Familial cardiac valvulopathy due to filamin A mutation.
about
Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation.Association of mutations in FLNA with craniosynostosis.47 patients with FLNA associated periventricular nodular heterotopiaComplex roles of filamin-A mediated cytoskeleton network in cancer progression.Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Upregulation of neurovascular communication through filamin abrogation promotes ectopic periventricular neurogenesis.Lung Transplantation for FLNA-Associated Progressive Lung Disease.Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.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.Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.Novel no-stop FLNA mutation causes multi-organ involvement in malesProteomic analysis of rat serum revealed the effects of chronic sleep deprivation on metabolic, cardiovascular and nervous systemFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
Familial cardiac valvulopathy due to filamin A mutation.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
Familial cardiac valvulopathy due to filamin A mutation.
@en
Familial cardiac valvulopathy due to filamin A mutation.
@nl
type
label
Familial cardiac valvulopathy due to filamin A mutation.
@en
Familial cardiac valvulopathy due to filamin A mutation.
@nl
prefLabel
Familial cardiac valvulopathy due to filamin A mutation.
@en
Familial cardiac valvulopathy due to filamin A mutation.
@nl
P2093
P2860
P356
P1476
Familial cardiac valvulopathy due to filamin A mutation.
@en
P2093
Daniel Bernstein
Jonathan A Bernstein
Louanne Hudgins
P2860
P304
P356
10.1002/AJMG.A.34132
P407
P577
2011-08-03T00:00:00Z