Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

ADP-Stimulated Activation of Akt During Integrin Outside-In Signaling Promotes Platelet Spreading by Inhibiting Glycogen Synthase Kinase-3β

(2012) Kelly A. O’Brien et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

Questionable pathogenicity of FOXG1 duplication

(2012) David J Amor 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

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies

(2012) Marjolein H. Willemsen et al.   European Journal of Medical Genetics

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

(2012) Christophe Goubau et al.   GENETICS IN MEDICINE

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

(2012) Gijs W E Santen et al.   JOURNAL OF MEDICAL GENETICS

Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1

(2012) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

Foxg1 Has an Essential Role in Postnatal Development of the Dentate Gyrus

(2012) C. Tian et al.   JOURNAL OF NEUROSCIENCE

Dynamic FoxG1 Expression Coordinates the Integration of Multipolar Pyramidal Neuron Precursors into the Cortical Plate

(2012) Goichi Miyoshi et al.   NEURON

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

(2011) Edina Torgyekes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

(2011) Jun Tohyama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Crosstalk between NOTCH and AKT signaling during murine megakaryocyte lineage specification

(2011) M. G. Cornejo et al.   BLOOD

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

FoxG1 Promotes the Survival of Postmitotic Neurons

(2011) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

(2011) Michela Di Michele et al.   Journal of Proteomics

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano et al.   NEUROLOGY

Rett syndrome: Revised diagnostic criteria and nomenclature

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

FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation

(2010) M. Roth et al.   DEVELOPMENT

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Foxp3 Regulates Megakaryopoiesis and Platelet Function

(2009) Jamie J. Bernard et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The microtubule modulator RanBP10 plays a critical role in regulation of platelet discoid shape and degranulation

(2009) S. Kunert et al.   BLOOD

Integration of Telencephalic Wnt and Hedgehog Signaling Center Activities by Foxg1

(2009) Catherine Danesin et al.   DEVELOPMENTAL CELL

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

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

(2009) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

Involvement of cAMP/Epac/PI3K-dependent pathway in the antiproteolytic effect of epinephrine on rat skeletal muscle

(2009) Amanda Martins Baviera et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Protein kinase D1 regulates cofilin-mediated F-actin reorganization and cell motility through slingshot

(2009) Tim Eiseler et al.   NATURE CELL BIOLOGY

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

(2009) Nadia Bahi-Buisson et al.   NEUROGENETICS

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