(Q43168346)

15 November 2017

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

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15 November 2017

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atypical Rett syndrome

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17

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15 November 2017

20

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15 November 2017

H L Archer

1

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15 November 2017

S D Whatley

2

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15 November 2017

J C Evans

3

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15 November 2017

D Ravine

4

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15 November 2017

P Huppke

5

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15 November 2017

A Kerr

6

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15 November 2017

D Bunyan

7

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15 November 2017

B Kerr

8

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15 November 2017

E Sweeney

9

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15 November 2017

S J Davies

10

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15 November 2017

W Reardon

11

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15 November 2017

J Horn

12

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15 November 2017

K D MacDermot

13

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15 November 2017

R A Smith

14

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15 November 2017

A Magee

15

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15 November 2017

A Donaldson

16

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15 November 2017

G Hermon

18

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15 November 2017

Z Miedzybrodzka

19

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15 November 2017

L Lazarou

21

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15 November 2017

R Butler

22

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15 November 2017

J Sampson

23

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15 November 2017

D T Pilz

24

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15 November 2017

F Laccone

25

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15 November 2017

A J Clarke

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15 November 2017

language of work or name

English

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publication date

23 September 2005

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Journal of Medical Genetics

15 November 2017

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15 November 2017

43

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15 November 2017

5

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15 November 2017

451-456

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IRAK1 serves as a novel regulator essential for lipopolysaccharide-induced interleukin-10 gene expression

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Signatures of selection and gene conversion associated with human color vision variation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Mind and brain in Rett disorder

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Guidelines for reporting clinical features in cases with MECP2 mutations.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Rett syndrome: a surprising result of mutation in MECP2.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Epidemiology of Rett syndrome: a population-based registry.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

A study of the natural history of Rett syndrome in 23 girls.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Spectrum of MECP2 mutations in Rett syndrome

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

MECP2 mutations account for most cases of typical forms of Rett syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564520

Predictive value of the early clinical signs in Rett disorder

15 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Rett syndrome: epidemiology and geographical variability

1 reference

12 December 2020

Rett syndrome in females with CTS hot spot deletions: a disorder profile

1 reference

12 December 2020

Large genomic rearrangements in MECP2

1 reference

12 December 2020

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

12 December 2020

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

1 reference

12 December 2020

MECP2 mutation screening in Swedish classical Rett syndrome females

1 reference

12 December 2020

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients

1 reference

12 December 2020

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.033464

1 reference

15 November 2017

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15 November 2017

1 reference