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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 14, 2024. (Total: 234362Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Ehlers-Danlos Syndrome and FBN1[original query]
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
Human mutation 2009 Oct 30 (10): 1406-11.
Morisaki Hiroko, Akutsu Koichi, Ogino Hitoshi, Kondo Norihiro, Yamanaka Itaru, Tsutsumi Yoshiaki, Yoshimuta Tsuyoshi, Okajima Toshiya, Matsuda Hitoshi, Minatoya Kenji, Sasaki Hiroaki, Tanaka Hiroshi, Ishibashi-Ueda Hatsue, Morisaki Takayu
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar .
Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy
Genetic basis of hereditary thoracic aortic aneurysms and dissections.
Journal of cardiology 2019 4 74 (2): 136-143.
Takeda Norifumi, Komuro Iss
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