(Q38301680)

English

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

scientific article published on March 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

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author name string

Nielsen JB

1

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

Henriksen KF

2

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

Hansen C

3

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

Silahtaroglu A

4

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

Schwartz M

5

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

Tommerup N

6

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

publication date

1 March 2001

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

178-184

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

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/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

X inactivation in Rett syndrome: a preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

A comparative study of X-inactivation in Rett syndrome probands and control subjects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening in Rett syndrome patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Rett variants: a suggested model for inclusion criteria.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200600

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200600

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 September 2017

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