| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Francesca Mari | Q47338736 |
| Vania Broccoli | Q54438131 | ||
| Sara Ricciardi | Q55692087 | ||
| Ilaria Meloni | Q56750132 | ||
| Alessandra Renieri | Q56750143 | ||
| Joussef Hayek | Q56986307 | ||
| Francesca Ariani | Q57051317 | ||
| P2093 | author name string | Michele Zappella | |
| Ilaria Longo | |||
| Maria Antonietta Mencarelli | |||
| Sabrina Buoni | |||
| Marzia Pollazzon | |||
| Ottavia Spiga | |||
| Rosangela Artuso | |||
| Ariele Spanhol-Rosseto | |||
| Dalila Rondinella | |||
| Giuseppe Hayek | |||
| P2860 | cites work | Rett syndrome in adolescent and adult females: clinical and molecular genetic findings | Q73924688 |
| An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 | Q78369107 | ||
| MECP2 deletions and genotype-phenotype correlation in Rett syndrome | Q81517463 | ||
| Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9 | Q24298477 | ||
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription | Q24550999 | ||
| Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation | Q28117650 | ||
| The story of Rett syndrome: from clinic to neurobiology | Q28256549 | ||
| Brain factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanisms | Q28504931 | ||
| Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis | Q28511665 | ||
| Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres | Q28513462 | ||
| Telencephalon-restricted expression of BF-1, a new member of the HNF-3/fork head gene family, in the developing rat brain | Q28576316 | ||
| The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells | Q28588455 | ||
| Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. | Q34332048 | ||
| Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly | Q34447099 | ||
| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
| Preserved speech variant is allelic of classic Rett syndrome | Q41924637 | ||
| Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients | Q48000965 | ||
| Italian Rett database and biobank. | Q48082652 | ||
| Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis | Q48459708 | ||
| Rett syndrome: report of eight cases | Q48543785 | ||
| Rett syndrome in Spain: mutation analysis and clinical correlations | Q48692947 | ||
| Rett variants: a suggested model for inclusion criteria | Q50304366 | ||
| The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes. | Q51975378 | ||
| Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | Q52168328 | ||
| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. | Q52588103 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| FOXG1 | Q17928632 | ||
| Rett syndrome | Q917357 | ||
| P304 | page(s) | 89-93 | |
| P577 | publication date | 2008-07-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | FOXG1 is responsible for the congenital variant of Rett syndrome | |
| P478 | volume | 83 |
| Q36404068 | 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. |
| Q36809678 | 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. |
| Q33670794 | A FOXG1 mutation in a boy with congenital variant of Rett syndrome |
| Q50055846 | A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network |
| Q41929340 | A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder |
| Q36064157 | A child with mosaicism for deletion (14)(q11.2q13). |
| Q27326701 | A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? |
| Q37449507 | A plasma proteomic approach in Rett syndrome: classical versus preserved speech variant. |
| Q35545948 | A winged-helix transcription factor foxg1 induces expression of mss4 gene in rat hippocampal progenitor cells |
| Q96430998 | AAV-mediated FOXG1 gene editing in human Rett primary cells |
| Q90095620 | Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome |
| Q36006568 | Adult Phenotypes in Angelman- and Rett-Like Syndromes |
| Q36475027 | Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice |
| Q37114126 | An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development |
| Q38735486 | An update on stem cell biology and engineering for brain development |
| Q35546503 | Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome |
| Q52606025 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. |
| Q64039399 | Analysis of the Phenotypes in the Rett Networked Database |
| Q38362615 | Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases |
| Q37115396 | Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations |
| Q92267109 | Assessment of genetic variant burden in epilepsy-associated brain lesions |
| Q34328161 | Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature |
| Q30405485 | Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation |
| Q35533684 | CAGE-defined promoter regions of the genes implicated in Rett Syndrome. |
| Q38375116 | Clinical and biological progress over 50 years in Rett syndrome. |
| Q51918192 | Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. |
| Q91971254 | Cognition and Evolution of Movement Disorders of FOXG1-Related Syndrome |
| Q38040446 | Complex single gene disorders and epilepsy. |
