Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

(2012) Sima Kheradmand Kia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) A. James Barkovich et al.   BRAIN

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis

(2012) Chloe Quelin et al.   European Journal of Medical Genetics

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

(2011) Max A Tischfield et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

(2011) Damien L. Bruno et al.   HUMAN MUTATION

Recessive LAMC3 mutations cause malformations of occipital cortical development

(2011) Tanyeri Barak et al.   NATURE GENETICS

TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria

(2011) A. C. Jansen et al.   NEUROLOGY

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

(2010) Richard J. Leventer et al.   BRAIN

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

(2010) Maria M. Alves et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Current concepts of polymicrogyria

(2010) A. James Barkovich   NEURORADIOLOGY

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN 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

KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome

(2008) D. A. Lyons et al.   DEVELOPMENT

Current significance of meconium plug syndrome

(2008) Scott J. Keckler et al.   JOURNAL OF PEDIATRIC SURGERY