Prospective investigation of FOXP1 syndrome. (Q43806509)

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8 April 2020

title

Prospective investigation of FOXP1 syndrome (English)

1 reference

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8 April 2020

17

1 reference

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14

Heather C Mefford

1 reference

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8 April 2020

9

Evan E Eichler

1 reference

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8 April 2020

13

Arianne S Wallace

1 reference

8 April 2020

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7

Yitzchak Frank

1 reference

8 April 2020

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1

Paige M Siper

1 reference

8 April 2020

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4

Allison Durkin

1 reference

8 April 2020

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Maria Del Pilar Trelles

3

object named as

Maria Del Pilar Trelles

1 reference

8 April 2020

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2

Silvia De Rubeis

1 reference

8 April 2020

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Alexander Kolevzon

1 reference

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8 April 2020

author name string

Daniele Di Marino

5

1 reference

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8 April 2020

François Muratet

6

1 reference

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8 April 2020

Reymundo Lozano

8

1 reference

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8 April 2020

Morgan Kelly

10

1 reference

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8 April 2020

Jennifer Beighley

11

1 reference

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8 April 2020

Jennifer Gerdts

12

1 reference

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8 April 2020

Raphael A Bernier

15

1 reference

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8 April 2020

publication date

24 October 2017

1 reference

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8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090079 AND SRC:MED&resulttype=core&format=json

8 April 2020

volume

8

1 reference

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8 April 2020

page(s)

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090079 AND SRC:MED&resulttype=core&format=json

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

8 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

SUMOylation of FOXP1 regulates transcriptional repression via CtBP1 to drive dendritic morphogenesis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Prevalence and architecture of de novo mutations in developmental disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

denovo-db: a compendium of human de novo variants.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

The contribution of de novo coding mutations to autism spectrum disorder

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

3p interstitial deletion: novel case report and review

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Solution structure and backbone dynamics of the DNA‐binding domain of FOXP1: Insight into its domain swapping and DNA binding

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

The Repetitive Behavior Scale-Revised: Independent Validation in Individuals with Autism Spectrum Disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Structure of the forkhead domain of FOXP2 bound to DNA

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

UCSF Chimera--a visualization system for exploratory research and analysis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Varieties of repetitive behavior in autism: comparisons to mental retardation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

The sensory profile: the performance of a national sample of children without disabilities

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Clinical whole exome sequencing in child neurology practice.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Clinical phenotype of a patient with FOXP1 deletion

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Genetic abnormalities in FOXP1 are associated with congenital heart defects

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

FoxP2 regulates neurogenesis during embryonic cortical development.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5655854

FOXP1mutations cause intellectual disability and a recognizable phenotype

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/S13229-017-0172-6

Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29090079

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29090079

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29090079

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13229-017-0172-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090079 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 April 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13229-017-0172-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29090079 AND SRC:MED&resulttype=core&format=json

8 April 2020

PubMed publication ID

29090079

1 reference