(Q73692260)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12872251%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12872251%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

0 references

Schollen E

1

1 reference

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6 November 2019

Smeets E

2

1 reference

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6 November 2019

Deflem E

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12872251%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Fryns JP

4

1 reference

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6 November 2019

Matthijs G

5

1 reference

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6 November 2019

publication date

1 August 2003

1 reference

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6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12872251%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

22

1 reference

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6 November 2019

issue

2

1 reference

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6 November 2019

page(s)

116-120

1 reference

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Rett syndrome: Criteria for inclusion and exclusion

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Guidelines for reporting clinical features in cases with MECP2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Rett syndrome and MeCP2: linking epigenetics and neuronal function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10242

7 January 2021

Identifiers

DOI

10.1002/HUMU.10242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12872251%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference