(Q34496873)

2 August 2017

title

Combined cardiological and neurological abnormalities due to filamin A gene mutation (English)

1 reference

2 August 2017

2

Irenaeus F. M. de Coo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

author name string

Marie Claire Y. de Wit

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

Maarten H. Lequin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

Dicky J. J. Halley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

Jolien W. Roos-Hesselink

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

Grazia M. S. Mancini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

21 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20730588

21 June 2024

publication date

22 August 2010

1 reference

full work available at URL

2 August 2017

https://link.springer.com/content/pdf/10.1007/s00392-010-0206-y.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20730588/pdf/?tool=EBI

21 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20730588/?tool=EBI

21 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

https://europepmc.org/articles/PMC3022162

21 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

https://europepmc.org/articles/PMC3022162?pdf=render

21 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20730588

http://link.springer.com/content/pdf/10.1007/s00392-010-0206-y

21 June 2024

1 reference

10.1007/S00392-010-0206-Y

DOI

https://api.crossref.org/works/10.1007/S00392-010-0206-Y

Clinical Research in Cardiology

21 June 2024

published in

1 reference

2 August 2017

volume

100

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

45-50

1 reference

Filamins in cell signaling, transcription and organ development

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Molecular genetics of congenital atrial septal defects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Athlete's heart or hypertrophic cardiomyopathy?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022162

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Periventricular heterotopia associated with chromosome 5p anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Periventricular nodular heterotopia and Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00392-010-0206-Y

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

21 January 2018

1 reference

12 December 2020

Autosomal dominant inheritance of left ventricular outflow tract obstruction

1 reference

12 December 2020

Isolated 6q terminal deletions: an emerging new syndrome

1 reference

12 December 2020

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5:

1 reference

12 December 2020

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

1 reference

12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

12 December 2020

10.1007/S00392-010-0206-Y

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference