High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44

(2010) C. Orellana et al.   CYTOGENETIC AND GENOME RESEARCH

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

(2010) Almuth Caliebe et al.   European Journal of Medical Genetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Telomeric position effect: From the yeast paradigm to human pathologies?

(2007) Alexandre Ottaviani et al.   BIOCHIMIE