Browsing by Author "Amor, David J."

Now showing items 1-2 of 2

    • Feasibility of screening for chromosome 15 imprinting disorders in 16 579 newborns by using a novel genomic ... 
      Godler, David E.; Ling, Ling; Gamage, Dinusha; Baker, Emma K.; Bui, Minh; Field, Michael J.; Rogers, Carolyn; Butler, Merlin G.; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E.; Skinner, Cindy D.; Alliende Rodríguez, Maria Angelica; Santa María Vásquez, Lorena Ivette; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J. (Asociación Médica Amer, 2021)
      IMPORTANCIA Las pruebas de detección del síndrome de Angelman (AS), el síndrome de Prader-Willi (PWS) y el síndrome de duplicación del cromosoma 15 (Dup15q) en recién nacidos pueden beneficiar el diagnóstico y el tratamiento ...
    • Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis 
      Aliaga, Solange M.; Slater, Howard R.; Francis, David; Du Sart, Desiree; Li, Xin; Amor, David J.; Alliende, Angelica M.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Curotto, Bianca; Godler, David E. (Amer. Assoc. Clinical Chemistry, 2016)
      BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...