(Q36545755)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

review article

1 reference

title

Rett syndrome: new clinical and molecular insights (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Sarah L Williamson

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

1 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

896-903

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865103%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

27 December 2019

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

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Early onset seizures and Rett-like features associated with mutations in CDKL5.

21 January 2018

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

21 January 2018

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Nurse recognition of early deviation in development in home videos of infants with Rett disorder.

21 January 2018

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Is the early development of girls with Rett disorder really normal?

21 January 2018

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

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Rett syndrome: clinical manifestations in males with MECP2 mutations

21 January 2018

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Occurrence of Rett syndrome in boys.

21 January 2018

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Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

21 January 2018

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MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

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Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

21 January 2018

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Guidelines for reporting clinical features in cases with MECP2 mutations.

21 January 2018

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

21 January 2018

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The Ski protein family is required for MeCP2-mediated transcriptional repression

21 January 2018

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Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing

21 January 2018

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

21 January 2018

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The major form of MeCP2 has a novel N-terminus generated by alternative splicing

21 January 2018

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

21 January 2018

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RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

21 January 2018

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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.

21 January 2018

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

21 January 2018

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Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

21 January 2018

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Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

21 January 2018

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Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

21 January 2018

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Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.

21 January 2018

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Parental origin of de novo MECP2 mutations in Rett syndrome

21 January 2018

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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

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Functional disomy resulting from duplications of distal Xq in four unrelated patients.

21 January 2018

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

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Functional disomy of the Xq28 chromosome region

21 January 2018

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

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Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

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MECP2 is highly mutated in X-linked mental retardation

21 January 2018

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A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

21 January 2018

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Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

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Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

21 January 2018

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Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

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Absence of MeCP2 mutations in patients from the South Carolina autism project

21 January 2018

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Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

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Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

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DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

21 January 2018

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

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DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

21 January 2018

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Integrative analysis of the cancer transcriptome

21 January 2018

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Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

21 January 2018

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

21 January 2018

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

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Rett syndrome: clinical review and genetic update

21 January 2018

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Results of surgery for scoliosis in Rett syndrome

21 January 2018

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Effect of topiramate on seizures and respiratory dysrhythmia in Rett syndrome

21 January 2018

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Clinical trials and treatment prospects

21 January 2018

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Rett syndrome: randomized controlled trial of L-carnitine

21 January 2018

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Reduced folate transport to the CNS in female Rett patients

21 January 2018

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Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.

21 January 2018

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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

21 January 2018

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

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Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

21 January 2018

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7 January 2021

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

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7 January 2021

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence

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7 January 2021

Two affected boys in a Rett syndrome family: clinical and molecular findings

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7 January 2021

MeCP2 mutations in children with and without the phenotype of Rett syndrome

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7 January 2021

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

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7 January 2021

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

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7 January 2021

Large genomic rearrangements in MECP2

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7 January 2021

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

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7 January 2021

Facilitating communication in children with multiple disabilities: three case studies of girls with Rett syndrome

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7 January 2021

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment.

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7 January 2021

Electrocardiographic findings in Rett syndrome: an explanation for sudden death?

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7 January 2021

On the genetics of Rett syndrome: analysis of family and pedigree data.

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7 January 2021

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

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7 January 2021