Fenotipo incompleto de síndrome de Marfan tipo MASS: descripción de nueva variante patogénica del gen de la fibrilina-1

Piqueras-Flores, Jesús; Trujillo-Quintero, Juan Pablo; Frías-García, Raquel; González-Marín, María Arántzazu; Monserrat, Lorenzo; Hernández-Herrera, Germán.
Rev. esp. cardiol. (Ed. impr.) ; 72(10): 868-870, oct. 2019. ilus, tab, graf
Artículo en Español | IBECS (España) | ID: ibc-189330

Documentos relacionados

  1. A quantile integral linear model to quantify genetic effects on phenotypic variability.
  2. Leveraging phenotypic variability to identify genetic interactions in human phenotypes.
  3. A high-throughput and open-source platform for embryo phenomics.
  4. An estimator of first coalescent time reveals selection on young variants and large heterogeneity in rare allele ages among human populations.
  5. Global patterns of genomic and phenotypic variation in the invasive harlequin ladybird.
  6. Phenotypic variation of root-system architecture under high P and low P conditions in potato (Solanum tuberosum L.).
  7. Leaf phenotypic variation and its response to environmental factors in natural populations of Eucommia ulmoides.
  8. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
  9. Data integration uncovers the metabolic bases of phenotypic variation in yeast.
  10. Extreme heterogeneity of human mitochondrial DNA from organelles to populations.