| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F |
| P698 | PubMed publication ID | 10805343 |
| P50 | author | Alan K. Percy | Q107392636 |
| Huda Zoghbi | Q1633764 | ||
| P2093 | author name string | Lichtarge O | |
| Van den Veyver IB | |||
| Glaze DG | |||
| Schultz R | |||
| Smith EO | |||
| Philippi A | |||
| Tran CQ | |||
| Timar L | |||
| Malicki DM | |||
| Motil KJ | |||
| Amir RE | |||
| Dahle EJ | |||
| P433 | issue | 5 | |
| P921 | main subject | Rett syndrome | Q917357 |
| P304 | page(s) | 670-679 | |
| P577 | publication date | 2000-05-01 | |
| P1433 | published in | Annals of Neurology | Q564414 |
| P1476 | title | Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes | |
| P478 | volume | 47 |
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| Q98727127 | A Patient with Rett Syndrome Maintained Motor Function by Periodic Rehabilitation Therapy and Proactive Daily Activities |
| Q59196096 | A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease |
| Q104865469 | A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration |
| Q28504458 | A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome |
| Q37216254 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome |
| Q34144191 | A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males |
| Q34460594 | A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease |
| Q38359244 | A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype |
| Q37115396 | Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations |
| Q37529852 | Assessment and management of nutrition and growth in Rett syndrome |
| Q34733527 | Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype |
| Q28584738 | Autonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient mice |
| Q33340948 | Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome |
| Q37265909 | Breathing challenges in Rett syndrome: lessons learned from humans and animal models. |
| Q46114126 | Central nervous system malformations: gene locations of known human mutations |
| Q93223361 | Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing |
| Q48174800 | Choline Ameliorates Disease Phenotypes in Human iPSC Models of Rett Syndrome. |
| Q38375116 | Clinical and biological progress over 50 years in Rett syndrome. |
| Q34733540 | Clinical trials and treatment prospects |
| Q52656126 | Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5. |
| Q43146152 | Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients |
| Q37004830 | 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. |
| Q36344561 | Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with Rett syndrome |
| Q48353057 | DHPLC analysis of the MECP2 gene in Italian Rett patients |
| Q77384593 | Deletion screening by fluorescence in situ hybridization in Rett syndrome patients |
| Q55665109 | Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. |
| Q34144292 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms |
| Q46638661 | Differential distribution of the MeCP2 splice variants in the postnatal mouse brain |
| Q35655203 | Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage |
| Q90198934 | Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome |
| Q31126823 | Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. |
| Q28743688 | Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations |
| Q33919627 | Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome |
| Q36087172 | Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome |
| Q34529963 | Genetics and pathophysiology of mental retardation |
| Q33708273 | IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features |
| Q28207072 | Identification of MeCP2 mutations in a series of females with autistic disorder |
| Q34460527 | Importance of Rett syndrome in child neurology |
| Q79845818 | Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers |
| Q37857439 | Induced pluripotent stem cells: a new revolution for clinical neurology? |
| 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 |
| Q34955419 | Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation |
| Q50760024 | It's a knockout! Male infertility and neuropathology. |
| Q28505346 | Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome |
| Q34020419 | Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. |
| Q34087010 | Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome. |
| Q35834882 | MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy |
| Q50312539 | MECP2 mutation in male patients with non-specific X-linked mental retardation. |
| Q38301680 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern |
| Q74352528 | MECP2 mutations in Swedish Rett syndrome clusters |
| Q24533455 | MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin |
| Q43960963 | Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome |
| Q34193020 | MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H mice |
| Q37632847 | MeCP2-Related Diseases and Animal Models |
| Q30654814 | Methyl CpG binding proteins: coupling chromatin architecture to gene regulation |
| Q28364163 | Methylation matters |
| Q39535251 | Methylation-dependent silencing at the H19 imprinting control region by MeCP2 |
| Q29616516 | Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3 |
| Q92402873 | Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype |
| Q35699310 | Monoallelic expression of the human FOXP2 speech gene |
| Q73593608 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions |
| Q47577126 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome |
| Q28188406 | Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 |
| Q28209903 | Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome |
| Q33910551 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. |
| Q34460547 | Neurobiology and neurochemistry of Rett syndrome |
| Q28180155 | Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) |
| Q35180703 | Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome |
| Q37319332 | Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome |
| Q39224404 | Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis |
| Q36038586 | Over-expression of XIST, the Master Gene for X Chromosome Inactivation, in Females With Major Affective Disorders |
| Q35671678 | Paradoxical role of methyl-CpG-binding protein 2 in Rett syndrome. |
| Q38301670 | Parental origin of de novo MECP2 mutations in Rett syndrome |
| Q56337055 | Pharmacological reactivation of inactive X-linked in cerebral cortical neurons of living mice |
| Q29616332 | Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? |
| Q48693129 | R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. |
| Q37383972 | Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options |
| Q33283941 | Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation |
| Q37292336 | Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model |
| Q42364582 | Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome. |
| Q34460580 | Rethinking the fate of males with mutations in the gene that causes Rett syndrome |
| Q24616417 | Rett syndrome and MeCP2: linking epigenetics and neuronal function |
| Q24680354 | Rett syndrome and the MECP2 gene |
| Q35077740 | Rett syndrome. Current status and new vistas |
| Q34499035 | Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism |
| Q34460607 | Rett syndrome: clinical correlates of the newly discovered gene |
| Q24674633 | Rett syndrome: clinical review and genetic update |
| Q42528390 | Rett syndrome: investigation of nine patients, including PET scan |
| Q30639662 | Rett syndrome: review of biological abnormalities. |
| Q35128931 | Rett syndrome: the complex nature of a monogenic disease |
| Q97554029 | Scrutinizing the molecular, biochemical, and cytogenetic attributes in subjects with Rett syndrome (RTT) and their mothers |
| Q34455774 | Seizures in Rett syndrome: an overview from a one-year calendar study |
| Q34657630 | Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice |
| Q37181805 | Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. |
| Q43819377 | Spectrum of MECP2 mutations in Rett syndrome |
| Q58798944 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome |
| Q36978748 | The Fallacy of Univariate Solutions to Complex Systems Problems |
| Q95840662 | The Influence of Physical Activity and Epigenomics On Cognitive Function and Brain Health in Breast Cancer |
| Q25255816 | The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations |
| Q34262510 | The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population |
| Q34799347 | The role of MeCP2 in CNS development and function |
| Q34460601 | The role of X-chromosome inactivation in the manifestation of Rett syndrome |
| Q48693112 | The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome |
| Q28191447 | The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site |
| Q36310086 | X Chromosome Inactivation in Opioid Addicted Women |
| Q92710242 | X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients |
| Q36020522 | X chromosome inactivation in women with alcoholism |
| Q79276015 | X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers |
| Q33911020 | X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome |
| Q95521782 | [MECP2 gene and MECP2-related diseases] |
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