| scholarly article | Q13442814 |
| P50 | author | Bernard Dan | Q45698694 |
| P2093 | author name string | E E J Smeets | |
| K Pelc | |||
| P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
| CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila | Q24315560 | ||
| Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex | Q24324026 | ||
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 | ||
| Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice | Q24651541 | ||
| Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes | Q24670122 | ||
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) | Q24682812 | ||
| Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) | Q28180155 | ||
| The story of Rett syndrome: from clinic to neurobiology | Q28256549 | ||
| A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome | Q28586765 | ||
| Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice | Q28587722 | ||
| DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation | Q28591717 | ||
| Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2 | Q28941210 | ||
| Reversal of neurological defects in a mouse model of Rett syndrome | Q29616452 | ||
| Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3 | Q29616516 | ||
| The use of botulinum toxin in head and face medicine: an interdisciplinary field | Q30495164 | ||
| Neuropathology of Rett syndrome | Q30703376 | ||
| Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry | Q30707242 | ||
| Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. | Q33614120 | ||
| Methyl-CpG binding proteins: specialized transcriptional repressors or structural components of chromatin? | Q33864653 | ||
| Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males | Q34021143 | ||
| A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases | Q34056069 | ||
| Rett syndrome: clinical characteristics and recent genetic advances | Q34180036 | ||
| On a unusual brain atrophy syndrome in hyperammonemia in childhood | Q34230621 | ||
| Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. | Q34698021 | ||
| Rett syndrome: the complex nature of a monogenic disease | Q35128931 | ||
| Trends in the diagnosis of Rett syndrome in Australia. | Q35154238 | ||
| A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. | Q35249570 | ||
| Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder | Q35270725 | ||
| When enough is enough: genetic diseases associated with transcriptional derepression | Q35789580 | ||
| Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement | Q36304914 | ||
| Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation | Q36321164 | ||
| Rett syndrome in Sweden. Neurodevelopment--disability--pathophysiology | Q36607813 | ||
| MECP2 mutations in males. | Q36757032 | ||
| Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. | Q37004830 | ||
| Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth | Q37379871 | ||
| A study of the treatment of Rett syndrome with folate and betaine | Q37383682 | ||
| Updating the profile of C-terminal MECP2 deletions in Rett syndrome | Q37554516 | ||
| Angelman syndrome: current understanding and research prospects. | Q37623913 | ||
| Clinical and genetic aspects of Angelman syndrome | Q37743131 | ||
| Epilepsy in Rett syndrome---the experience of a National Rett Center | Q37759048 | ||
| From stem cells to neural networks: recent advances and perspectives for neurodevelopmental disorders | Q37810612 | ||
| Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome | Q37840675 | ||
| Parental origin of de novo MECP2 mutations in Rett syndrome | Q38301670 | ||
| Head growth in Rett syndrome | Q40672816 | ||
| MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome | Q40808969 | ||
| Patterns of X chromosome inactivation in the Rett syndrome | Q41230681 | ||
| Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells | Q41875361 | ||
| Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. | Q42464356 | ||
| Rett syndrome--an early catecholamine and indolamine deficient disorder? | Q43805920 | ||
| Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation | Q46603700 | ||
| The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome | Q46628392 | ||
| Observations on hand movements in Rett syndrome: a pilot study | Q47629597 | ||
| Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome | Q47722511 | ||
| Disturbances in cardiorespiratory function during day and night in Rett syndrome | Q48453688 | ||
| Management of a severe forceful breather with Rett syndrome using carbogen. | Q48497735 | ||
| The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression | Q48667829 | ||
| The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome | Q48693112 | ||
| Occurrence of Rett syndrome in boys | Q48856336 | ||
| Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. | Q51717808 | ||
| Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. | Q51887118 | ||
| The MECP2 duplication syndrome. | Q51909619 | ||
| Epilepsy in a representative series of Rett syndrome. | Q51969154 | ||
| Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. | Q52087714 | ||
| Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | Q52168328 | ||
| Hand and foot growth failure in Rett syndrome. | Q52189709 | ||
| Postural cortical myoclonus during gait in Rett syndrome. | Q53764435 | ||
| In-frame deletion inMECP2 causes mild nonspecific mental retardation | Q58061411 | ||
| A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients | Q73530772 | ||
| Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome | Q73692260 | ||
| Rett syndrome in adolescent and adult females: clinical and molecular genetic findings | Q73924688 | ||
| MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome | Q77223734 | ||
| The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA | Q77828158 | ||
| Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome | Q77983753 | ||
| 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 | ||
| Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome | Q80184697 | ||
| Rett syndrome in females with CTS hot spot deletions: a disorder profile | Q81094258 | ||
| Cardiorespiratory challenges in Rett's syndrome | Q81460267 | ||
| Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update | Q82532344 | ||
| Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice | Q83099641 | ||
| Rett syndrome and long-term disorder profile | Q83167055 | ||
| P433 | issue | 3-5 | |
| P921 | main subject | Rett syndrome | Q917357 |
| P304 | page(s) | 113-127 | |
| P577 | publication date | 2012-04-16 | |
| P1433 | published in | Molecular syndromology | Q26842514 |
| P1476 | title | Rett Syndrome. | |
| P478 | volume | 2 |
| Q98727127 | A Patient with Rett Syndrome Maintained Motor Function by Periodic Rehabilitation Therapy and Proactive Daily Activities |
| Q55282184 | Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study. |
| Q37620699 | Alterations in the carnitine cycle in a mouse model of Rett syndrome. |
| Q38362615 | Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases |
| Q48087635 | Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life |
| Q24338502 | Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities |
| Q37360746 | Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model |
| Q36670207 | Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands |
| Q47130061 | Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. |
| Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
| Q60921105 | High-fat diet accelerates extreme obesity with hyperphagia in female heterozygous Mecp2-null mice |
| Q58701283 | Loss of Causes Atypical Synaptic and Molecular Plasticity of Parvalbumin-Expressing Interneurons Reflecting Rett Syndrome-Like Sensorimotor Defects |
| Q51760789 | Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process. |
| Q35585527 | Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder |
| Q28274920 | Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome |
| Q36479094 | Synaptic plasticity in mouse models of autism spectrum disorders |
| Q48221262 | Treatment of dyssomnias and parasomnias in childhood |
| Q27318090 | Vascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatment |
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