| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1038895897 |
| P356 | DOI | 10.1097/01.GIM.0000250502.28516.3C |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1097/01.gim.0000250502.28516.3c |
| P698 | PubMed publication ID | 17172942 |
| P5875 | ResearchGate publication ID | 6627041 |
| P50 | author | Huda Zoghbi | Q1633764 |
| James R. Lupski | Q6141679 | ||
| Jeffrey L. Neul | Q55459508 | ||
| Neil R Friedman | Q57041090 | ||
| Sau Wai Cheung | Q59829815 | ||
| Fernando Scaglia | Q92223380 | ||
| Daniel G Glaze | Q99546359 | ||
| Christine M. Eng | Q111854443 | ||
| Benjamin B Roa | Q125311491 | ||
| Theresa A Grebe | Q125312234 | ||
| Debra Freedenberg | Q125313003 | ||
| Susan A. Berry | Q37838250 | ||
| P2093 | author name string | Arthur L Beaudet | |
| William J Craigen | |||
| Jennifer A Lee | |||
| Ankita Patel | |||
| Ping Fang | |||
| Mira Irons | |||
| Patricia A Ward | |||
| Rick A Martin | |||
| Daniela del Gaudio | |||
| Amber A Pursley | |||
| Gary E Hsich | |||
| Jena R Khera | |||
| P2860 | cites work | MECP2 mutation in a boy with language disorder and schizophrenia | Q43843065 |
| Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. | Q48490930 | ||
| Rett syndrome: clinical manifestations in males with MECP2 mutations. | Q48650852 | ||
| MECP2 mutation in male patients with non-specific X-linked mental retardation. | Q50312539 | ||
| Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? | Q51932933 | ||
| MECP2 mutation analysis in patients with mental retardation. | Q51935037 | ||
| De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. | Q51955909 | ||
| Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. | Q52087714 | ||
| [Rett phenotype in patient with XXY karyotype: case report] | Q52179208 | ||
| Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. | Q54625530 | ||
| Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males | Q57206738 | ||
| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease | Q57537928 | ||
| Development and validation of a CGH microarray for clinical cytogenetic diagnosis | Q57537935 | ||
| Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex | Q24324026 | ||
| X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. | Q24533546 | ||
| Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice | Q24568049 | ||
| Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
| alpha-Synuclein locus triplication causes Parkinson's disease | Q27860533 | ||
| Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) | Q28180155 | ||
| APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy | Q28288090 | ||
| The major form of MeCP2 has a novel N-terminus generated by alternative splicing | Q28511496 | ||
| MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin | Q28576622 | ||
| BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences | Q29547807 | ||
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| Genome architecture catalyzes nonrecurrent chromosomal rearrangements | Q33904646 | ||
| Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males | Q34021143 | ||
| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination | Q34137518 | ||
| A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males | Q34144191 | ||
| The spectrum of phenotypes in females with Rett Syndrome | Q34212706 | ||
| A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome | Q34307505 | ||
| Segmental duplications: an 'expanding' role in genomic instability and disease | Q34389505 | ||
| Clinical manifestations and stages of Rett syndrome | Q34733485 | ||
| Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits | Q35875197 | ||
| Functional disomy of the Xq28 chromosome region | Q36059400 | ||
| Array-based comparative genomic hybridization in clinical diagnosis | Q36150386 | ||
| MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients | Q36352690 | ||
| Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | Q36927223 | ||
| Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. | Q36993814 | ||
| Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females | Q37203101 | ||
| Patterns of X chromosome inactivation in the Rett syndrome | Q41230681 | ||
| MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. | Q42693482 | ||
| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome | Q43073364 | ||
| MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. | Q43074622 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 784-792 | |
| P577 | publication date | 2006-12-01 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. | |
| P478 | volume | 8 |
| Q35792423 | 17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome |
| Q34386768 | A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| Q51926113 | A genome-wide screen for copy number alterations in Aicardi syndrome. |
| Q33404060 | A microhomology-mediated break-induced replication model for the origin of human copy number variation |
| Q43737132 | A novel X-linked disorder with developmental delay and autistic features |
| Q38359244 | A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype |
| Q34375828 | A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. |
| Q28586765 | A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome |
| Q36311122 | A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. |
| Q37962183 | Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities |
| Q35766441 | Altered neuronal network and rescue in a human MECP2 duplication model. |
| Q46022392 | An RNA interference screen identifies druggable regulators of MeCP2 stability. |
| Q51577045 | An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient. |
| Q50311137 | Analysis of MECP2 gene copy number in boys with autism. |
| Q36901252 | Analysis of X chromosome inactivation in autism spectrum disorders |
| Q37115396 | Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations |
| Q34328586 | Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth |
| Q34515794 | Astrocyte-specific regulation of hMeCP2 expression in Drosophila |
| Q64253274 | Atypical Response Properties of the Auditory Cortex of Awake MECP2-Overexpressing Mice |
| Q33572334 | Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome |
| Q39458224 | Brief report: regression timing and associated features in MECP2 duplication syndrome |
| Q34055765 | CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. |
| Q24632941 | CNV and nervous system diseases--what's new? |
| Q34200572 | Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivo |
| Q91786847 | Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome |
| Q36851578 | Clan genomics and the complex architecture of human disease |
| Q45785550 | Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. |
| Q31077840 | Clinical impacts of genomic copy number gains at Xq28 |
| Q30830662 | Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases |
| Q55098524 | Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders. |
| Q37201006 | Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching |
| Q34019142 | Copy number variation in human health, disease, and evolution |
| Q37899884 | Copy-number changes in prenatal diagnosis |
| Q28728525 | Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements |
| Q51848344 | Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. |
| Q28257072 | Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome |
| Q38305691 | De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation |
| Q41934931 | De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation |
| Q34665890 | Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. |
| Q28909716 | Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations |
| Q50313167 | Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. |
