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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. 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.
Five years' experience of the clinical exome sequencing in a Spanish single center.
Arteche-López A, Ávila-Fernández A, Riveiro Álvarez R, Almoguera B, Bustamante Aragonés A, Martin-Merida I, López Martínez MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C. Arteche-López A, et al. Among authors: trujillo tiebas mj. Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6. Sci Rep. 2022. PMID: 36357507 Free PMC article.
Prenatal diagnosis of 46, XX male fetus.
Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. Trujillo-Tiebas MJ, et al. J Assist Reprod Genet. 2006 May;23(5):253-4. doi: 10.1007/s10815-005-9020-2. Epub 2006 May 25. J Assist Reprod Genet. 2006. PMID: 16724267 Free PMC article.
[Holt-Oram syndrome: study of 7 cases].
Martínez-García M, Lorda-Sanchez I, García-Hoyos M, Ramos C, Ayuso C, Trujillo-Tiebas MJ. Martínez-García M, et al. Med Clin (Barc). 2010 Nov 13;135(14):653-7. doi: 10.1016/j.medcli.2010.04.013. Epub 2010 Jun 17. Med Clin (Barc). 2010. PMID: 21070912 Spanish.
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
Peraita-Ezcurra M, Martínez-García M, Ruiz-Pérez VL, Sánchez-Gutiérrez ME, Fenollar-Cortés M, Vélez-Monsalve C, Ramos-Corrales C, Pastor I, Santonja C, Trujillo-Tiebas MJ. Peraita-Ezcurra M, et al. Gene. 2012 May 10;499(1):223-5. doi: 10.1016/j.gene.2012.02.030. Epub 2012 Mar 3. Gene. 2012. PMID: 22406498
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. 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.
150 results