Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and SOS1[original query] |
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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Human mutation 2010 1 31 (3): 284-94. Kobayashi Tomoko, Aoki Yoko, Niihori Tetsuya, Cavé Hélène, Verloes Alain, Okamoto Nobuhiko, Kawame Hiroshi, Fujiwara Ikuma, Takada Fumio, Ohata Takako, Sakazume Satoru, Ando Tatsuya, Nakagawa Noriko, Lapunzina Pablo, Meneses Antonio G, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Kurosawa Kenji, Mizuno Seiji, Ohashi Hirofumi, David Albert, Philip Nicole, Guliyeva Afag, Narumi Yoko, Kure Shigeo, Tsuchiya Shigeru, Matsubara Yoic |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics 2015 Dec . Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, Okamoto Nobuhiko, Hayashi Shion, Watanabe Atsushi, Yokozawa Masato, Suzumura Hiroshi, Nakahara Akihiko, Nakano Yusuke, Hokosaki Tatsunori, Ohmori Ayumi, Sawada Hirofumi, Migita Ohsuke, Mima Aya, Lapunzina Pablo, Santos-Simarro Fernando, García-Miñaúr Sixto, Ogata Tsutomu, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Kure Shigeo, Aoki Yo |
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies. Pediatric cardiology 2016 Aug . Jhang Won Kyoung, Choi Jin-Ho, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wo |
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. Frontiers in genetics 2019 5 10 333. Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi |
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. BMC pediatrics 2022 12 22 (1): 734. Baldo Francesco, Fachin Alice, Da Re Beatrice, Rubinato Elisa, Bobbo Marco, Barbi Egid |
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- Page last updated:Apr 22, 2024
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