| Q51895423 | Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. |
| Q34775497 | Disorders caused by chromosome abnormalities |
| Q37114117 | Distal Xq duplication and functional Xq disomy. |
| Q91819726 | Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants |
| Q37466137 | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. |
| Q34171414 | Drosophila as a model for MECP2 gain of function in neurons |
| Q34629298 | Drosophila modeling of heritable neurodevelopmental disorders |
| Q34576300 | Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment |
| Q38009386 | Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature |
| Q37615626 | Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies |
| Q38045465 | Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. |
| Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
| Q38860014 | Expanding the clinical picture of the MECP2 Duplication syndrome |
| Q33838894 | Experimental Autoimmune Encephalomyelitis (EAE)-Induced Elevated Expression of the E1 Isoform of Methyl CpG Binding Protein 2 (MeCP2E1): Implications in Multiple Sclerosis (MS)-Induced Neurological Disability and Associated Myelin Damage |
| Q34686591 | Experimental models of Rett syndrome based on Mecp2 dysfunction. |
| Q90419286 | FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus |
| Q37228150 | Failure of neuronal homeostasis results in common neuropsychiatric phenotypes |
| Q34050944 | Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability |
| Q33764293 | GABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpression |
| Q57677438 | Gene therapy for Rett syndrome: prospects and challenges |
| Q35340196 | Gene therapy for the nervous system: challenges and new strategies |
| Q47308286 | Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome. |
| Q34689960 | Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models |
| Q27313791 | Genetic modifiers of MeCP2 function in Drosophila |
| Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
| Q37198442 | Genomic disorders ten years on. |
| Q28302565 | Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange |
| Q50581341 | High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. |
| Q34688430 | High-resolution genomic microarrays for X-linked mental retardation. |
| Q28256854 | Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA |
| Q36708035 | Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p |
| Q51951849 | Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. |
| Q37940158 | Implications of gene copy-number variation in health and diseases. |
| Q62320846 | Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains |
| Q41344253 | Infectious and immunologic phenotype of MECP2 duplication syndrome |
| Q53333704 | Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. |
| Q64046329 | Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype |
| Q64096920 | Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome |
| Q35606491 | Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome |
| Q37081586 | Inverted low-copy repeats and genome instability--a genome-wide analysis |
| Q38992291 | Lessons learned from studying syndromic autism spectrum disorders |
| Q93187579 | Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology |
| Q30367333 | Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome. |
| Q36006573 | MECP2 Duplication Syndrome |
| Q35940880 | MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome |
| Q26799760 | MECP2 disorders: from the clinic to mice and back |
| Q37581158 | MECP2 duplication phenotype in symptomatic females: report of three further cases. |
| Q35870012 | MECP2 duplication syndrome in a Chinese family |
| Q42700300 | MECP2 duplications in six patients with complex sex chromosome rearrangements |
| Q36757032 | MECP2 mutations in males. |
| Q28078563 | Major influence of repetitive elements on disease-associated copy number variants (CNVs) |
| Q35566873 | MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome |
| Q28507266 | MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number |
| Q38957608 | MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors |
| Q64153803 | MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives |
| Q33732160 | MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain. |
| Q50993055 | MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome. |
| Q37632847 | MeCP2-Related Diseases and Animal Models |
| Q38821957 | MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling |
| Q36975128 | Mechanisms for human genomic rearrangements |
| Q26765934 | Mechanisms underlying structural variant formation in genomic disorders |
| Q37164478 | Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA |
| Q41936508 | Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development |
| Q37223275 | Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus |
| Q36101647 | NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation |
| Q38195036 | Non-coding RNAs in chromatin disease involving neurological defects |
| Q34767093 | Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. |
| Q33699316 | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
| Q84136248 | Novel clinical finding in MECP2 duplication syndrome |
| Q37332236 | Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders. |
| Q39906796 | Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses |
| Q37216143 | Pharmacology and genetics of autism: implications for diagnosis and treatment |
| Q37057760 | Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives |
| Q64121287 | Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function |
| Q24629022 | Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation |
| Q36540413 | Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice |
| Q36222710 | Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system. |
| Q26772909 | Rett Syndrome: Crossing the Threshold to Clinical Translation |
| Q50310996 | Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. |
| Q33915332 | Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice |
| Q90122554 | Reversal of Social Recognition Deficit in Adult Mice with MECP2 Duplication via Normalization of MeCP2 in the Medial Prefrontal Cortex |
| Q47550197 | Second-trimester prenasal and prefrontal skin thickening - association with MECP2 triplication syndrome |
| Q64093059 | Sex Differences in the Effects of Prenatal Bisphenol A Exposure on Genes Associated with Autism Spectrum Disorder in the Hippocampus |
| Q34326032 | Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy |
| Q35765423 | Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities |
| Q34365749 | Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome |
| Q51909619 | The MECP2 duplication syndrome. |
| Q36628431 | The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism |
| Q38579867 | The complex genetics in autism spectrum disorders |
| Q90202348 | The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis |
| Q36484372 | The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. |
| Q37294982 | The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability |
| Q36443010 | The relationship of Rett syndrome and MECP2 disorders to autism. |
| Q37052357 | The utility of chromosomal microarray analysis in developmental and behavioral pediatrics |
| Q37140070 | The yin and yang of MeCP2 phosphorylation |
| Q34088379 | X-linked intellectual disability: unique vulnerability of the male genome |
| Q34736415 | XLMR genes: update 2007. |
| Q38985861 | Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? |
| Q34326039 | Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance |
| Q36060920 | Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation |
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