Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

(2011) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Blake C. Ballif et al.   HUMAN GENETICS

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

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

Genomic copy number variations at 17p13.3 and epileptogenesis

(2010) Keiko Shimojima et al.   EPILEPSY RESEARCH

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

Two new cases of pure 1q terminal deletion presenting with brain malformations

(2008) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: Determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q

(2008) A. Roos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions

(2008) Martin Poot et al.   European Journal of Medical Genetics

A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

(2007) Joris Andrieux et al.   European Journal of Medical Genetics