Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

The hyperkinetic movement disorder ofFOXG1-related epileptic-dyskinetic encephalopathy

(2015) Elena Cellini et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A large-scale functional screen identifies Nova1 and Ncoa3 as regulators of neuronal miRNA function

(2015) P. H. Storchel et al.   EMBO JOURNAL

Dysregulation ofFOXG1pathway in a 14q12 microdeletion case

(2013) Olivier Perche et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome

(2013) Akira Kumakura et al.   BRAIN & DEVELOPMENT

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

(2013) Masaki Takagi et al.   European Journal of Medical Genetics

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

(2012) Carolyn J Ellaway et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

(2012) Lila Allou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

(2009) Francois Dominique Jacob et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

(2009) Ivan Y. Iourov et al.   HUMAN MOLECULAR GENETICS

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

(2008) Filomena Tiziana Papa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A