Maria Luisa Martinez-Frias
Affiliation: Instituto de Salud Carlos III
- Martinez Frias M, de Frutos C, Bermejo E, Nieto M. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010;152A:245-55 pubmed publisher..This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target...
- Martínez Frías M, Egüés X, Puras A, Hualde J, de Frutos C, Bermejo E, et al. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. Am J Med Genet A. 2011;155A:197-202 pubmed publisher..In addition, we evaluated recent observations that FGF ligands and receptors (including FGFR3) act in concert to organize the whole telencephalon activity, rather than independently patterning different areas...
- Martinez Frias M, Perez B, Desviat L, Castro M, Leal F, Rodriguez L, et al. 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?. Am J Med Genet A. 2006;140:987-97 pubmed..Three possible mechanisms are considered by evaluating the results in the light of the present knowledge on cytology and molecular biology. ..