Listar Producción científica por autor "Defilló Ricart, Mariano"

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    • 5α-Reductase-2 gene mutations in the Dominican Republic . 

      Cai, LiQun; Zhu, Yuan Shan; Katz, Melissa D.; Herrera, Cecilia; Baéz, José; Defilló Ricart, Mariano; Shackleton, Cedric; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1996)
      Male pseudohermaphroditism due to 5α-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5α-reductase-2 gene defect ...

    • Estimating impacts on developing countries of the decrease in U.S. training opportunities for foreign medical graduates. 

      Harrigton, William J.; Gotuzzo, Eduardo; Vial, Salvador; Restrepo M., Jorge; Baldi, José; Young, Philip M.; Defilló Ricart, Mariano; Guderian, Ronald; Harrigton, William J. Jr. (Academic Medicine, 1991)
      Between 1973 and 1983, the number of foreign nationals from developing nations who entered the United States for graduate medical education decreased by approximately 90%. Many of those who would have studied in the United ...

    • A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. 

      Stavrou, Stavros S.; Zhu, Yuan Shan; Cai, LiQun; Katz, Melissa D.; Herrera, Cecilia; Defilló Ricart, Mariano; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1998)
      We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ...