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Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects
(WILEY-BLACKWELL, 2011)
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping ...
Copy number variants on the X chromosome in women with primary ovarian insufficiency
(ELSEVIER SCIENCE INC, 2011)
Objective: To investigate whether submicroscopic copy number variants (CNVs) on the X chromosome can be identified in women with primary ovarian insufficiency (POI), defined as spontaneous secondary amenorrhea before 40 ...
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
(CELL PRESS, 2010)
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies ...