The phenotype associated with a large deletion on MECP2. (Q36170434)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

The phenotype associated with a large deletion on MECP2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

6

1 reference

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27 January 2020

Helen Leonard

7

1 reference

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27 January 2020

3

Alan Percy

1 reference

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27 January 2020

2

Jenny Downs

1 reference

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27 January 2020

author name string

Ami Bebbington

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Mercé Pineda

4

1 reference

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27 January 2020

Bruria Ben Zeev

5

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27 January 2020

publication date

4 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 January 2020

published in

1 reference

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27 January 2020

volume

20

1 reference

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27 January 2020

issue

9

1 reference

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27 January 2020

page(s)

921-927

1 reference

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InterRett, a model for international data collection in a rare genetic disorder

27 January 2020

cites work

1 reference

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1 October 2017

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Rett syndrome: revised diagnostic criteria and nomenclature

1 October 2017

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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

1 October 2017

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Level of purposeful hand function as a marker of clinical severity in Rett syndrome

1 October 2017

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Epilepsy and the natural history of Rett syndrome.

1 October 2017

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Profiling scoliosis in Rett syndrome

1 October 2017

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

1 October 2017

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Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

1 October 2017

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The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

1 October 2017

1 reference

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Recent advances in MeCP2 structure and function

1 October 2017

1 reference

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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

1 October 2017

1 reference

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

1 October 2017

1 reference

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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Sleep problems in Rett syndrome

1 October 2017

1 reference

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Seizures in Rett syndrome: an overview from a one-year calendar study

1 October 2017

1 reference

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Predictors of seizure onset in Rett syndrome.

1 October 2017

1 reference

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Review: a gentle introduction to imputation of missing values

1 October 2017

1 reference

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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Rett syndrome in Australia: a review of the epidemiology.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Describing the phenotype in Rett syndrome using a population database

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Rett syndrome and MeCP2: linking epigenetics and neuronal function

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Longitudinal hand function in Rett syndrome.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421119

Epilepsy in Rett syndrome: clinical and genetic features.

23 September 2018

1 reference

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Valproate and risk of fracture in Rett syndrome

23 September 2018

1 reference

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Predictors of scoliosis in Rett syndrome.

23 September 2018

1 reference

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

23 September 2018

1 reference

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

23 September 2018

1 reference

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

23 September 2018

1 reference

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Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22473088

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/22473088

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22473088

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

22473088

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json