NTNG1 mutations are a rare cause of Rett syndrome (Q24644799)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16502428%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

NTNG1 mutations are a rare cause of Rett syndrome (English)

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17 January 2020

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6

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17 January 2020

John Christodoulou

7

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17 January 2020

author name string

Hayley L Archer

1

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17 January 2020

Julie C Evans

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17 January 2020

David S Millar

3

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17 January 2020

Peter W Thompson

4

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17 January 2020

Alison M Kerr

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17 January 2020

David Ravine

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17 January 2020

Lazarus Lazarou

9

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17 January 2020

Lucy Grove

10

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17 January 2020

Christopher Verity

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17 January 2020

Sharon D Whatley

12

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17 January 2020

Daniela T Pilz

13

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17 January 2020

Julian R Sampson

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17 January 2020

Angus J Clarke

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17 January 2020

language of work or name

English

0 references

publication date

1 April 2006

1 reference

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American Journal of Medical Genetics

17 January 2020

published in

1 reference

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17 January 2020

volume

140

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17 January 2020

issue

7

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17 January 2020

page(s)

691-694

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

17 January 2020

cites work

1 reference

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

7 April 2017

1 reference

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The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons

7 April 2017

1 reference

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

A family-based association study and gene expression analyses of netrin-G1 and -G2 genes in schizophrenia

7 April 2017

1 reference

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Mice with reduced NMDA receptor expression display behaviors related to schizophrenia

7 April 2017

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ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

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Human netrin-G1 isoforms show evidence of differential expression

7 April 2017

1 reference

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

27 September 2017

1 reference

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

Rett syndrome: the complex nature of a monogenic disease

27 September 2017

1 reference

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Describing the phenotype in Rett syndrome using a population database

27 September 2017

1 reference

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Neurobiology of Rett syndrome: a genetic disorder of synapse development

27 September 2017

1 reference

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Involvement of basal ganglia transmitter systems in movement initiation

27 September 2017

1 reference

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

27 September 2017

1 reference

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The clinical recognition and differential diagnosis of Rett syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

The clinical pattern of the Rett syndrome

30 May 2018

1 reference

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Atypical forms of Rett syndrome.

30 May 2018

1 reference

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Elevated CSF glutamate in Rett syndrome

30 May 2018

1 reference

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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

30 May 2018

1 reference

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Early onset seizures and Rett-like features associated with mutations in CDKL5.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577736

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

28 November 2018

1 reference

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Laminets: laminin- and netrin-related genes expressed in distinct neuronal subsets

28 November 2018

1 reference

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Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome

28 November 2018

1 reference

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Effects of neonatal cholinergic basal forebrain lesions on excitatory amino acid receptors in neocortex

28 November 2018

1 reference

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Neurobiology of Rett syndrome

28 November 2018

1 reference

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N-Methyl-D-aspartate receptor expression in the nucleus tractus solitarii and maturation of hypoxic ventilatory response in the rat

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16502428

12 December 2020

inferred from PubMed ID database lookup

Large genomic rearrangements in MECP2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16502428

12 December 2020

inferred from PubMed ID database lookup

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/16502428

12 December 2020

inferred from PubMed ID database lookup

Complementary expression and neurite outgrowth activity of netrin-G subfamily members

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.31133

7 January 2021

inferred from DOI database lookup

Neurobiology of Rett syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.31133

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.A.31133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16502428%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16502428%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

16502428

1 reference