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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML, Lapunzina P. Nevado J, et al. Among authors: mansilla e. Front Genet. 2021 Jul 30;12:645595. doi: 10.3389/fgene.2021.645595. eCollection 2021. Front Genet. 2021. PMID: 34394178 Free PMC article.
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.
[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.
Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality.
Nevado J, de Torres ML, Fernández L, Mori MA, Villa A, Palomares M, García-Santiago F, Mansilla E, García-Miñaur S, Delicado A, Lapunzina P. Nevado J, et al. Among authors: mansilla e. Am J Med Genet A. 2009 Jul;149A(7):1561-4. doi: 10.1002/ajmg.a.32892. Am J Med Genet A. 2009. PMID: 19530191 No abstract available.
82 results