ed). 2022. PMID: 34238712 Free article.
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P, Pérez-Pérez J, Sainz MJ. Gómez-Tortosa E, et al. Among authors: trujillo tiebas mj. J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922. J Alzheimers Dis. 2016. PMID: 26967212
58 results