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Three new cases with a supernumerary ring chromosome 1.
Rodríguez L, Starke H, Guardia NM, Tönnies H, Neitzel H, Kozlowski P, Mazauric ML, Heller A, Grondona FL, Mansilla E, Santos Muñoz MJ, Liehr T, Martínez-Frías ML. Rodríguez L, et al. Among authors: mansilla e. Clin Dysmorphol. 2005 Oct;14(4):169-175. Clin Dysmorphol. 2005. PMID: 16155417
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. Among authors: mansilla e. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Among authors: mansilla e. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M; ECEMC Working Group. Martínez-Frías ML, et al. Among authors: mansilla e. Am J Med Genet A. 2006 May 1;140(9):987-97. doi: 10.1002/ajmg.a.31203. Am J Med Genet A. 2006. PMID: 16575899
[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].
Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC). Martínez-Frías ML, et al. Among authors: mansilla e. Med Clin (Barc). 2008 Jun 21;131(3):81-8. doi: 10.1157/13124010. Med Clin (Barc). 2008. PMID: 18590621 Spanish.
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