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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 9, 2024. (Total: 231298Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Costello Syndrome and RAF1[original query]
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 in Noonan syndrome and their correlation with phenotypes.
The Journal of pediatrics 2011 Dec 159 (6): 1029-35.
Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Human genetics 2018 10 138 (1): 21-35.
Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Archivos argentinos de pediatria 2019 9 117 (5): 330-337.
Chinton Josefina, Huckstadt Victoria, Moresco Angélica, Gravina L Pablo, Obregon M Gabrie
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Journal of clinical medicine 2023 8 12 (15): .
Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie
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