Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
about
The genetics of reading disabilities: from phenotypes to candidate genesExon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Genomic variants and variations in malformations of cortical development.Proteomic analysis of zoledronic-acid resistant prostate cancer cells unveils novel pathways characterizing an invasive phenotype.Association of mutations in FLNA with craniosynostosis.47 patients with FLNA associated periventricular nodular heterotopiaUpregulation of neurovascular communication through filamin abrogation promotes ectopic periventricular neurogenesis.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.Lung Transplantation for FLNA-Associated Progressive Lung Disease.Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Ginkgolide K protects the heart against endoplasmic reticulum stress injury by activating the inositol-requiring enzyme 1α/X box-binding protein-1 pathwayA Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia.Smooth muscle filamin A is a major determinant of conduit artery structure and function at the adult stage.Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.Novel no-stop FLNA mutation causes multi-organ involvement in malesArterial tortuosity in patients withFilamin A- associated vascular aneurysmsFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Vascular and connective tissue ...... due to mutations in Filamin A.
@ast
Vascular and connective tissue ...... due to mutations in Filamin A.
@en
type
label
Vascular and connective tissue ...... due to mutations in Filamin A.
@ast
Vascular and connective tissue ...... due to mutations in Filamin A.
@en
prefLabel
Vascular and connective tissue ...... due to mutations in Filamin A.
@ast
Vascular and connective tissue ...... due to mutations in Filamin A.
@en
P2093
P2860
P356
P1476
Vascular and connective tissue ...... due to mutations in Filamin A.
@en
P2093
Anand Saggar
Anthony van der Steen
Brian Coppin
Carmen Morales
David L Rimoin
Elizabeth M Thompson
Eyal Reinstein
George McGillivray
Joaquín Arcas
John M Graham
P2860
P2888
P304
P356
10.1038/EJHG.2012.209
P577
2012-10-03T00:00:00Z