(Q28115816)

English

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

scientific journal article

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scholarly article

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder (English)

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

neurodevelopmental disorder

1 reference

based on heuristic

inferred from title

Forkhead box P1

1 reference

GOA release 2020-03-11

negative regulation of transcription, DNA-templated

1 reference

GOA release 2020-03-11

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sarah A. Graham

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Christian Gilissen

7

1 reference

Europe PubMed Central

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2 March 2020

Pelagia Deriziotis

11

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Europe PubMed Central

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2 March 2020

12

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Europe PubMed Central

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2 March 2020

10

object named as

Han G Brunner

1 reference

Europe PubMed Central

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2 March 2020

8

object named as

Rolph Pfundt

2 references

4 January 2017

Europe PubMed Central

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2 March 2020

Maaike Vreeburg

5

object named as

Maaike Vreeburg

2 references

4 January 2017

Europe PubMed Central

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2 March 2020

author name string

Arianna Vino

3

2 references

4 January 2017

Europe PubMed Central

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2 March 2020

Henning Froehlich

4

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Danai Dimitropoulou

6

2 references

4 January 2017

Europe PubMed Central

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2 March 2020

Gudrun A Rappold

9

1 reference

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2 March 2020

publication date

8 December 2015

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2 March 2020

Human Molecular Genetics

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

25

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4 January 2017

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2 March 2020

546-557

1 reference

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2 March 2020

3

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

De novo mutations in human genetic disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

A forkhead-domain gene is mutated in a severe speech and language disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Clinical whole exome sequencing in child neurology practice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Functional genetic analysis of mutations implicated in a human speech and language disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

De novo TBR1 mutations in sporadic autism disrupt protein functions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Structure of the forkhead domain of FOXP2 bound to DNA

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

The forkhead transcription factors, Foxp1 and Foxp2, identify different subpopulations of projection neurons in the mouse cerebral cortex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

An aetiological Foxp2 mutation causes aberrant striatal activity and alters plasticity during skill learning

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

What can mice tell us about Foxp2 function?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

FOXP1mutations cause intellectual disability and a recognizable phenotype

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV495

21 January 2018

Identifiers

10.1093/HMG/DDV495

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647308%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

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