(Q34024006)

30 July 2017

title

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

1 reference

30 July 2017

0 references

10

1 reference

30 July 2017

14

Thomas Illig

0 references

Bettina Lorenz-Depiereux

5

object named as

Bettina Lorenz-Depiereux

0 references

Eva Klopocki

object named as

Eva Klopocki

21

0 references

Olaf Riess

12

object named as

Olaf Riess

1 reference

30 July 2017

1

Denise Horn

1 reference

30 July 2017

16

Andre Franke

1 reference

30 July 2017

4

Ute Moog

1 reference

30 July 2017

Johannes Kapeller

2

1 reference

30 July 2017

Núria Rivera-Brugués

3

1 reference

30 July 2017

Bettina Lorenz-Depiereux

5

1 reference

30 July 2017

Sebastian Eck

6

1 reference

30 July 2017

Maja Hempel

7

1 reference

30 July 2017

Janine Wagenstaller

8

1 reference

30 July 2017

Alex Gawthrope

9

1 reference

30 July 2017

Michael Bonin

11

1 reference

30 July 2017

Eva Wohlleber

13

1 reference

30 July 2017

Connie R Bezzina

15

1 reference

30 July 2017

Stephanie Spranger

17

1 reference

30 July 2017

Pablo Villavicencio-Lorini

18

1 reference

30 July 2017

Wenke Seifert

19

1 reference

30 July 2017

Jochen Rosenfeld

20

1 reference

30 July 2017

Gudrun A Rappold

22

1 reference

30 July 2017

Tim M Strom

23

1 reference

30 July 2017

publication date

1 November 2010

1 reference

30 July 2017

1 reference

30 July 2017

volume

31

1 reference

30 July 2017

issue

11

1 reference

30 July 2017

page(s)

E1851-60

1 reference

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

The evolution of Fox genes and their role in development and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Genetics of intellectual disability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Structural variation of chromosomes in autism spectrum disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Psoriasis is associated with increased beta-defensin genomic copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Strong association of de novo copy number mutations with autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Foxp1 is an essential transcriptional regulator of B cell development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Structural variation in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Diagnostic genome profiling in mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Detection of large-scale variation in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Molecular and comparative genetics of mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Forkhead transcription factors: key players in development and metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

A genomewide scan identifies two novel loci involved in specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

An extended family with a dominantly inherited speech disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049153

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20848658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21362

1 reference

30 July 2017

1 reference

30 July 2017

1 reference