High frequency of copy number imbalances in Rubinstein–Taybi

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review, Orphanet Journal of Rare Diseases

Genes, Free Full-Text

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Genes, Free Full-Text

Frontiers Genetic Predisposition to Solid Pediatric Cancers

PDF) Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect