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Page 1
Pure partial trisomy 7q: two new patients and review.
Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet. 2002 Nov 22;113(2):218-24. doi: 10.1002/ajmg.10719. Am J Med Genet. 2002. PMID: 12407716 Review.
Subtelomeric deletion of 12p: Description of a third case and review.
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Macdonald AH, et al. Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Am J Med Genet A. 2010. PMID: 20503336 Review.
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. 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
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. Clin Dysmorphol. 2005 Oct;14(4):169-175. Clin Dysmorphol. 2005. PMID: 16155417
286 results