Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

(2012) Elena Cellini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

(2012) T. Pisano et al.   NEUROLOGY

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia

(2011) J.C. Gerber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

(2011) Aurelie Carabalona et al.   HUMAN MOLECULAR GENETICS

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

(2010) Liesbeth Backx et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Filamin A Regulates Caveolae Internalization and Trafficking in Endothelial Cells

(2009) Maria Sverdlov et al.   MOLECULAR BIOLOGY OF THE CELL

Neuronal migration disorders

(2009) Renzo Guerrini et al.   NEUROBIOLOGY OF DISEASE

An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency

(2009) L. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Functional Polymorphism in THBS2 that Affects Alternative Splicing and MMP Binding Is Associated with Lumbar-Disc Herniation

(2008) Yuichiro Hirose et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

(2008) William B. Dobyns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Selection of differentiating cells by different levels of delta-like 1 among neural precursor cells in the developing mouse telencephalon

(2008) D. Kawaguchi et al.   DEVELOPMENT

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

(2008) Renzo Guerrini et al.   TRENDS IN NEUROSCIENCES