Published in Hum Genet on November 07, 2008
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Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome. Hum Mol Genet (2016) 0.78
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Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res (2000) 1.37
MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology (2001) 1.36
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. J Med Genet (2006) 1.35
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A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet (2002) 1.18
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics (2002) 1.17
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A (2003) 1.13
Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Hum Mol Genet (2008) 1.11
MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A (2007) 1.08
A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology (2002) 0.98
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol (2008) 0.97
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Treatment of epilepsy in Rett syndrome. Eur J Paediatr Neurol (2006) 0.82
Clinically relevant concentrations of valproic acid modulate melatonin MT(1) receptor, HDAC and MeCP2 mRNA expression in C6 glioma cells. Eur J Pharmacol (2008) 0.79
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The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med (2003) 3.28
Stochastic yet biased expression of multiple Dscam splice variants by individual cells. Nat Genet (2004) 3.27
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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Mice cloned from olfactory sensory neurons. Nature (2004) 2.90
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet (2004) 2.89
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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci (2009) 2.35
Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics (2007) 2.30
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab (2006) 2.27
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The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis (2008) 1.97
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
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The human placenta methylome. Proc Natl Acad Sci U S A (2013) 1.86
A PtdIns4,5P2-regulated nuclear poly(A) polymerase controls expression of select mRNAs. Nature (2008) 1.79
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Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases. Genome Res (2012) 1.59
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Hum Mol Genet (2004) 1.56
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet (2005) 1.51
Extensive sequence-influenced DNA methylation polymorphism in the human genome. Epigenetics Chromatin (2010) 1.43
Monoallelic expression and asynchronous replication of p120 catenin in mouse and human cells. J Biol Chem (2004) 1.42
X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Hum Mol Genet (2004) 1.40
Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum Mol Genet (2006) 1.37
The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep (2010) 1.37
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin (2010) 1.34
Large-scale methylation domains mark a functional subset of neuronally expressed genes. Genome Res (2011) 1.34
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Coordinated replication timing of monoallelically expressed genes along human autosomes. Hum Mol Genet (2004) 1.32
Autosomal monoallelic expression in the mouse. Genome Biol (2012) 1.30
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab (2010) 1.30
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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Sci (2008) 1.26
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Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Hum Mol Genet (2009) 1.21
Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation. Mol Cell Biol (2012) 1.20
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
MECP2 promoter methylation and X chromosome inactivation in autism. Autism Res (2008) 1.19
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MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum Genet (2002) 1.18
Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation. Hum Mol Genet (2012) 1.12
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Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients. BMC Med Genet (2006) 1.08
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis (2010) 1.08
Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet (2008) 1.06
Dynamic changes in Histone H3 lysine 9 acetylation localization patterns during neuronal maturation require MeCP2. Epigenetics (2007) 1.05
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genet (2008) 1.04
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Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr (2003) 1.01
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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet (2002) 1.00
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A deletion at the mouse Xist gene exposes trans-effects that alter the heterochromatin of the inactive X chromosome and the replication time and DNA stability of both X chromosomes. Genetics (2006) 0.98
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum Mol Genet (2013) 0.98
Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation (2011) 0.98
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. Neurobiol Dis (2011) 0.95
An epigenetic state associated with areas of gene duplication. Genome Res (2006) 0.95
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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One (2011) 0.92
Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis. Epigenetics (2011) 0.90
Small-Magnitude Effect Sizes in Epigenetic End Points are Important in Children's Environmental Health Studies: The Children's Environmental Health and Disease Prevention Research Center's Epigenetics Working Group. Environ Health Perspect (2017) 0.90
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Source document verification in the Mucopolysaccharidosis Type I Registry. Pharmacoepidemiol Drug Saf (2011) 0.84
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Neuronal chromatin dynamics of imprinting in development and disease. J Cell Biochem (2011) 0.82
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CRB1: one gene, many phenotypes. Semin Ophthalmol (2013) 0.80
A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol (2006) 0.78
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