| Q38186677 | Concise review: forkhead pathway in the control of adult neurogenesis |
| Q92874320 | Cortical Seizures in FoxG1+/- Mice are Accompanied by Akt/S6 Overactivation, Excitation/Inhibition Imbalance and Impaired Synaptic Transmission |
| Q47366285 | Current developments in the genetics of Rett and Rett-like syndrome |
| Q37102106 | Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes |
| Q50304287 | Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders |
| Q57719877 | Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes |
| Q34271260 | Deletions of chromosomal regulatory boundaries are associated with congenital disease |
| Q59798714 | Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy |
| Q27348304 | Delineation of the movement disorders associated withFOXG1mutations: Table 1 |
| Q37608236 | Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing |
| Q93111930 | Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects |
| Q33564995 | Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. |
| Q34629298 | Drosophila modeling of heritable neurodevelopmental disorders |
| Q34576300 | Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment |
| Q28507651 | Dynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plate |
| Q35503955 | Dysregulation of FOXG1 by ring chromosome 14. |
| Q44707117 | Emerging Monogenic Complex Hyperkinetic Disorders. |
| Q37410689 | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. |
| Q64099718 | Epilepsy and genetic in Rett syndrome: A review |
| Q34695378 | Epilepsy and outcome in FOXG1-related disorders |
| Q38045465 | Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. |
| Q54654702 | Epilepsy in Rett syndrome: clinical and genetic features. |
| Q52779068 | Expanding the neurodevelopmental phenotype of PURA syndrome. |
| Q91871855 | FOXG1 Dose in Brain Development |
| Q54199836 | FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. |
| Q41934633 | FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome |
| Q38702643 | FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. |
| Q28973611 | FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders |
| Q36006595 | FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. |
| Q92906364 | FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms |
| Q52149369 | Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. |
| Q48634788 | Foxg1 has an essential role in postnatal development of the dentate gyrus. |
| Q51924168 | Foxg1 is required for proper separation and formation of sensory cristae during inner ear development. |
| Q36300172 | Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics |
| Q38100616 | Functional implications of hippocampal adult neurogenesis in intellectual disabilities |
| Q92597320 | Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges |
| Q34689960 | Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models |
| Q38212652 | Genetic disorders associated with postnatal microcephaly |
| Q92399774 | Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets |
| Q85175198 | Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways |
| Q36600641 | Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome |
| Q91957857 | HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans |
| Q48924402 | Hierarchical temporal processing deficit model of reality distortion and psychoses. |
| Q42049161 | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| Q33387075 | Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. |
| Q46242568 | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. |
| Q36763149 | Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice |
| Q34426151 | Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction. |
| Q36886682 | Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. |
| Q26772019 | Induced Pluripotent Stem Cells as a Novel Tool in Psychiatric Research |
| Q30717719 | InterRett, a model for international data collection in a rare genetic disorder |
| Q35132379 | Investigation of modifier genes within copy number variations in Rett syndrome |
| Q36112113 | Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1 |
| Q93111529 | Knockdown of Foxg1 in supporting cells increases the trans-differentiation of supporting cells into hair cells in the neonatal mouse cochlea |
| Q50225101 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning |
| Q64153803 | MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives |
| Q36578835 | MeCP2 modulates gene expression pathways in astrocytes |
| Q37632847 | MeCP2-Related Diseases and Animal Models |
| Q38821957 | MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling |
| Q51839239 | Methodological note: video analysis of the early development of Rett syndrome--one method for many disciplines. |
| Q35492500 | Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome |
| Q37697385 | Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies |
| Q38725769 | Modeling autism spectrum disorders with human neurons |
| Q41934849 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. |
| Q47646470 | Monogenic disorders that mimic the phenotype of Rett syndrome. |
