Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

(2009) J Wincent et al.   CLINICAL GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inCHD7in patients with CHARGE syndrome cause TBnatural killer cellsevere combined immune deficiency and may cause Omenn-like syndrome

(2008) A. R. Gennery et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Transcriptional Autoregulation Controls Pancreatic Ptf1a Expression during Development and Adulthood

(2008) T. Masui et al.   MOLECULAR AND CELLULAR BIOLOGY