Deletion of filamin A in two female patients with periventricular nodular heterotopia-Reference-Cited by-同舟云学术

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

Published:2012-04-20 Issue:6 Volume:158A Page:1512-1516
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chardon Jodi Warman,Mignot Cyril,Aradhya Swaroop,Keren Boris,Afenjar Alexandra,Kaminska Anna,Beldjord Cherif,Héron Delphine,Boycott Kym M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35409/fullpdf

Reference31 articles.

1. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain;Andrade;Hum Genet,2009

2. Multiple pathogenic and benign genomic rearrangements occur at a 35kb duplication involving the NEMO and LAGE2 genes;Aradhya;Hum Mol Genet,2001

3. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy;Bione;Nat Genet,1994

4. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion;Cardoso;Neurology,2009

5. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders;Clark;Hum Mol Genet,2009

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania;Experimental and Therapeutic Medicine;2021-12-01

2. Diseases associated with mutations in the filamin A gene (FLNA);Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2021-07-01

3. FLNA variants associated with disorders of platelet number or function;Platelets;2020-04-17

4. Recent Advances in the Genetic Etiology of Brain Malformations;Current Neurology and Neuroscience Reports;2013-06-21

5. Complex roles of filamin-A mediated cytoskeleton network in cancer progression;Cell & Bioscience;2013-02

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