| Q37599744 | Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability |
| Q51850375 | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. |
| Q91137635 | Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia |
| Q35722175 | Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. |
| Q34752707 | Neuromolecular responses to social challenge: common mechanisms across mouse, stickleback fish, and honey bee. |
| Q92542992 | New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies |
| Q33665478 | Noninvasive in vivo monitoring of tissue-specific global gene expression in humans |
| Q41554454 | Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. |
| Q31155726 | Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression |
| Q50309402 | Oxidative stress in Rett syndrome: natural history, genotype, and variants. |
| Q48003569 | Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations |
| Q37145746 | Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay |
| Q36049510 | Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil |
| Q92178215 | Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes |
| Q64940283 | Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders. |
| Q37216143 | Pharmacology and genetics of autism: implications for diagnosis and treatment |
| Q47800468 | Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies |
| Q48266844 | Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin |
| Q28587447 | Phosphorylation on threonine 11 of β-dystrobrevin alters its interaction with kinesin heavy chain |
| Q37317012 | Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. |
| Q30527828 | Preclinical research in Rett syndrome: setting the foundation for translational success. |
| Q28115646 | Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes |
| Q43177580 | Questionable pathogenicity of FOXG1 duplication. |
| Q37069506 | Recent advances in genetics of chorea |
| Q26777746 | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| Q38514719 | Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization |
| Q47229502 | Regulatory variants of FOXG1 in the context of its topological domain organisation. |
| Q45895713 | Reply to Amor et al. |
| Q59047735 | Rett Syndrome: Coming to Terms with Treatment |
| Q90072101 | Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene |
| Q43509278 | Rett networked database: an integrated clinical and genetic network of Rett syndrome databases |
| Q34402592 | Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission |
| Q50422613 | Rett syndrome: a neurological disorder with metabolic components |
| Q37294375 | Rett syndrome: a wide clinical and autonomic picture. |
| Q24596295 | Rett syndrome: revised diagnostic criteria and nomenclature |
| Q52853889 | Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. |
| Q41937481 | Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant |
| Q37961732 | Role of H3K4 demethylases in complex neurodevelopmental diseases |
| Q34511024 | Setdb1-mediated histone H3K9 hypermethylation in neurons worsens the neurological phenotype of Mecp2-deficient mice |
| Q43204278 | Sleep Disorders in Childhood Neurological Diseases |
| Q44533838 | Somatic mosaicism for a FOXG1 mutation: diagnostic implication |
| Q29614572 | Spatio-temporal transcriptome of the human brain |
| Q58798944 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome |
| Q89487559 | Stem Cells for Improving the Treatment of Neurodevelopmental Disorders |
| Q43535045 | Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. |
| Q64070286 | Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice |
| Q51384603 | Subclinical myocardial dysfunction in Rett syndrome. |
| Q38125969 | Synaptic plasticity and signaling in Rett syndrome. |
| Q28511185 | TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons |
| Q36677342 | Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation |
| Q39736524 | The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons |
| Q33924011 | The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis |
| Q41927471 | The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy |
| Q36443010 | The relationship of Rett syndrome and MECP2 disorders to autism. |
| Q33762214 | The role of MeCP2 in brain development and neurodevelopmental disorders |
| Q38023570 | The role of oxidative stress in Rett syndrome: an overview. |
| Q41986666 | The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| Q90218457 | Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders |
| Q35154238 | Trends in the diagnosis of Rett syndrome in Australia. |
| Q38964644 | Using Induced Pluripotent Stem Cells to Investigate Complex Genetic Psychiatric Disorders |
| Q90173981 | Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome |
| Q38921134 | Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan |
| Q55091457 | When Rett syndrome is due to genes other than MECP2. |
| Q30823060 | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype |
| Q35849292 | X-chromosome inactivation in rett syndrome human induced pluripotent stem cells |
| Q35555588 | iPS cells to model CDKL5-related disorders. |
Search more.