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39 results

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Page 1
[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].
Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. Ballesta Martínez MJ, et al. Among authors: lopez exposito i. An Pediatr (Barc). 2008 Oct;69(4):304-10. doi: 10.1157/13126553. An Pediatr (Barc). 2008. PMID: 18928696 Free article. Spanish.
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Among authors: lopez gonzalez v, lopez exposito i. Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9. Gene. 2012. PMID: 22342398
Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.
Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Vera-Carbonell A, et al. Among authors: lopez exposito i. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Am J Med Genet A. 2010. PMID: 20799321 Review.
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Vera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Among authors: lopez gonzalez v, lopez perez r, lopez exposito i. Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894102
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: lopez exposito i. 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.
39 results