(Q43146152)

English

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

scientific article published in December 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

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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. (English)

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

0 references

8

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

author name string

Y Petel-Galil

1

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

B Benteer

2

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

Y P Galil

3

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

B B Zeev

4

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

I Greenbaum

5

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

M Vecsler

6

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

B Goldman

7

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

B A Minassian

9

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

E Gak

10

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

language of work or name

0 references

publication date

1 December 2006

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

43

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

12

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

e56

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Nonsense-mediated mRNA decay: terminating erroneous gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Clinical variability in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Functional consequences of Rett syndrome mutations on human MeCP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Formation of mRNA 3' ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Rett's syndrome in the west of Scotland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

25 May 2018

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

Spectrum of MECP2 mutations in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

DHPLC analysis of the MECP2 gene in Italian Rett patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563193

15 August 2018

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17142618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17142618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17142618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/17142618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rett syndrome: epidemiology and geographical variability

1 reference

https://pubmed.ncbi.nlm.nih.gov/17142618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.041285

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 November 2017

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