Search Results - "Marco, JJ"

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
  2. 2

    Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome by Cotarelo, RP, Valero, MC, Prados, B, Peña, A, Rodríguez, L, Fano, O, Marco, JJ, Martínez-Frías, ML, Cruces, J

    Published in Clinical genetics (01-02-2008)
    “…Walker–Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, brain malformations and structural…”
    Get full text
    Journal Article
  3. 3
  4. 4
  5. 5

    Amelia: Analysis of its epidemiological and clinical characteristics by Martínez-Frías, M. L., Bermejo, E., Aparicio, P., Blanco, M., Burón, E., Cuevas, L., Espinosa, M. J., Fondevilla, J., Gallo, M., Hernández, F., Marco, J. J., Martínez, S., Morales, M. C., Mújica, I., Paisán, L., Valdivia, L.

    Published in American journal of medical genetics (12-12-1997)
    “…Eighteen cases of amelia in the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed epidemiologically. Prevalence at birth was 0.15…”
    Get full text
    Journal Article
  6. 6

    Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births by Martínez-Frías, M.-L., Sanchís, A., Aparicio, P., Blanco, M., García, M. J., Gómez-Ullate, J., Félix, V., Huertas, H., Jiménez, N., López, J. A., Marco, J. J., Martín, M., Palacios, G., Romero, D., Vázquez, M. S.

    Published in Teratology (Philadelphia) (01-01-1998)
    “…Van Allen et al. [(1973) Am. J. Med. Genet. 47:723–743] provided evidence for multisite closure of the neural tube in humans. Reynolds et al. [(1995)…”
    Get full text
    Journal Article Conference Proceeding