Maria Luisa Martinez-Frias

Summary

Affiliation: Instituto de Salud Carlos III
Country: Spain

Publications

  1. 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...
  2. 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...
  3. request reprint
    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. ..

Detail Information

Publications3

  1. 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...
  2. 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...
  3. request reprint
    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. ..