Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

(2013) Gregory Ryan Handrigan et al.   JOURNAL OF MEDICAL GENETICS

The Centrosomal E3 Ubiquitin Ligase FBXO31-SCF Regulates Neuronal Morphogenesis and Migration

(2013) Mayur Vadhvani et al.   PLoS One

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation

(2012) Matthew G. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Macrocerebellum: Significance and Pathogenic Considerations

(2012) Andrea Poretti et al.   CEREBELLUM

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis

(2011) Ana I. Seixas et al.   ANNALS OF NEUROLOGY

Total and Regional Brain Volumes in a Population-Based Normative Sample from 4 to 18 Years: The NIH MRI Study of Normal Brain Development

(2011)   CEREBRAL CORTEX

Cerebellum Enlargement and Corpus Callosum Agenesis: A Longitudinal Case Report

(2011) Anna Pichiecchio et al.   JOURNAL OF CHILD NEUROLOGY

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

Increased cerebellar volume in the early stage of fucosidosis: a case control study

(2011) Thomas Kau et al.   NEURORADIOLOGY

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased expression of l-amino acid transporters in balloon cells of tuberous sclerosis

(2010) Byung-Chan Lim et al.   CHILDS NERVOUS SYSTEM

A Case of Macrocephaly, Hydrocephalus, Megacerebellum, White Matter Abnormalities and Rosenthal Fibres

(2010) M Torreman et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

F-box protein FBXO31 mediates cyclin D1 degradation to induce G1 arrest after DNA damage

(2009) Manas K. Santra et al.   NATURE