Deletion of filamin A in two female patients with periventricular nodular heterotopia

about

Complex roles of filamin-A mediated cytoskeleton network in cancer progression.Recent advances in the genetic etiology of brain malformations.

P2860

Q36614195-4B583627-F1AB-4C24-9EDF-B5BF74AB39EF Q38116442-E74FF196-140E-4474-9C98-8CC38B129C3F

P2860

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Item

http://www.wikidata.org/entity/Q57088345

description

im April 2012 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована у квітні 2012

@uk

name

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@en

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@nl

type

Item

label

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@en

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@nl

prefLabel

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@en

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@nl

P1476

Deletion of filamin A in two female patients with periventricular nodular heterotopia

@en

P2093

Alexandra Afenjar

http://www.w3.org/2001/XMLSchema#string

Boris Keren

http://www.w3.org/2001/XMLSchema#string

Cherif Beldjord

http://www.w3.org/2001/XMLSchema#string

Cyril Mignot

http://www.w3.org/2001/XMLSchema#string

Delphine Héron

http://www.w3.org/2001/XMLSchema#string

Swaroop Aradhya

http://www.w3.org/2001/XMLSchema#string

P2860

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

Emerin deletions occurring on both Xq28 inversion backgrounds

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

P304

1512-1516

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.35409

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

158A

http://www.w3.org/2001/XMLSchema#string

P50

Jodi Warman Chardon

Anna Kaminska

Kym M Boycott

P577

2012-04-20T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

22522697

http://www.w3.org/2001/XMLSchema#string

Deletion of filamin A in two female patients with periventricular nodular heterotopia

about

P2860

P2860

Deletion of filamin A in two female patients with periventricular nodular heterotopia

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698