Home > LILACS - Literatura Latinoamericana y del Caribe de Ciencias de la Salud > Search result

Results: 2

The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

Dong, Han-Quan; Du, Yue-Xin.
Rev. Assoc. Med. Bras. (1992, Impr.); 65 (6), 2019
SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy ...
Proteínas Quinasas Activadas por AMP/genética, Estudios de Casos y Controles, Variaciones en el Número de Copia de ADN, Estudios de Asociación Genética, Defectos del Tabique Interventricular/genética, Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética, Reacción en Cadena en Tiempo Real de la Polimerasa, Valores de Referencia, Tetralogía de Fallot/genética
Fulltext

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features

Ramírez-Velazco, Azubel; Rivera, Horacio; Vásquez-Velázquez, Ana Isabel; Aguayo-Orozco, Thania Alejandra; Delgadillo-Pérez, Saturnino; Domínguez, Maria Guadalupe.
Colomb. med; 49 (3), 2018
Abstract Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Objective: We looked for a 22q11.2 deletion in Mexican patien...
Síndrome de DiGeorge/diagnóstico, Cardiopatías Congénitas/diagnóstico, Hibridación Fluorescente in Situ, Tetralogía de Fallot/diagnóstico, Análisis Citogenético, Síndrome de DiGeorge/genética, Síndrome de DiGeorge/fisiopatología, Cardiopatías Congénitas/genética, Defectos del Tabique Interventricular/diagnóstico, Defectos del Tabique Interventricular/genética, México, Estudios Prospectivos, Tetralogía de Fallot/genética
Fulltext