(Q37410689)

20 August 2017

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. (English)

1 reference

20 August 2017

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Steven A Skinner

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Jeffrey L. Neul

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

12

Alan K Percy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

7

Walter E Kaufmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

6

Daniel G Glaze

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

4

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

3

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Samin A Sajan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Shalini N Jhangiani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Fran Annese

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Michael J Friez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Jane Lane

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

language of work or name

English

0 references

publication date

12 May 2016

1 reference

20 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

13-19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.42

5 June 2020

exact match

0 references

cites work

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

MECP2 disorders: from the clinic to mice and back

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

The contribution of de novo coding mutations to autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

De novo mutations in moderate or severe intellectual disability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Developmental delay in Rett syndrome: data from the natural history study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Genome sequencing identifies major causes of severe intellectual disability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Autism genes keep turning up chromatin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

De novo mutations in epileptic encephalopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

HDAC inhibitors dysregulate neural stem cell activity in the postnatal mouse brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Rett syndrome: revised diagnostic criteria and nomenclature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Key clinical features to identify girls with CDKL5 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

FOXG1 is responsible for the congenital variant of Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Rett syndrome in Australia: a review of the epidemiology.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Rett syndrome: North American database

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Large-scale discovery of novel genetic causes of developmental disorders

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5107176

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27171548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171548%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference