(Q57421506)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077736%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome (English)

1 reference

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5 January 2020

0 references

1 reference

1

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5 January 2020

Richard P Hastings

13

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5 January 2020

Sheena Reilly

16

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5 January 2020

Hilary Cass

17

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5 January 2020

Mark E. S. Bailey

20

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5 January 2020

author name string

Tracey C S Neilson

2

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5 January 2020

Veronica Mash

3

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5 January 2020

Hayley Archer

4

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5 January 2020

Mary T Gardiner

5

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5 January 2020

Gun P S Knudsen

6

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5 January 2020

Aoibhinn McDonnell

7

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5 January 2020

Jacqueline Perry

8

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5 January 2020

Sharon D Whatley

9

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5 January 2020

David J Bunyan

10

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5 January 2020

Kirstine Ravn

11

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5 January 2020

Rebecca H Mount

12

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5 January 2020

Maj Hulten

14

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5 January 2020

Angus Clarke

18

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5 January 2020

Alison M Kerr

19

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5 January 2020

Karen Helene Orstavik

15

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5 January 2020

publication date

1 October 2005

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European Journal of Human Genetics

5 January 2020

published in

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5 January 2020

volume

13

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5 January 2020

issue

10

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5 January 2020

page(s)

1121-1130

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201471

5 January 2020

exact match

0 references

cites work

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.5201471

Should depression in young school-children be diagnosed with different criteria?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Guidelines for reporting clinical features in cases with MECP2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Rett variants: a suggested model for inclusion criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Refining the phenotype of common mutations in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Towards a full life with Rett disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

Rett's syndrome in the west of Scotland

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

7 January 2021

Clinical delineation of Rett syndrome variants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201471

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201471

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077736%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference